Materiały źródłowe

• #1 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  NF2-related schwannomatosis (neurofibromatosis type 2) is a genetic condition that affects your skin and nervous system. Common symptoms include hearing loss, early cataracts and skin lesions from tumor growth. Symptoms affect each person differently and treatment varies based on the size and location of tumors. […] Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include: Problems with balance (dizziness). Difficulty hearing. Ringing in your ears (tinnitus). […] Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course.

• #1 Neurofibromatosis Type 2 Clinic – Overview – Mayo Clinic

  https://www.mayoclinic.org/departments-centers/neurofibromatosis-type-2-clinic/overview/ovc-20481871

  Neurofibromatosis type 2 (NF2) is an uncommon genetic condition that results in the development of multiple brain tumors and spinal tumors. Almost all people with NF2 have two tumors affecting each of the hearing nerves, called vestibular schwannomas. Other benign tumors, such as meningiomas and ependymomas, may also develop and affect the brain and spine. […] People with NF2 most commonly experience hearing loss and imbalance. Additional symptoms, such as facial nerve paralysis, swallowing and speech difficulty, and arm and leg weakness, may develop as a result of tumor growth or side effects of treatment.

• #2 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Neurofibromatosis-Type-2-Symptoms.aspx

  Neurofibromatosis type 2 (NF2) is a rare genetic disorder that affects around 1 in 25,000 individuals. […] The condition is unpredictable and variable in its progression and therefore affects people in different ways. People usually start to develop the symptoms and signs of NF2 in late adolescence or their early 20s, although symptoms can develop at any age. The condition is characterized by the growth of benign tumors along nerves in the spine and brain, which leads to a range of neurological symptoms. […] The type and severity of symptoms depend on where in the body the benign tumors start to grow but the most common initial symptom is hearing loss or tinnitus (ringing in the ears). Less commonly, the initial symptom is a visual disturbance, seizure, skin tumor, limb weakness, or disrupted balance.

• #2 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties. Children can sometimes have symptoms. […] Children with NF2 often have problems with their eyes, such as a squint, or difficulty seeing caused by cloudy patches in the eyes (childhood cataracts).

• #2 Neurofibromatosis Type 2 | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/neurofibromatosis-type-2

  Neurofibromatosis type 2 (NF2) is a genetic disorder that causes slow-growing tumors to develop on the eighth cranial nerve, which is located in the inner ear. […] The classic symptom of NF2 is hearing loss that begins in the teens or early twenties. […] The symptoms of NF2 and their degree of severity will vary depending on the type of gene mutation a given child has. […] Most NF2 tumors grow on the eighth cranial nerve. Located in the inner ear, the eighth cranial nerve is responsible for sending information on both sound and balance to the brain. […] As a result, the first symptoms of NF2 are usually caused by the nerves impairment: hearing loss, ringing in the ears (called tinnitus), problems with balance, beginning in the teens or early twenties. […] Although its almost impossible to predict exactly how NF2 will progress, vestibular schwannomas grow slowly and usually cause balance and hearing to deteriorate over time.

• #3 Neurofibromatosis Type 2 – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/nf2

  Neurofibromatosis type 2 (NF2) is much less common than NF1, affecting about 1 in 25,000 people worldwide regardless of sex or ethnicity. The disorder is characterized by the development of benign tumors called vestibular schwannomas (also called acoustic neuromas) on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). These tumors, which affect both ears, often lead to partial or complete hearing loss. NF2 can also cause schwannomas to develop on other cranial or peripheral nerves as well as other tumors such as meningiomas (tumors of the membranes surround the brain and spinal cord) and ependymomas (tumors that develop from cells that line the ventricles of the brain and center of the spinal cord). The disorders can also cause the development of cataracts, potentially compromising vision. […] While most people develop symptoms in the late teens and early adult years, about 10 percent of people develop symptoms during late childhood. The most common symptoms of NF2 include ringing in the ears (tinnitus), gradual hearing loss, and balance problems.

• #3 Neurofibromatosis Type 2 (NF2) Disease Symptoms & Treatment

  https://health.ucsd.edu/care/ent/acoustic-neuroma/nf2/

  Almost all affected individuals develop acoustic neuroma tumors (vestibular schwannomas) on both sides of the brain. Early signs of acoustic neuromas can include hearing loss, tinnitus (ringing in the ear) and balance problems. […] The onset and course of NF2 varies from person to person. Most individuals with NF2 experience their first symptoms in their teenage years or early 20s. However, some individuals may not have problems until their 40s or 50s. […] Although bilateral vestibular schwannoma tumors are most common, people with NF2 can develop tumors on other nerves. The symptoms depend on their location.

• #3 Neurofibromatosis Type 2 Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/neurofibromatosis-type-2

  Acoustic neuromas, also called vestibular schwannomas, are the most common tumors associated with NF2. They are benign tumors that grow along the auditory nerve, which connects the inner ear to the brain and provides the ability to hear. Nearly all individuals with NF2 develop bilateral acoustic neuromas by age 30. […] Symptoms can vary depending on tumor type, location and size. Common symptoms include ataxia, tinnitus, vertigo and hearing loss. Additional symptoms may include changes in vision and presence of cataracts. […] Symptoms of NF2 typically become evident during adolescence or in the early 20s, but can arise at any age.

• #4 NF2-Related Schwannomatosis – Children’s Tumor Foundation

  https://www.ctf.org/nf2-swn/

  NF2-related schwannomatosis is much less common than NF1, affecting about 1 in 25,000 people worldwide. The condition is characterized by the development of benign tumors, called vestibular schwannomas (formerly called acoustic neuromas), on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). These tumors affect both ears, often leading to partial or complete hearing loss. […] People with NF2-SWN may also develop other types of benign brain or spinal tumors. The condition can also cause the development of cataracts or other eye findings, potentially compromising vision. Most people develop symptoms in the late teen and early adult years, although about 10% of people develop symptoms during late childhood. […] The most common first symptoms in NF2-related schwannomatosis, or NF2-SWN, are hearing and balance problems. These symptoms are due to benign tumors on the nerves leading to the ears. Individuals with NF2-SWN may experience some, but not all, of the following: Ringing in the ears (tinnitus), Hearing loss, Problems with balance, Facial weakness, Brain and cranial nerve damage, Swallowing difficulties, Seizures, Vision loss, Loss of balance and mobility due to tumors of the spine, foot drop, pain, muscle wasting, or other nerve damage. […] Because pain is often the main and presenting symptom, it may take several years before schwannomatosis is diagnosed and the source of the pain is identified. The degree of pain and tumors vary widely and some symptoms of schwannomatosis are shared with other conditions.

• #4 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  NF2-related schwannomatosis (neurofibromatosis type 2) is a genetic condition that affects your skin and nervous system. Common symptoms include hearing loss, early cataracts and skin lesions from tumor growth. Symptoms affect each person differently and treatment varies based on the size and location of tumors. […] Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include: Problems with balance (dizziness). Difficulty hearing. Ringing in your ears (tinnitus). […] Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course.

• #5 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  NF2-related schwannomatosis (neurofibromatosis type 2) is a genetic condition that affects your skin and nervous system. Common symptoms include hearing loss, early cataracts and skin lesions from tumor growth. Symptoms affect each person differently and treatment varies based on the size and location of tumors. […] Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include: Problems with balance (dizziness). Difficulty hearing. Ringing in your ears (tinnitus). […] Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course.

• #5 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties. Children can sometimes have symptoms. […] Children with NF2 often have problems with their eyes, such as a squint, or difficulty seeing caused by cloudy patches in the eyes (childhood cataracts).

• #6 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7563356/

  Overall, 70% of tumors received treatment over time. […] Presenting symptoms and pathologies in both age groups (18 and 18 y at time of diagnosis) are listed in Table 2 and Table 3. […] In the vast majority of symptomatic cases (n = 75, 75%), the presenting symptoms corresponded to the symptoms leading to diagnosis. […] Examinations resulting in the diagnosis of NF2 were initialized later upon newly developed symptoms, which were attributed to VS in most cases (n = 16, 64%) with hypacusis as major symptom (n = 12/16). […] Despite age at onset, VS itself seems to be a risk factor for clinical and treatment outcomes. […] As patients presenting with symptoms attributable to VS show worse hearing values at presentation and after surgery and a tendency towards larger tumor volumes and growth rates, the recognition of the non-VS relatedoften prevenient presenting symptomsis important and offers a chance. […] Early age at onset is an important prognostic factor for patients with NF2, since earlier onset exhibits a poor prognosis and severe clinical course. […] However, early age at onset and presenting symptoms due to VS represent significant risk factors for poor outcome of these tumors.

• #6 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] You can also get tumours on your spinal cord and on the protective layers that surround your brain (meninges). […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties.

• #7 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://www.mdpi.com/2072-6694/12/9/2355

  In general, early age at onset is an important prognostic factor for patients with NF2, since earlier onset exhibits a poor prognosis and severe clinical course. This is also due to the known genotype-phenotype correlations which are mainly based on the onset of disease. For instance patients with a Wishart Type characterized by an early onset and a high tumor burden exhibit a younger age at death. […] Despite age at onset, VS itself seems to be a risk factor for clinical and treatment outcomes. While adults commonly present with VS associated symptoms (87% in our data), children and young adolescence usually exhibit non-VS related symptoms. As patients presenting with symptoms attributable to VS show worse hearing values at presentation and after surgery and a tendency towards larger tumor volumes and growth rates, the recognition of the non-VS related—often prevenient presenting symptoms—is important and offers a chance. This is especially important in pediatric NF2 patients as they come into medical attention with ophthalmological, cutaneous or non-VS related neurological symptoms, which are often misinterpreted and, thereby, a potentially avoidable delay in diagnosis occurs.

• #7 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. […] The hallmark of NF2 is the development of bilateral VS. VS usually present with hearing loss, tinnitus or imbalance or a combination of the three symptoms. The majority of individuals with NF2 present with hearing loss, which is usually unilateral at time of onset. The hearing loss may be accompanied or preceded by tinnitus. VS may also cause features such as dizziness or imbalance as the first symptom. Nausea, vomiting or true vertigo are rare symptoms except in late stage disease.

• #8 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7563356/

  The presenting symptoms of the tumor suppressor gene syndrome neurofibromatosis type 2 (NF2) are often non-specific and unrelated to the disease hallmark bilateral vestibular schwannomas (VS). […] Presenting symptoms attributable to VS commonly occur in 87% of adults and 31% of children. […] Patients presenting with VS related symptoms had significantly (p 0.05) worse hearing values at presentation and after surgery. […] Due to the late appearance of these symptoms, the time of beginning hearing loss, surgery and deafness is significantly delayed (p 0.05) compared to patients not presenting with VS. […] In summary, age at onset and type of presenting symptom provide excellent prognostic parameters for predicting VS- and hearing-related clinical course. […] The interval from symptom onset until the time of diagnosis was approximately 2 years in young NF2 patients (18 years (y) at the time of diagnosis) and 4 y in the adult group (18 y).

• #8 Neurofibromatosis type 2: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2/

  Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. […] The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person’s early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. […] In most cases, these tumors occur in both ears (bilaterally) by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.

• #9 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://www.mdpi.com/2072-6694/12/9/2355

  The interval from symptom onset until the time of diagnosis was approximately 2 years in young NF2 patients (≤18 years (y) at the time of diagnosis) and 4 y in the adult group (>18 y). In both age groups, the average time from symptom onset to the beginning of hearing loss was ~9 y and to deafness further ~10 y. Overall, 70% of tumors received treatment over time. Among the 121 operated tumors, 26 tumors were operated twice and one tumor three times due to continued tumor growth, large volumes and further hearing deterioration. Presenting symptoms and pathologies in both age groups (≤18 and >18 y at time of diagnosis) are listed in Table 2 and Table 3. […] VS related symptoms were seen in most of the patients (55%), followed by ophthalmological symptoms/abnormalities (45%) and cutaneous features (38%). About 40% of all patients were monosymptomatic, 55% of patients showed ≥2 symptoms at symptom onset and ~5% were asymptomatic. Including polysymptomatic occurrence and symptomatic as well as asymptomatic findings, 62% of young patients exhibit ophthalmological abnormalities, followed by cutaneous findings (43%).

• #9 Neurofibromatosis Type 2 | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/neurofibromatosis-type-2

  Neurofibromatosis type 2 (NF2) is a genetic disorder that causes slow-growing tumors to develop on the eighth cranial nerve, which is located in the inner ear. […] The classic symptom of NF2 is hearing loss that begins in the teens or early twenties. […] The symptoms of NF2 and their degree of severity will vary depending on the type of gene mutation a given child has. […] Most NF2 tumors grow on the eighth cranial nerve. Located in the inner ear, the eighth cranial nerve is responsible for sending information on both sound and balance to the brain. […] As a result, the first symptoms of NF2 are usually caused by the nerves impairment: hearing loss, ringing in the ears (called tinnitus), problems with balance, beginning in the teens or early twenties. […] Although its almost impossible to predict exactly how NF2 will progress, vestibular schwannomas grow slowly and usually cause balance and hearing to deteriorate over time.

• #10 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://www.mdpi.com/2072-6694/12/9/2355

  The interval from symptom onset until the time of diagnosis was approximately 2 years in young NF2 patients (≤18 years (y) at the time of diagnosis) and 4 y in the adult group (>18 y). In both age groups, the average time from symptom onset to the beginning of hearing loss was ~9 y and to deafness further ~10 y. Overall, 70% of tumors received treatment over time. Among the 121 operated tumors, 26 tumors were operated twice and one tumor three times due to continued tumor growth, large volumes and further hearing deterioration. Presenting symptoms and pathologies in both age groups (≤18 and >18 y at time of diagnosis) are listed in Table 2 and Table 3. […] VS related symptoms were seen in most of the patients (55%), followed by ophthalmological symptoms/abnormalities (45%) and cutaneous features (38%). About 40% of all patients were monosymptomatic, 55% of patients showed ≥2 symptoms at symptom onset and ~5% were asymptomatic. Including polysymptomatic occurrence and symptomatic as well as asymptomatic findings, 62% of young patients exhibit ophthalmological abnormalities, followed by cutaneous findings (43%).

• #10 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. […] The hallmark of NF2 is the development of bilateral VS. VS usually present with hearing loss, tinnitus or imbalance or a combination of the three symptoms. The majority of individuals with NF2 present with hearing loss, which is usually unilateral at time of onset. The hearing loss may be accompanied or preceded by tinnitus. VS may also cause features such as dizziness or imbalance as the first symptom. Nausea, vomiting or true vertigo are rare symptoms except in late stage disease.

• #11 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  NF2-related schwannomatosis (neurofibromatosis type 2) is a genetic condition that affects your skin and nervous system. Common symptoms include hearing loss, early cataracts and skin lesions from tumor growth. Symptoms affect each person differently and treatment varies based on the size and location of tumors. […] Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include: Problems with balance (dizziness). Difficulty hearing. Ringing in your ears (tinnitus). […] Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course.

• #12 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. […] The hallmark of NF2 is the development of bilateral VS. VS usually present with hearing loss, tinnitus or imbalance or a combination of the three symptoms. The majority of individuals with NF2 present with hearing loss, which is usually unilateral at time of onset. The hearing loss may be accompanied or preceded by tinnitus. VS may also cause features such as dizziness or imbalance as the first symptom. Nausea, vomiting or true vertigo are rare symptoms except in late stage disease.

• #13

  https://111.wales.nhs.uk/encyclopaedia/n/article/neurofibromatosistype2/

  Neurofibromatosis type 2 (NF2) is a genetic condition that causes tumours to grow along your nerves. The tumours are usually non-cancerous (benign) but may cause a range of symptoms. […] Almost everyone with NF2 develops tumours along the nerves responsible for hearing and balance. These usually cause symptoms such as: hearing loss that gradually gets worse over time, hearing ringing or buzzing in the ears (tinnitus), balance problems particularly when moving in the dark or walking on uneven ground. […] You can also get other tumours inside the brain or spinal cord, or along the nerves to the arms and legs. This can lead to symptoms such as weakness in the arms and legs, and persistent headaches. […] The symptoms of neurofibromatosis type 2 (NF2) typically start during the late teens or early 20s, but they may develop at any age.

• #14 Neurofibromatosis type 2 (NF2) | nidirect

  https://www.nidirect.gov.uk/conditions/neurofibromatosis-type-2-nf2

  Almost everyone with NF2 develops tumours along the nerves responsible for hearing and balance. […] These usually cause symptoms such as: hearing loss that gradually gets worse over time, hearing ringing or buzzing in the ears (tinnitus), balance problems particularly when moving in the dark or walking on uneven ground. […] This can lead to symptoms such as weakness in the arms and legs, and persistent headaches. […] About two in three people with NF2 develop cloudy patches in the lens of the eye (cataracts), causing reduced eyesight. […] Most people with NF2 eventually develop significant hearing loss and often benefit from using a hearing aid or learning to lip read. […] NF2 tends to get worse over time, although the speed at which this happens varies considerably. […] Most people with NF2 eventually lose their hearing completely and some people require a wheelchair or other type of mobility device. […] Tumours developing inside the brain and spinal cord can place a strain on the body and shorten life expectancy.

• #15 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7563356/

  The presenting symptoms of the tumor suppressor gene syndrome neurofibromatosis type 2 (NF2) are often non-specific and unrelated to the disease hallmark bilateral vestibular schwannomas (VS). […] Presenting symptoms attributable to VS commonly occur in 87% of adults and 31% of children. […] Patients presenting with VS related symptoms had significantly (p 0.05) worse hearing values at presentation and after surgery. […] Due to the late appearance of these symptoms, the time of beginning hearing loss, surgery and deafness is significantly delayed (p 0.05) compared to patients not presenting with VS. […] In summary, age at onset and type of presenting symptom provide excellent prognostic parameters for predicting VS- and hearing-related clinical course. […] The interval from symptom onset until the time of diagnosis was approximately 2 years in young NF2 patients (18 years (y) at the time of diagnosis) and 4 y in the adult group (18 y).

• #16 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. […] The hallmark of NF2 is the development of bilateral VS. VS usually present with hearing loss, tinnitus or imbalance or a combination of the three symptoms. The majority of individuals with NF2 present with hearing loss, which is usually unilateral at time of onset. The hearing loss may be accompanied or preceded by tinnitus. VS may also cause features such as dizziness or imbalance as the first symptom. Nausea, vomiting or true vertigo are rare symptoms except in late stage disease.

• #17 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  The symptoms of neurofibromatosis type 2 (NF2) typically start during the late teens or early 20s, but they may develop at any age. […] Most of the problems are caused by non-cancerous (benign) tumours growing in various parts of the body. […] Most people with NF2 develop non-cancerous tumours along the nerves used by the brain to help with hearing and balance. The tumours are known as vestibular schwannomas and can cause problems such as: hearing loss that gradually gets worse over time, a constant ringing or buzzing sound (tinnitus), balance problems, such as feeling dizzy usually made worse by walking on uneven ground or moving around in the dark. […] The tumours tend to only cause problems in 1 ear at first, but both ears are often affected eventually. […] Less common symptoms include vertigo when it feels like you or everything around you is spinning and feeling and being sick.

• #18

  https://111.wales.nhs.uk/encyclopaedia/n/article/neurofibromatosistype2/

  Most of the problems are caused by non-cancerous (benign) tumours growing in various part of the body. […] Most people with NF2 develop non-cancerous tumours along the nerves used by the brain to help with hearing and balance. The tumours are known as vestibular schwannomas and can cause problems such as: hearing loss that gradually gets worse over time, a constant ringing or buzzing sound (tinnitus), balance problems, such as feeling dizzy usually made worse by walking on uneven ground or moving around in the dark. […] The tumours tend to only cause problems in 1 ear at first, but both ears are often affected eventually. […] It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common.

• #19 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #20 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #21 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #22 Neurofibromatosis Type 2 Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/neurofibromatosis-type-2

  Acoustic neuromas, also called vestibular schwannomas, are the most common tumors associated with NF2. They are benign tumors that grow along the auditory nerve, which connects the inner ear to the brain and provides the ability to hear. Nearly all individuals with NF2 develop bilateral acoustic neuromas by age 30. […] Symptoms can vary depending on tumor type, location and size. Common symptoms include ataxia, tinnitus, vertigo and hearing loss. Additional symptoms may include changes in vision and presence of cataracts. […] Symptoms of NF2 typically become evident during adolescence or in the early 20s, but can arise at any age.

• #23 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #24 Neurofibromatosis Type 2 Clinic – Overview – Mayo Clinic

  https://www.mayoclinic.org/departments-centers/neurofibromatosis-type-2-clinic/overview/ovc-20481871

  Neurofibromatosis type 2 (NF2) is an uncommon genetic condition that results in the development of multiple brain tumors and spinal tumors. Almost all people with NF2 have two tumors affecting each of the hearing nerves, called vestibular schwannomas. Other benign tumors, such as meningiomas and ependymomas, may also develop and affect the brain and spine. […] People with NF2 most commonly experience hearing loss and imbalance. Additional symptoms, such as facial nerve paralysis, swallowing and speech difficulty, and arm and leg weakness, may develop as a result of tumor growth or side effects of treatment.

• #25 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  A significant proportion of cases (20-30%) present with symptoms from an intracranial meningioma (headaches, seizures), spinal tumour (pain, muscle weakness, paraesthesia), or cutaneous tumour. Indeed, the first sign of more severe multi-tumour disease in early childhood is often a non-8th nerve tumour (including a cutaneous tumour), or an ocular presentation. Adult presentation is thus quite different to paediatric presentation, in which VS accounts for as little as 15-30% of initial symptoms. […] In adulthood, a more generalised symptomatic severe polyneuropathy occurs in about 35% of patients, often associated with an „onion bulb” appearance on nerve biopsy. This can progress, leading to severe muscle wasting and even death. However, around 40% of patients will show evidence of polyneuropathy on nerve conduction studies.

• #26 Neurofibromatosis Type 2 Clinic – Overview – Mayo Clinic

  https://www.mayoclinic.org/departments-centers/neurofibromatosis-type-2-clinic/overview/ovc-20481871

  Neurofibromatosis type 2 (NF2) is an uncommon genetic condition that results in the development of multiple brain tumors and spinal tumors. Almost all people with NF2 have two tumors affecting each of the hearing nerves, called vestibular schwannomas. Other benign tumors, such as meningiomas and ependymomas, may also develop and affect the brain and spine. […] People with NF2 most commonly experience hearing loss and imbalance. Additional symptoms, such as facial nerve paralysis, swallowing and speech difficulty, and arm and leg weakness, may develop as a result of tumor growth or side effects of treatment.

• #27 Neurofibromatosis: Types and Treatment | Doctor

  https://patient.info/doctor/neurofibromatosis-pro

  Neurofibromatosis type 2 makes up about 3% of all cases and has a prevalence of around 1 in 33,000 births. There is no gender or race predilection. Neurofibromatosis type 2 has variable presentations amongst different families. A more severe clinical presentation is associated with a frameshift or a nonsense mutation that results in a truncated protein. […] NF2 includes schwannomas of multiple cranial and spinal nerves, especially the vestibular nerve, as well as other tumours such as meningiomas and ependymomas. […] In NF2, sensorimotor polyneuropathy may be seen and there may be identifiable tumours along the relevant peripheral nerves. […] Intracranial meningiomas are diagnosed in 45-58% of individuals with NF2, and spinal meningiomas are diagnosed in approximately 20%. […] Brain tumours are rather more common in NF2. […] NF2 generally has a worse prognosis. Much of the morbidity from these tumours results from their treatment. Early detection and prompt attention to complications may reduce overall morbidity and mortality.

• #28 Symptoms & Features – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/nf2/symptoms-features

  Other types of tumors that can develop with NF2 include: Multiple meningiomas (tumors of the membrane surrounding the brain and spinal cord). These tumors can cause headache, seizures, or impaired neurological function due to pressure on the brain or spinal cord. Ependymomas (tumors that develop from cells that line the ventricles of the brain and center of the spinal cord). These tumors often are asymptomatic, though they may cause pain, numbness, or weakness in some cases.

• #29 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their brain. These are called meningiomas. […] Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as: headaches, being sick, seizures (fits), vision disturbances such as double vision. […] The tumours can also disrupt certain brain functions. Depending on where they are, they may cause: personality changes, weakness or numbness in 1 side of the body, difficulty speaking, understanding words, writing and reading (aphasia), vision problems, fits or blackouts, memory problems, a loss of smell (anosmia) or a sensation of strange smells (phantosmia), unsteadiness, loss of co-ordination and difficulty walking, difficulty speaking and swallowing.

• #30 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Complications of NF2 include: Hearing loss. Vision loss. Nerve damage. Fluid buildup in your brain. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. […] Visit a healthcare provider if you notice symptoms of NF2 like: Vision changes. Hearing changes. Muscle weakness or paralysis. Skin growths or changes to your skin. Headaches that don’t go away. Pain with an unknown cause. Seizures. […] Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.

• #31 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  A significant proportion of cases (20-30%) present with symptoms from an intracranial meningioma (headaches, seizures), spinal tumour (pain, muscle weakness, paraesthesia), or cutaneous tumour. Indeed, the first sign of more severe multi-tumour disease in early childhood is often a non-8th nerve tumour (including a cutaneous tumour), or an ocular presentation. Adult presentation is thus quite different to paediatric presentation, in which VS accounts for as little as 15-30% of initial symptoms. […] In adulthood, a more generalised symptomatic severe polyneuropathy occurs in about 35% of patients, often associated with an „onion bulb” appearance on nerve biopsy. This can progress, leading to severe muscle wasting and even death. However, around 40% of patients will show evidence of polyneuropathy on nerve conduction studies.

• #32 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] You can also get tumours on your spinal cord and on the protective layers that surround your brain (meninges). […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties.

• #33 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Complications of NF2 include: Hearing loss. Vision loss. Nerve damage. Fluid buildup in your brain. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. […] Visit a healthcare provider if you notice symptoms of NF2 like: Vision changes. Hearing changes. Muscle weakness or paralysis. Skin growths or changes to your skin. Headaches that don’t go away. Pain with an unknown cause. Seizures. […] Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.

• #34 Symptoms & Features – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/nf2/symptoms-features

  Other types of tumors that can develop with NF2 include: Multiple meningiomas (tumors of the membrane surrounding the brain and spinal cord). These tumors can cause headache, seizures, or impaired neurological function due to pressure on the brain or spinal cord. Ependymomas (tumors that develop from cells that line the ventricles of the brain and center of the spinal cord). These tumors often are asymptomatic, though they may cause pain, numbness, or weakness in some cases.

• #35 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their brain. These are called meningiomas. […] Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as: headaches, being sick, seizures (fits), vision disturbances such as double vision. […] The tumours can also disrupt certain brain functions. Depending on where they are, they may cause: personality changes, weakness or numbness in 1 side of the body, difficulty speaking, understanding words, writing and reading (aphasia), vision problems, fits or blackouts, memory problems, a loss of smell (anosmia) or a sensation of strange smells (phantosmia), unsteadiness, loss of co-ordination and difficulty walking, difficulty speaking and swallowing.

• #36 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their brain. These are called meningiomas. […] Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as: headaches, being sick, seizures (fits), vision disturbances such as double vision. […] The tumours can also disrupt certain brain functions. Depending on where they are, they may cause: personality changes, weakness or numbness in 1 side of the body, difficulty speaking, understanding words, writing and reading (aphasia), vision problems, fits or blackouts, memory problems, a loss of smell (anosmia) or a sensation of strange smells (phantosmia), unsteadiness, loss of co-ordination and difficulty walking, difficulty speaking and swallowing.

• #37 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their brain. These are called meningiomas. […] Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as: headaches, being sick, seizures (fits), vision disturbances such as double vision. […] The tumours can also disrupt certain brain functions. Depending on where they are, they may cause: personality changes, weakness or numbness in 1 side of the body, difficulty speaking, understanding words, writing and reading (aphasia), vision problems, fits or blackouts, memory problems, a loss of smell (anosmia) or a sensation of strange smells (phantosmia), unsteadiness, loss of co-ordination and difficulty walking, difficulty speaking and swallowing.

• #38 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] You can also get tumours on your spinal cord and on the protective layers that surround your brain (meninges). […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties.

• #39 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their brain. These are called meningiomas. […] Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as: headaches, being sick, seizures (fits), vision disturbances such as double vision. […] The tumours can also disrupt certain brain functions. Depending on where they are, they may cause: personality changes, weakness or numbness in 1 side of the body, difficulty speaking, understanding words, writing and reading (aphasia), vision problems, fits or blackouts, memory problems, a loss of smell (anosmia) or a sensation of strange smells (phantosmia), unsteadiness, loss of co-ordination and difficulty walking, difficulty speaking and swallowing.

• #40 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their brain. These are called meningiomas. […] Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as: headaches, being sick, seizures (fits), vision disturbances such as double vision. […] The tumours can also disrupt certain brain functions. Depending on where they are, they may cause: personality changes, weakness or numbness in 1 side of the body, difficulty speaking, understanding words, writing and reading (aphasia), vision problems, fits or blackouts, memory problems, a loss of smell (anosmia) or a sensation of strange smells (phantosmia), unsteadiness, loss of co-ordination and difficulty walking, difficulty speaking and swallowing.

• #41 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their brain. These are called meningiomas. […] Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as: headaches, being sick, seizures (fits), vision disturbances such as double vision. […] The tumours can also disrupt certain brain functions. Depending on where they are, they may cause: personality changes, weakness or numbness in 1 side of the body, difficulty speaking, understanding words, writing and reading (aphasia), vision problems, fits or blackouts, memory problems, a loss of smell (anosmia) or a sensation of strange smells (phantosmia), unsteadiness, loss of co-ordination and difficulty walking, difficulty speaking and swallowing.

• #42 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their brain. These are called meningiomas. […] Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as: headaches, being sick, seizures (fits), vision disturbances such as double vision. […] The tumours can also disrupt certain brain functions. Depending on where they are, they may cause: personality changes, weakness or numbness in 1 side of the body, difficulty speaking, understanding words, writing and reading (aphasia), vision problems, fits or blackouts, memory problems, a loss of smell (anosmia) or a sensation of strange smells (phantosmia), unsteadiness, loss of co-ordination and difficulty walking, difficulty speaking and swallowing.

• #43 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their spinal cord. These are called ependymomas. […] Of those who develop ependymomas, about half will not have any noticeable symptoms. But those who do may experience: back pain, muscle weakness, unpleasant physical sensations in certain parts of the body such as numbness, tingling, or a „crawling” sensation on the skin.

• #44 Symptoms & Features – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/nf2/symptoms-features

  Other types of tumors that can develop with NF2 include: Multiple meningiomas (tumors of the membrane surrounding the brain and spinal cord). These tumors can cause headache, seizures, or impaired neurological function due to pressure on the brain or spinal cord. Ependymomas (tumors that develop from cells that line the ventricles of the brain and center of the spinal cord). These tumors often are asymptomatic, though they may cause pain, numbness, or weakness in some cases.

• #45 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their spinal cord. These are called ependymomas. […] Of those who develop ependymomas, about half will not have any noticeable symptoms. But those who do may experience: back pain, muscle weakness, unpleasant physical sensations in certain parts of the body such as numbness, tingling, or a „crawling” sensation on the skin.

• #46 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Neurofibromatosis-Type-2-Symptoms.aspx

  The majority of patients with this condition develop benign tumors along the nerves that control hearing and balance. These growths are referred to as vestibular schwannomas (or acoustic neuromas) and can cause hearing loss, tinnitus, and balance problems. […] Around 60% of NF2 sufferers develop cataracts, cloudy areas in the eye lens that can blur vision. […] This refers to damaged peripheral nerves and depending on which nerves are involved, symptoms may include pins and needles, numbness, burning sensations, and muscle weakness. […] In around half of the cases, patients develop brain tumors called meningiomas, which can cause vomiting, headaches, convulsions, and visual disturbances. […] About 50% of sufferers develop tumors in the spinal cord referred to as gliomas, which can cause back pain, a skin crawling sensation, and muscle weakness.

• #47 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their spinal cord. These are called ependymomas. […] Of those who develop ependymomas, about half will not have any noticeable symptoms. But those who do may experience: back pain, muscle weakness, unpleasant physical sensations in certain parts of the body such as numbness, tingling, or a „crawling” sensation on the skin.

• #48 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Complications of NF2 include: Hearing loss. Vision loss. Nerve damage. Fluid buildup in your brain. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. […] Visit a healthcare provider if you notice symptoms of NF2 like: Vision changes. Hearing changes. Muscle weakness or paralysis. Skin growths or changes to your skin. Headaches that don’t go away. Pain with an unknown cause. Seizures. […] Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.

• #49 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their spinal cord. These are called ependymomas. […] Of those who develop ependymomas, about half will not have any noticeable symptoms. But those who do may experience: back pain, muscle weakness, unpleasant physical sensations in certain parts of the body such as numbness, tingling, or a „crawling” sensation on the skin.

• #50 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  Around 1 in 2 people with NF2 develop 1 or more benign tumours inside their spinal cord. These are called ependymomas. […] Of those who develop ependymomas, about half will not have any noticeable symptoms. But those who do may experience: back pain, muscle weakness, unpleasant physical sensations in certain parts of the body such as numbness, tingling, or a „crawling” sensation on the skin.

• #51 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties. Children can sometimes have symptoms. […] Children with NF2 often have problems with their eyes, such as a squint, or difficulty seeing caused by cloudy patches in the eyes (childhood cataracts).

• #52

  https://link.springer.com/article/10.1007/s00381-020-04729-w

  The hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. […] The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). […] In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended. […] While older adolescents and adults usually present with symptoms attributable to VS (e.g., hearing loss, tinnitus, balance disorder, facial palsy), children and young adolescents commonly present with a variety of symptoms unrelated to VS including ophthalmological and cutaneous findings.

• #53 Neurofibromatosis type 2: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2/

  Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. […] The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person’s early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. […] In most cases, these tumors occur in both ears (bilaterally) by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.

• #54 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1178283-overview

  Dumbbell-shaped spinal cord schwannomas are quite common in NF2 and result in significant morbidity; they present a great therapeutic challenge. […] Posterior subcapsular, or juvenile, cataracts can predate CNS symptomatology. These cataracts may progress over time, leading to decreased visual acuity. […] Sensory motor polyneuropathy is seen in some individuals with NF2 who may or may not have identifiable tumors along the length of the peripheral nerve(s) of interest. Early peripheral nerve abnormalities, such as dorsal root ganglia hypertrophy, may be seen in young children early in the course of NF2, but there are likely additional factors that contribute to the development of neuropathy later in the clinical course.

• #55 Neurofibromatosis Type 2 | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688570/0.5/Neurofibromatosis_Type_2

  NF2 is an autosomal dominant inherited tumor predisposition syndrome that predisposes affected individuals to tumors of the CNS, most commonly bilateral vestibular schwannomas, leading to hearing loss and possible deafness. NF2 also predisposes patients to intracranial and spinal meningiomas. […] Bilateral vestibular schwannomas may be associated with tinnitus and partial hearing loss or deafness. […] Bilateral vestibular schwannomas may be associated with balance dysfunction, headache, or seizures. […] Peripheral neuropathy in up to 66% of adults; generalized polyneuropathy in 3-10%. […] May have mononeuropathy in childhood, presenting as facial palsy, squint (CN III paralysis), foot drop, or hand drop. […] Reduced visual acuity. […] Cataracts (60-85%) may be the first sign of NF2 (but are rarely symptomatic), epiretinal membranes (12-40%), retinal hamartomas (6-22%). […] 70% of patients have skin tumors, but only 10% have 10 tumors.

• #56 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties. Children can sometimes have symptoms. […] Children with NF2 often have problems with their eyes, such as a squint, or difficulty seeing caused by cloudy patches in the eyes (childhood cataracts).

• #57 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Children with NF2 often have problems with their eyes, such as a squint, or difficulty seeing caused by cloudy patches in the eyes (childhood cataracts). […] Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. […] Tumours in the inner ear can eventually result in you losing your hearing. […] You’ll need ongoing care and support from a range of specialists, such as physiotherapists and hearing specialists. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you.

• #58 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  Symptoms of neurofibromatosis vary by type. Some types wont cause symptoms, while others may cause severe symptoms. The most common symptoms out of all three types include: […] NF2-related schwannomatosis causes slow-growing nerve tumors, hearing changes, vision changes (cataracts) and numbness or weakness (peripheral neuropathy). […] Other signs and symptoms may include: Hearing or vision loss. Spine curvature (scoliosis). Muscle weakness. Numbness or tingling. Pain and headaches. Behavioral changes like attention-deficit/hyperactivity disorder. Learning difficulties. Seizures. […] Symptoms of neurofibromatosis can be present at birth, while others develop as you age into an adult. For example, neurofibromas may show up on your babys skin when theyre born. In many cases, these usually appear during the teenage years. Its common for caf au lait spots to develop on your childs skin during their first few years. Groin and armpit freckles can appear between ages 3 and 5. Symptoms of schwannomatosis usually appear during adulthood, around age 30.

• #59 Neurofibromatosis Type 2 Diagnosis & Treatment – NYC | Columbia Neurosurgery in New York City

  https://www.neurosurgery.columbia.edu/patient-care/conditions/neurofibromatosis-type-2

  Acoustic neuromas, also called vestibular schwannomas, are the most common tumors associated with NF2. They are benign tumors that grow along the auditory nerve, which connects the inner ear to the brain and provides the ability to hear. Nearly all individuals with NF2 develop bilateral acoustic neuromas by age 30. […] Symptoms can vary depending on tumor type, location and size. Common symptoms include ataxia, tinnitus, vertigo and hearing loss. Additional symptoms may include changes in vision and presence of cataracts. […] Symptoms of NF2 typically become evident during adolescence or in the early 20s, but can arise at any age.

• #60 Neurofibromatosis Type 2 | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688570/0.5/Neurofibromatosis_Type_2

  NF2 is an autosomal dominant inherited tumor predisposition syndrome that predisposes affected individuals to tumors of the CNS, most commonly bilateral vestibular schwannomas, leading to hearing loss and possible deafness. NF2 also predisposes patients to intracranial and spinal meningiomas. […] Bilateral vestibular schwannomas may be associated with tinnitus and partial hearing loss or deafness. […] Bilateral vestibular schwannomas may be associated with balance dysfunction, headache, or seizures. […] Peripheral neuropathy in up to 66% of adults; generalized polyneuropathy in 3-10%. […] May have mononeuropathy in childhood, presenting as facial palsy, squint (CN III paralysis), foot drop, or hand drop. […] Reduced visual acuity. […] Cataracts (60-85%) may be the first sign of NF2 (but are rarely symptomatic), epiretinal membranes (12-40%), retinal hamartomas (6-22%). […] 70% of patients have skin tumors, but only 10% have 10 tumors.

• #61 Neurofibromatosis Type 2 | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688570/0.5/Neurofibromatosis_Type_2

  NF2 is an autosomal dominant inherited tumor predisposition syndrome that predisposes affected individuals to tumors of the CNS, most commonly bilateral vestibular schwannomas, leading to hearing loss and possible deafness. NF2 also predisposes patients to intracranial and spinal meningiomas. […] Bilateral vestibular schwannomas may be associated with tinnitus and partial hearing loss or deafness. […] Bilateral vestibular schwannomas may be associated with balance dysfunction, headache, or seizures. […] Peripheral neuropathy in up to 66% of adults; generalized polyneuropathy in 3-10%. […] May have mononeuropathy in childhood, presenting as facial palsy, squint (CN III paralysis), foot drop, or hand drop. […] Reduced visual acuity. […] Cataracts (60-85%) may be the first sign of NF2 (but are rarely symptomatic), epiretinal membranes (12-40%), retinal hamartomas (6-22%). […] 70% of patients have skin tumors, but only 10% have 10 tumors.

• #62 Symptoms & Features – Neurofibromatosis Program

  https://www.uab.edu/medicine/nfprogram/learn-about-nf/nf2/symptoms-features

  Most people with NF2 develop symptoms during their late teens or early 20s; however, 10 percent of people experience symptoms during late childhood. The most common symptoms of NF2 include: […] Additional symptoms of NF2 can include facial weakness, headache, changes in vision, weakness of part of the body, pain, and sensory loss. Cataracts or other types of eye problems can also develop in people with NF2. Juvenile cataract is sometimes the first recognizable symptom of NF2 in childhood. […] A primary clinical feature of NF2 is the development of schwannomas, tumors that grow along the nerve sheath. These tumors develop from Schwann cells, which support and protect nerve cells and serve as insulation needed to conduct information. Schwannomas that develop on cranial nerves (such as the eighth cranial nerve or the fifth cranial nerve) affect the head and neck. Tumors that develop on nerves that exit the spinal cord can cause weakness and numbness in the arms or legs. Peripheral schwannomas tumors that develop in tiny nerves in the skin usually dont cause neurological problems but may present a cosmetic concern.

• #63 Neurofibromatosis Type 2 | 5-Minute Clinical Consult

  https://www.unboundmedicine.com/5minute/view/5-Minute-Clinical-Consult/1688570/0.5/Neurofibromatosis_Type_2

  NF2 is an autosomal dominant inherited tumor predisposition syndrome that predisposes affected individuals to tumors of the CNS, most commonly bilateral vestibular schwannomas, leading to hearing loss and possible deafness. NF2 also predisposes patients to intracranial and spinal meningiomas. […] Bilateral vestibular schwannomas may be associated with tinnitus and partial hearing loss or deafness. […] Bilateral vestibular schwannomas may be associated with balance dysfunction, headache, or seizures. […] Peripheral neuropathy in up to 66% of adults; generalized polyneuropathy in 3-10%. […] May have mononeuropathy in childhood, presenting as facial palsy, squint (CN III paralysis), foot drop, or hand drop. […] Reduced visual acuity. […] Cataracts (60-85%) may be the first sign of NF2 (but are rarely symptomatic), epiretinal membranes (12-40%), retinal hamartomas (6-22%). […] 70% of patients have skin tumors, but only 10% have 10 tumors.

• #64 Neurofibromatosis Type 2 – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/neurofibromatosis-type-2/

  Neurofibromatosis type 2 (NF2) is a condition that often starts showing symptoms when a person is around 20 years old. The most common symptom is the development of a type of brain tumor called vestibular schwannoma. These tumors often develop on both sides of the brain in people with NF2. Symptoms of these tumors could include ringing in the ears, loss of hearing, and balance problems. […] NF2 can also cause changes to the skin. The most common change is the development of raised, often darker, patches on the skin. Other changes can include tumors beneath the skin, which are usually schwannomas rather than neurofibromas. […] There are also cases of people with NF2 developing meningiomas, which are tumors that grow on the tissue that covers the brain and spinal cord. These tumors can cause headaches, seizures, and neurological symptoms depending on where they are located. People with NF2 tend to develop meningiomas earlier in life compared to people with sporadic meningiomas. In fact, around 20% of children with meningiomas have NF2.

• #65 Understanding Neurofibromatosis: Causes, Symptoms, and Treatment Options – Massive Bio

  https://massivebio.com/understanding-neurofibromatosis-causes-symptoms-and-treatment-options/

  Hearing Loss: Due to the growth of tumors on the nerves responsible for hearing and balance. […] Balance Problems: Difficulties with coordination and balance may arise. […] Vision Changes: Tumors on the optic nerves can lead to vision impairment. […] Skin Tumors: While less common than in NF1, some individuals with NF2 may develop skin tumors.

• #66 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] You can also get tumours on your spinal cord and on the protective layers that surround your brain (meninges). […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties.

• #67 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #68 Neurofibromatosis Type 2 – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/neurofibromatosis-type-2/

  Neurofibromatosis type 2 (NF2) is a condition that often starts showing symptoms when a person is around 20 years old. The most common symptom is the development of a type of brain tumor called vestibular schwannoma. These tumors often develop on both sides of the brain in people with NF2. Symptoms of these tumors could include ringing in the ears, loss of hearing, and balance problems. […] NF2 can also cause changes to the skin. The most common change is the development of raised, often darker, patches on the skin. Other changes can include tumors beneath the skin, which are usually schwannomas rather than neurofibromas. […] There are also cases of people with NF2 developing meningiomas, which are tumors that grow on the tissue that covers the brain and spinal cord. These tumors can cause headaches, seizures, and neurological symptoms depending on where they are located. People with NF2 tend to develop meningiomas earlier in life compared to people with sporadic meningiomas. In fact, around 20% of children with meningiomas have NF2.

• #69 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] You can also get tumours on your spinal cord and on the protective layers that surround your brain (meninges). […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties.

• #70 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #71 Presenting symptoms in children with neurofibromatosis type 2 | springermedizin.de

  https://www.springermedizin.de/presenting-symptoms-in-children-with-neurofibromatosis-type-2/18084074

  The hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. […] The average age at symptom/sign onset was 8 6 (range 017) years and 11 5 (range 117) years at time of diagnosis. […] The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). […] In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended. […] While older adolescents and adults usually present with symptoms attributable to VS (e.g., hearing loss, tinnitus, balance disorder, facial palsy), children and young adolescents commonly present with a variety of symptoms unrelated to VS including ophthalmological and cutaneous findings.

• #72 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #73 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  A significant proportion of cases (20-30%) present with symptoms from an intracranial meningioma (headaches, seizures), spinal tumour (pain, muscle weakness, paraesthesia), or cutaneous tumour. Indeed, the first sign of more severe multi-tumour disease in early childhood is often a non-8th nerve tumour (including a cutaneous tumour), or an ocular presentation. Adult presentation is thus quite different to paediatric presentation, in which VS accounts for as little as 15-30% of initial symptoms. […] In adulthood, a more generalised symptomatic severe polyneuropathy occurs in about 35% of patients, often associated with an „onion bulb” appearance on nerve biopsy. This can progress, leading to severe muscle wasting and even death. However, around 40% of patients will show evidence of polyneuropathy on nerve conduction studies.

• #74 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] You can also get tumours on your spinal cord and on the protective layers that surround your brain (meninges). […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties.

• #75 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #76 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #77 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #78 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Most people with neurofibromatosis type 2 (NF2) get tumours in their inner ear. […] These tumours grow slowly and cause symptoms such as: hearing loss, ringing or buzzing in your ears (tinnitus), balance problems. […] You can also get tumours on your spinal cord and on the protective layers that surround your brain (meninges). […] These types of tumours do not always cause symptoms, but if you do have symptoms they can include: headaches, feeling sick (nausea) or being sick (vomiting), fits (seizures), hearing loss, blurred vision and vision loss, weakness or lack of movement in your face, weakness, numbness or tingling in your hands and feet (peripheral neuropathy), lumps or marks on your skin that are sometimes smooth and shiny. […] The symptoms of NF2 usually appear during the late teens or early twenties.

• #79 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #80 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #81 When your child has NF2-related schwannomatosis (NF2-SWN) | Saint Luke’s Health System

  https://www.saintlukeskc.org/health-library/when-your-child-has-nf2-related-schwannomatosis-nf2-swn

  Symptoms vary for each child. They can also be hard to recognize during childhood. So the diagnosis is often not made until the child is in their 20s or 30s. The symptoms may also be affected by the location of the tumors. Your child may have: […] Hearing loss […] Ringing in the ears (tinnitus) […] Problems with balance […] Eyesight problems […] Numbness or tingling in the arms or legs […] Skin sores or tumors.

• #82 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  A significant proportion of cases (20-30%) present with symptoms from an intracranial meningioma (headaches, seizures), spinal tumour (pain, muscle weakness, paraesthesia), or cutaneous tumour. Indeed, the first sign of more severe multi-tumour disease in early childhood is often a non-8th nerve tumour (including a cutaneous tumour), or an ocular presentation. Adult presentation is thus quite different to paediatric presentation, in which VS accounts for as little as 15-30% of initial symptoms. […] In adulthood, a more generalised symptomatic severe polyneuropathy occurs in about 35% of patients, often associated with an „onion bulb” appearance on nerve biopsy. This can progress, leading to severe muscle wasting and even death. However, around 40% of patients will show evidence of polyneuropathy on nerve conduction studies.

• #83 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  NF2-related schwannomatosis (neurofibromatosis type 2) is a genetic condition that affects your skin and nervous system. Common symptoms include hearing loss, early cataracts and skin lesions from tumor growth. Symptoms affect each person differently and treatment varies based on the size and location of tumors. […] Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include: Problems with balance (dizziness). Difficulty hearing. Ringing in your ears (tinnitus). […] Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course.

• #84

  https://link.springer.com/article/10.1007/s00381-020-04729-w

  The hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. […] The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). […] In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended. […] While older adolescents and adults usually present with symptoms attributable to VS (e.g., hearing loss, tinnitus, balance disorder, facial palsy), children and young adolescents commonly present with a variety of symptoms unrelated to VS including ophthalmological and cutaneous findings.

• #85 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7563356/

  The presenting symptoms of the tumor suppressor gene syndrome neurofibromatosis type 2 (NF2) are often non-specific and unrelated to the disease hallmark bilateral vestibular schwannomas (VS). […] Presenting symptoms attributable to VS commonly occur in 87% of adults and 31% of children. […] Patients presenting with VS related symptoms had significantly (p 0.05) worse hearing values at presentation and after surgery. […] Due to the late appearance of these symptoms, the time of beginning hearing loss, surgery and deafness is significantly delayed (p 0.05) compared to patients not presenting with VS. […] In summary, age at onset and type of presenting symptom provide excellent prognostic parameters for predicting VS- and hearing-related clinical course. […] The interval from symptom onset until the time of diagnosis was approximately 2 years in young NF2 patients (18 years (y) at the time of diagnosis) and 4 y in the adult group (18 y).

• #86 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://www.mdpi.com/2072-6694/12/9/2355

  In general, early age at onset is an important prognostic factor for patients with NF2, since earlier onset exhibits a poor prognosis and severe clinical course. This is also due to the known genotype-phenotype correlations which are mainly based on the onset of disease. For instance patients with a Wishart Type characterized by an early onset and a high tumor burden exhibit a younger age at death. […] Despite age at onset, VS itself seems to be a risk factor for clinical and treatment outcomes. While adults commonly present with VS associated symptoms (87% in our data), children and young adolescence usually exhibit non-VS related symptoms. As patients presenting with symptoms attributable to VS show worse hearing values at presentation and after surgery and a tendency towards larger tumor volumes and growth rates, the recognition of the non-VS related—often prevenient presenting symptoms—is important and offers a chance. This is especially important in pediatric NF2 patients as they come into medical attention with ophthalmological, cutaneous or non-VS related neurological symptoms, which are often misinterpreted and, thereby, a potentially avoidable delay in diagnosis occurs.

• #87 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7563356/

  The presenting symptoms of the tumor suppressor gene syndrome neurofibromatosis type 2 (NF2) are often non-specific and unrelated to the disease hallmark bilateral vestibular schwannomas (VS). […] Presenting symptoms attributable to VS commonly occur in 87% of adults and 31% of children. […] Patients presenting with VS related symptoms had significantly (p 0.05) worse hearing values at presentation and after surgery. […] Due to the late appearance of these symptoms, the time of beginning hearing loss, surgery and deafness is significantly delayed (p 0.05) compared to patients not presenting with VS. […] In summary, age at onset and type of presenting symptom provide excellent prognostic parameters for predicting VS- and hearing-related clinical course. […] The interval from symptom onset until the time of diagnosis was approximately 2 years in young NF2 patients (18 years (y) at the time of diagnosis) and 4 y in the adult group (18 y).

• #88 Neurofibromatosis Type 2 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470350/

  Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple tumors involving the central nervous system (CNS). Bilateral vestibular schwannomas are the hallmark feature of NF2 and are present in approximately 90 to 95 percent of patients. Meningiomas are seen in approximately 50 percent of patients with NF2. […] NF2 patients typically present with tumor-related symptoms around 20 years of age. The most common intracranial tumor associated with NF2 is vestibular schwannoma, which is typically bilateral in these patients. Patients typically present with tinnitus, sensorineural hearing loss, and balance problems. […] Patients with meningiomas develop symptoms based on location, including a headache, seizures, or focal neurological symptoms. NF2 patients tend to develop meningiomas earlier than those with sporadic meningiomas. Approximately 20% of children with meningiomas have NF2. Patients with intraspinal tumors present with pain, muscular weakness, and paresthesia. […] The outlook for these patients is guarded. If the tumors are detected late, the outcomes are poor, and the quality of life is reduced.

• #89 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. […] The hallmark of NF2 is the development of bilateral VS. VS usually present with hearing loss, tinnitus or imbalance or a combination of the three symptoms. The majority of individuals with NF2 present with hearing loss, which is usually unilateral at time of onset. The hearing loss may be accompanied or preceded by tinnitus. VS may also cause features such as dizziness or imbalance as the first symptom. Nausea, vomiting or true vertigo are rare symptoms except in late stage disease.

• #90 Neurofibromatosis Type 2 – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470350/

  Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple tumors involving the central nervous system (CNS). Bilateral vestibular schwannomas are the hallmark feature of NF2 and are present in approximately 90 to 95 percent of patients. Meningiomas are seen in approximately 50 percent of patients with NF2. […] NF2 patients typically present with tumor-related symptoms around 20 years of age. The most common intracranial tumor associated with NF2 is vestibular schwannoma, which is typically bilateral in these patients. Patients typically present with tinnitus, sensorineural hearing loss, and balance problems. […] Patients with meningiomas develop symptoms based on location, including a headache, seizures, or focal neurological symptoms. NF2 patients tend to develop meningiomas earlier than those with sporadic meningiomas. Approximately 20% of children with meningiomas have NF2. Patients with intraspinal tumors present with pain, muscular weakness, and paresthesia. […] The outlook for these patients is guarded. If the tumors are detected late, the outcomes are poor, and the quality of life is reduced.

• #91 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  NF2-related schwannomatosis (neurofibromatosis type 2) is a genetic condition that affects your skin and nervous system. Common symptoms include hearing loss, early cataracts and skin lesions from tumor growth. Symptoms affect each person differently and treatment varies based on the size and location of tumors. […] Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include: Problems with balance (dizziness). Difficulty hearing. Ringing in your ears (tinnitus). […] Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course.

• #92

  https://link.springer.com/article/10.1007/s00381-020-04729-w

  The hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. […] The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). […] In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended. […] While older adolescents and adults usually present with symptoms attributable to VS (e.g., hearing loss, tinnitus, balance disorder, facial palsy), children and young adolescents commonly present with a variety of symptoms unrelated to VS including ophthalmological and cutaneous findings.

• #93 Presenting symptoms in children with neurofibromatosis type 2 | springermedizin.de

  https://www.springermedizin.de/presenting-symptoms-in-children-with-neurofibromatosis-type-2/18084074

  The hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. […] The average age at symptom/sign onset was 8 6 (range 017) years and 11 5 (range 117) years at time of diagnosis. […] The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). […] In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended. […] While older adolescents and adults usually present with symptoms attributable to VS (e.g., hearing loss, tinnitus, balance disorder, facial palsy), children and young adolescents commonly present with a variety of symptoms unrelated to VS including ophthalmological and cutaneous findings.

• #94

  https://link.springer.com/article/10.1007/s00381-020-04729-w

  The majority of our patients exhibited ophthalmological (49%) complaints/abnormalities and skin features (40%), followed by non-VS-related (33%) and last VS-related (21%) neurological symptoms. […] NF2 suspicion should always be raised in children with non-VS-related neurological symptoms attributed to other NF2-associated tumors including intracranial or spinal meningiomas, non-VS schwannomas, or peripheral schwannomas. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging.

• #95 Presenting symptoms in children with neurofibromatosis type 2 | springermedizin.de

  https://www.springermedizin.de/presenting-symptoms-in-children-with-neurofibromatosis-type-2/18084074

  The majority of our patients exhibited ophthalmological (49%) complaints/abnormalities and skin features (40%), followed by non-VS-related (33%) and last VS-related (21%) neurological symptoms. […] This clinical spectrum largely differs from that of later adolescents and adult NF2 patients who commonly present with symptoms attributable to VS. […] The presenting symptoms in NF2 children appear unspecific or less specific for classical NF2 compared with adult NF2 patients, posing a challenge particularly for cases without family history. […] The clinical presentation in patients with neurofibromatosis type 2 is complex and variable, particularly in the pediatric age group. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging.

• #96

  https://link.springer.com/article/10.1007/s00381-020-04729-w

  The majority of our patients exhibited ophthalmological (49%) complaints/abnormalities and skin features (40%), followed by non-VS-related (33%) and last VS-related (21%) neurological symptoms. […] NF2 suspicion should always be raised in children with non-VS-related neurological symptoms attributed to other NF2-associated tumors including intracranial or spinal meningiomas, non-VS schwannomas, or peripheral schwannomas. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging.

• #97 Presenting symptoms in children with neurofibromatosis type 2 | springermedizin.de

  https://www.springermedizin.de/presenting-symptoms-in-children-with-neurofibromatosis-type-2/18084074

  The majority of our patients exhibited ophthalmological (49%) complaints/abnormalities and skin features (40%), followed by non-VS-related (33%) and last VS-related (21%) neurological symptoms. […] This clinical spectrum largely differs from that of later adolescents and adult NF2 patients who commonly present with symptoms attributable to VS. […] The presenting symptoms in NF2 children appear unspecific or less specific for classical NF2 compared with adult NF2 patients, posing a challenge particularly for cases without family history. […] The clinical presentation in patients with neurofibromatosis type 2 is complex and variable, particularly in the pediatric age group. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging.

• #98

  https://link.springer.com/article/10.1007/s00381-020-04729-w

  The majority of our patients exhibited ophthalmological (49%) complaints/abnormalities and skin features (40%), followed by non-VS-related (33%) and last VS-related (21%) neurological symptoms. […] NF2 suspicion should always be raised in children with non-VS-related neurological symptoms attributed to other NF2-associated tumors including intracranial or spinal meningiomas, non-VS schwannomas, or peripheral schwannomas. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging.

• #99

  https://link.springer.com/article/10.1007/s00381-020-04729-w

  The hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. […] The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). […] In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended. […] While older adolescents and adults usually present with symptoms attributable to VS (e.g., hearing loss, tinnitus, balance disorder, facial palsy), children and young adolescents commonly present with a variety of symptoms unrelated to VS including ophthalmological and cutaneous findings.

• #100 Presenting symptoms in children with neurofibromatosis type 2 | springermedizin.de

  https://www.springermedizin.de/presenting-symptoms-in-children-with-neurofibromatosis-type-2/18084074

  The hallmark of neurofibromatosis type 2 (NF2) is the presence of bilateral vestibular schwannomas (VS) which however have not yet developed or grown to large size in children and young adolescents. […] The average age at symptom/sign onset was 8 6 (range 017) years and 11 5 (range 117) years at time of diagnosis. […] The most frequent first presenting symptom/signs were ophthalmological abnormalities (49%), followed by cutaneous features (40%), non-VS-related neurological deficits (33%), and symptoms attributable to VS (21%). […] In children, ophthalmological and cutaneous features should raise clinical suspicion for NF2 and referral to an NF2 specialized center is recommended. […] While older adolescents and adults usually present with symptoms attributable to VS (e.g., hearing loss, tinnitus, balance disorder, facial palsy), children and young adolescents commonly present with a variety of symptoms unrelated to VS including ophthalmological and cutaneous findings.

• #101 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  NF2-related schwannomatosis (neurofibromatosis type 2) is a genetic condition that affects your skin and nervous system. Common symptoms include hearing loss, early cataracts and skin lesions from tumor growth. Symptoms affect each person differently and treatment varies based on the size and location of tumors. […] Symptoms of NF2 vary based on where you have tumors and their size. The first symptoms you might notice happen as a result of tumors on your auditory nerves and include: Problems with balance (dizziness). Difficulty hearing. Ringing in your ears (tinnitus). […] Most symptoms appear between late childhood and age 30. But the condition can affect anyone at any age. In adults, the tumors often affect the auditory nerves, causing hearing problems first. In children, tumors are often on their brain or spinal cord. If tumors show up during childhood or adolescence, that usually predicts a more severe disease course.

• #102 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #103 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #104 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Children with NF2 often have problems with their eyes, such as a squint, or difficulty seeing caused by cloudy patches in the eyes (childhood cataracts). […] Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. […] Tumours in the inner ear can eventually result in you losing your hearing. […] You’ll need ongoing care and support from a range of specialists, such as physiotherapists and hearing specialists. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you.

• #105 Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing | Scientific Reports

  https://www.nature.com/articles/s41598-022-13580-9

  Regardless of treatment, the clinical progression of neurofibromatosis type 2 (NF2), particularly in terms of hearing, swallowing, and gait, tend to worsen throughout the patients lives. […] Patients commonly experience hearing loss, swallowing difficulties, and gait abnormalities, with many interventions required to control the progression of numerous tumors, significantly interfering with their daily life. […] Despite the availability of systematic and multimodal treatments, the symptoms associated with NF2 tend to worsen throughout the patients lives. […] The periods of functional outcome preservation differed statistically significantly depending on the type of NF2 mutation. […] The line plotting the progression of functional disability throughout each patients life showed significant differences for each mutation type and age of symptom onset.

• #106 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Complications of NF2 include: Hearing loss. Vision loss. Nerve damage. Fluid buildup in your brain. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. […] Visit a healthcare provider if you notice symptoms of NF2 like: Vision changes. Hearing changes. Muscle weakness or paralysis. Skin growths or changes to your skin. Headaches that don’t go away. Pain with an unknown cause. Seizures. […] Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.

• #107 Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing | Scientific Reports

  https://www.nature.com/articles/s41598-022-13580-9

  The schwannoma growth rate was also found to differ significantly depending on the type of mutation and Age of symptom onset. […] According to Hallidays genetic severity score and our results, we classified our cohort into three classes (mild, moderate, or severe) based on the NF2 mutation types, NF2 mutation location, and age of symptom onset. […] There was also a significant difference among the gradients to the progression of the ADL score, the schwannoma growth rate, and total interventions/year. […] We analyzed the clinical and genetic predictors of the functional disability of NF2 patients. […] Two types of mutations were found to act as predictors, namely Truncating and Mosaic, in addition to Age of symptom onset. […] We performed targeted deep sequencing for multiple tissue DNA to detect a low variant allele frequency NF2 variant.

• #108 Age at Onset and Presenting Symptoms of Neurofibromatosis Type 2 as Prognostic Factors for Clinical Course of Vestibular Schwannomas

  https://www.mdpi.com/2072-6694/12/9/2355

  In general, early age at onset is an important prognostic factor for patients with NF2, since earlier onset exhibits a poor prognosis and severe clinical course. This is also due to the known genotype-phenotype correlations which are mainly based on the onset of disease. For instance patients with a Wishart Type characterized by an early onset and a high tumor burden exhibit a younger age at death. […] Despite age at onset, VS itself seems to be a risk factor for clinical and treatment outcomes. While adults commonly present with VS associated symptoms (87% in our data), children and young adolescence usually exhibit non-VS related symptoms. As patients presenting with symptoms attributable to VS show worse hearing values at presentation and after surgery and a tendency towards larger tumor volumes and growth rates, the recognition of the non-VS related—often prevenient presenting symptoms—is important and offers a chance. This is especially important in pediatric NF2 patients as they come into medical attention with ophthalmological, cutaneous or non-VS related neurological symptoms, which are often misinterpreted and, thereby, a potentially avoidable delay in diagnosis occurs.

• #109 Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing | Scientific Reports

  https://www.nature.com/articles/s41598-022-13580-9

  The schwannoma growth rate was also found to differ significantly depending on the type of mutation and Age of symptom onset. […] According to Hallidays genetic severity score and our results, we classified our cohort into three classes (mild, moderate, or severe) based on the NF2 mutation types, NF2 mutation location, and age of symptom onset. […] There was also a significant difference among the gradients to the progression of the ADL score, the schwannoma growth rate, and total interventions/year. […] We analyzed the clinical and genetic predictors of the functional disability of NF2 patients. […] Two types of mutations were found to act as predictors, namely Truncating and Mosaic, in addition to Age of symptom onset. […] We performed targeted deep sequencing for multiple tissue DNA to detect a low variant allele frequency NF2 variant.

• #110 Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing | Scientific Reports

  https://www.nature.com/articles/s41598-022-13580-9

  The schwannoma growth rate was also found to differ significantly depending on the type of mutation and Age of symptom onset. […] According to Hallidays genetic severity score and our results, we classified our cohort into three classes (mild, moderate, or severe) based on the NF2 mutation types, NF2 mutation location, and age of symptom onset. […] There was also a significant difference among the gradients to the progression of the ADL score, the schwannoma growth rate, and total interventions/year. […] We analyzed the clinical and genetic predictors of the functional disability of NF2 patients. […] Two types of mutations were found to act as predictors, namely Truncating and Mosaic, in addition to Age of symptom onset. […] We performed targeted deep sequencing for multiple tissue DNA to detect a low variant allele frequency NF2 variant.

• #111 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Patients often suffer from reduced visual acuity of various causes. Between 60-80% of patients have cataracts, which are usually presenile posterior subcapsular lenticular opacities that rarely require removal. […] The cornerstone of modern NF2 management is conservation of function, and the maintenance of „quality of life”. The mere presence of a tumour is not an indication for its removal. Serious thought must be given to the benefits that are sought and the risks and complications of the surgery, and the treatment must be tailored to the needs of the individual patient. […] Even with improvements in microsurgery and with use of radiation therapy, the great majority of individuals with NF2 become completely deaf. The tumours in NF2 are more difficult to treat than those of sporadic unilateral VS, as NF2 VS are often multifocal, appearing „like a bunch of grapes” around the vestibular nerve in particular. […] Prognosis is adversely affected by early age at onset, number of meningiomas and having a truncating mutation.

• #112 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Patients often suffer from reduced visual acuity of various causes. Between 60-80% of patients have cataracts, which are usually presenile posterior subcapsular lenticular opacities that rarely require removal. […] The cornerstone of modern NF2 management is conservation of function, and the maintenance of „quality of life”. The mere presence of a tumour is not an indication for its removal. Serious thought must be given to the benefits that are sought and the risks and complications of the surgery, and the treatment must be tailored to the needs of the individual patient. […] Even with improvements in microsurgery and with use of radiation therapy, the great majority of individuals with NF2 become completely deaf. The tumours in NF2 are more difficult to treat than those of sporadic unilateral VS, as NF2 VS are often multifocal, appearing „like a bunch of grapes” around the vestibular nerve in particular. […] Prognosis is adversely affected by early age at onset, number of meningiomas and having a truncating mutation.

• #113

  https://www.omim.org/entry/101000

  Evans et al. (1992) divided their 120 cases of NF2 into 2 types: the Wishart (1822) type, with early onset, rapid course, and multiple other tumors in addition to bilateral vestibular schwannomas, and the Gardner type (1930, 1933, 1940), with late onset, more benign course, and usually only bilateral vestibular schwannomas. […] The relative risk of mortality increased 1.13-fold per year decrease in age at diagnosis and was 2.51-fold greater in people with meningiomas compared with those without meningiomas. […] The relative risk of mortality in patients treated at specialty centers was 0.34, compared with those treated at nonspecialty centers.

• #114 Five recommendations for people with NF2 – Neurofibromatosis Midwest

  https://www.nfmidwest.org/blog/five-recommendations-people-nf2/

  First NF2 is usually a slowly progressive disease, auditory tumors are ALWAYS benign and only grow about 1 mm per year on average and the symptoms (hearing loss, tinnitus, dizziness) are not always related to the the size of the tumors. […] Second We only perform surgical intervention when the benefit is greater than the risks. That is, we do not operate a tumor just because it is there and we do not prescribe chemotherapy or radiation therapy on NF2 tumors. […] Third The fact that your first symptoms appeared only after the age of 30 indicates that you probably have the least severe form of the disease, a slower progression, and fewer complications. The later the first symptom, the less severe the NF2. […] Recently diagnosed with NF2. Im 52 and have severe tinnitus and hearing loss in right ear. […] My 10 year daughter has Nf2. Blind in her Right eye. Bilateral vestibular neuromas. Many tumors in her brain and spine.

• #115 Neurofibromatosis Type 2 | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/neurofibromatosis-type-2

  Neurofibromatosis type 2 (NF2) is a genetic disorder that causes slow-growing tumors to develop on the eighth cranial nerve, which is located in the inner ear. […] The classic symptom of NF2 is hearing loss that begins in the teens or early twenties. […] The symptoms of NF2 and their degree of severity will vary depending on the type of gene mutation a given child has. […] Most NF2 tumors grow on the eighth cranial nerve. Located in the inner ear, the eighth cranial nerve is responsible for sending information on both sound and balance to the brain. […] As a result, the first symptoms of NF2 are usually caused by the nerves impairment: hearing loss, ringing in the ears (called tinnitus), problems with balance, beginning in the teens or early twenties. […] Although its almost impossible to predict exactly how NF2 will progress, vestibular schwannomas grow slowly and usually cause balance and hearing to deteriorate over time.

• #116 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #117 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/symptoms/

  Children with NF2 often have problems with their eyes, such as a squint, or difficulty seeing caused by cloudy patches in the eyes (childhood cataracts). […] Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. […] Tumours in the inner ear can eventually result in you losing your hearing. […] You’ll need ongoing care and support from a range of specialists, such as physiotherapists and hearing specialists. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you.

• #118 Neurofibromatosis type 2 (NF2) | nidirect

  https://www.nidirect.gov.uk/conditions/neurofibromatosis-type-2-nf2

  Almost everyone with NF2 develops tumours along the nerves responsible for hearing and balance. […] These usually cause symptoms such as: hearing loss that gradually gets worse over time, hearing ringing or buzzing in the ears (tinnitus), balance problems particularly when moving in the dark or walking on uneven ground. […] This can lead to symptoms such as weakness in the arms and legs, and persistent headaches. […] About two in three people with NF2 develop cloudy patches in the lens of the eye (cataracts), causing reduced eyesight. […] Most people with NF2 eventually develop significant hearing loss and often benefit from using a hearing aid or learning to lip read. […] NF2 tends to get worse over time, although the speed at which this happens varies considerably. […] Most people with NF2 eventually lose their hearing completely and some people require a wheelchair or other type of mobility device. […] Tumours developing inside the brain and spinal cord can place a strain on the body and shorten life expectancy.

• #119 Neurofibromatosis 2 (NF2): Symptoms, Treatment, and More

  https://www.healthline.com/health/neurofibromatosis

  NF2 causes noncancerous tumors to grow on nerves in the brain and spinal cord. […] The symptoms of NF2 can occur at any age, but they typically appear during adolescence or early adulthood. They can vary in number and severity depending on the exact location of the tumors. […] Common symptoms of NF2 may include: ringing in the ears, problems with balance, glaucoma (an eye disease that damages the optic nerve), hearing loss, vision impairment, numbness or weakness in the arms and legs, seizures. […] People with NF2 often have a shorter life span than the general population. The disease can also lead to significant disabilities. Acoustic nerve tumors can be hard to treat and the majority of patients eventually become completely deaf. Tumors on the eighth cranial nerve can also lead to vision problems, poor balance, and muscle weakness. As a result, many patients become wheelchair-bound.

• #120 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Patients often suffer from reduced visual acuity of various causes. Between 60-80% of patients have cataracts, which are usually presenile posterior subcapsular lenticular opacities that rarely require removal. […] The cornerstone of modern NF2 management is conservation of function, and the maintenance of „quality of life”. The mere presence of a tumour is not an indication for its removal. Serious thought must be given to the benefits that are sought and the risks and complications of the surgery, and the treatment must be tailored to the needs of the individual patient. […] Even with improvements in microsurgery and with use of radiation therapy, the great majority of individuals with NF2 become completely deaf. The tumours in NF2 are more difficult to treat than those of sporadic unilateral VS, as NF2 VS are often multifocal, appearing „like a bunch of grapes” around the vestibular nerve in particular. […] Prognosis is adversely affected by early age at onset, number of meningiomas and having a truncating mutation.

• #121 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  Neurofibromatosis type 2 (NF2) is a hereditary condition characterized by benign, non-malignant tumors primarily affecting the nervous system, specifically the nerve sheath and meninges. […] The most frequent initial symptom is hearing loss, which can progress rapidly due to the tumors affecting auditory nerves. Over time, patients may experience a range of symptoms including severe headaches, seizures, and muscle weakness due to the involvement of other cranial nerves and spinal cord. […] Patients with NF2 are prone to several complications due to the tumors locations and growth. Facial nerve mononeuropathy is commonly observed due to the proximity of facial nerves to vestibular schwannomas. Sensorimotor axonal peripheral polyneuropathy affects up to 5% of patients, manifesting in muscle weakness and sensory deficits. Ocular complications include cataracts, optic meningiomas, and retinal hamartomas, which can significantly affect vision.

• #122 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  Functional deficits are common in NF2, with hearing loss and vestibular issues significantly affecting quality of life. […] Neurogenic bowel and bladder, often resulting from intracranial or spinal tumors, increase the risk of infections and constipation, affecting social integration. Spinal tumor removal can lead to spinal cord injuries, pain, and further bladder issues. Radiation can cause conditions like myelopathy and encephalopathy, while chemotherapy may lead to peripheral neuropathy, causing muscle weakness and balance problems. Lack of mobility can cause osteoporosis and increase fracture risk. Sensory deficits often necessitate the use of wheelchairs for mobility in early adulthood.

• #123 Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing | Scientific Reports

  https://www.nature.com/articles/s41598-022-13580-9

  Regardless of treatment, the clinical progression of neurofibromatosis type 2 (NF2), particularly in terms of hearing, swallowing, and gait, tend to worsen throughout the patients lives. […] Patients commonly experience hearing loss, swallowing difficulties, and gait abnormalities, with many interventions required to control the progression of numerous tumors, significantly interfering with their daily life. […] Despite the availability of systematic and multimodal treatments, the symptoms associated with NF2 tend to worsen throughout the patients lives. […] The periods of functional outcome preservation differed statistically significantly depending on the type of NF2 mutation. […] The line plotting the progression of functional disability throughout each patients life showed significant differences for each mutation type and age of symptom onset.

• #124 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #125

  https://111.wales.nhs.uk/encyclopaedia/n/article/neurofibromatosistype2/

  NF2 tends to get worse over time, although the speed at which this happens varies considerably. However, most people with NF2 eventually lose their hearing completely, and some people require a wheelchair or other type of mobility device. […] Tumours developing inside the brain and spinal cord can place a strain on the body and shorten life expectancy.

• #126 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  Functional deficits are common in NF2, with hearing loss and vestibular issues significantly affecting quality of life. […] Neurogenic bowel and bladder, often resulting from intracranial or spinal tumors, increase the risk of infections and constipation, affecting social integration. Spinal tumor removal can lead to spinal cord injuries, pain, and further bladder issues. Radiation can cause conditions like myelopathy and encephalopathy, while chemotherapy may lead to peripheral neuropathy, causing muscle weakness and balance problems. Lack of mobility can cause osteoporosis and increase fracture risk. Sensory deficits often necessitate the use of wheelchairs for mobility in early adulthood.

• #127 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Complications of NF2 include: Hearing loss. Vision loss. Nerve damage. Fluid buildup in your brain. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. […] Visit a healthcare provider if you notice symptoms of NF2 like: Vision changes. Hearing changes. Muscle weakness or paralysis. Skin growths or changes to your skin. Headaches that don’t go away. Pain with an unknown cause. Seizures. […] Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.

• #128 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #129

  https://111.wales.nhs.uk/encyclopaedia/n/article/neurofibromatosistype2/

  NF2 tends to get worse over time, although the speed at which this happens varies considerably. However, most people with NF2 eventually lose their hearing completely, and some people require a wheelchair or other type of mobility device. […] Tumours developing inside the brain and spinal cord can place a strain on the body and shorten life expectancy.

• #130 Neurofibromatosis type 2 (NF2) | nidirect

  https://www.nidirect.gov.uk/conditions/neurofibromatosis-type-2-nf2

  Almost everyone with NF2 develops tumours along the nerves responsible for hearing and balance. […] These usually cause symptoms such as: hearing loss that gradually gets worse over time, hearing ringing or buzzing in the ears (tinnitus), balance problems particularly when moving in the dark or walking on uneven ground. […] This can lead to symptoms such as weakness in the arms and legs, and persistent headaches. […] About two in three people with NF2 develop cloudy patches in the lens of the eye (cataracts), causing reduced eyesight. […] Most people with NF2 eventually develop significant hearing loss and often benefit from using a hearing aid or learning to lip read. […] NF2 tends to get worse over time, although the speed at which this happens varies considerably. […] Most people with NF2 eventually lose their hearing completely and some people require a wheelchair or other type of mobility device. […] Tumours developing inside the brain and spinal cord can place a strain on the body and shorten life expectancy.

• #131 Neurofibromatosis Type II | Hereditary Ocular Diseases

  https://disorders.eyes.arizona.edu/disorders/neurofibromatosis-type-ii

  Type II neurofibromatosis often presents in the third or fourth decade of life as hearing loss accompanied by tinnitus and dizziness. A significant proportion of children (30%) present with the same symptoms although they are more likely to complain of visual disturbances. […] Longevity overall is reduced. The average patient lives about 15 years after diagnosis and the average age of death is 36 years. […] This is a progressive disease requiring lifelong monitoring for disease progression.

• #132

  https://www.omim.org/entry/101000

  Evans et al. (1992) divided their 120 cases of NF2 into 2 types: the Wishart (1822) type, with early onset, rapid course, and multiple other tumors in addition to bilateral vestibular schwannomas, and the Gardner type (1930, 1933, 1940), with late onset, more benign course, and usually only bilateral vestibular schwannomas. […] The relative risk of mortality increased 1.13-fold per year decrease in age at diagnosis and was 2.51-fold greater in people with meningiomas compared with those without meningiomas. […] The relative risk of mortality in patients treated at specialty centers was 0.34, compared with those treated at nonspecialty centers.

• #133 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Complications of NF2 include: Hearing loss. Vision loss. Nerve damage. Fluid buildup in your brain. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. […] Visit a healthcare provider if you notice symptoms of NF2 like: Vision changes. Hearing changes. Muscle weakness or paralysis. Skin growths or changes to your skin. Headaches that don’t go away. Pain with an unknown cause. Seizures. […] Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.

• #134 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  Complications of neurofibromatosis may include: Hearing loss. Vision loss. Chronic pain. Learning and behavioral problems. Cardiovascular conditions (hypertension, congenital heart conditions). Problems with self-esteem due to skin symptoms. Higher risk of cancers compared to the general population, including breast cancer, and sarcoma (soft tissue cancer). […] While less common, some neurofibromatosis tumors can develop into cancer. […] A diagnosis can happen several years after you first have symptoms. Some people dont receive a diagnosis until theyre adults. Thats because neurofibromatosis symptoms appear in stages over time. […] Your healthcare provider might recommend the following treatment: Tumor removal: Surgery can remove tumors from your skin and other parts of your body. […] If neurofibromatosis affects your hearing or vision, your provider may recommend assistive devices like hearing aids or corrective lenses. […] Neurofibromatosis doesnt usually affect your life expectancy. The location of the tumors can make certain aspects of your daily routine difficult without assistance, like hearing and seeing, for example. Complications can lead to possible life-threatening outcomes, like cancer, if left untreated.

• #135 Neurofibromatosis 2 (NF2): Symptoms, Treatment, and More

  https://www.healthline.com/health/neurofibromatosis

  NF2 causes noncancerous tumors to grow on nerves in the brain and spinal cord. […] The symptoms of NF2 can occur at any age, but they typically appear during adolescence or early adulthood. They can vary in number and severity depending on the exact location of the tumors. […] Common symptoms of NF2 may include: ringing in the ears, problems with balance, glaucoma (an eye disease that damages the optic nerve), hearing loss, vision impairment, numbness or weakness in the arms and legs, seizures. […] People with NF2 often have a shorter life span than the general population. The disease can also lead to significant disabilities. Acoustic nerve tumors can be hard to treat and the majority of patients eventually become completely deaf. Tumors on the eighth cranial nerve can also lead to vision problems, poor balance, and muscle weakness. As a result, many patients become wheelchair-bound.

• #136 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Patients often suffer from reduced visual acuity of various causes. Between 60-80% of patients have cataracts, which are usually presenile posterior subcapsular lenticular opacities that rarely require removal. […] The cornerstone of modern NF2 management is conservation of function, and the maintenance of „quality of life”. The mere presence of a tumour is not an indication for its removal. Serious thought must be given to the benefits that are sought and the risks and complications of the surgery, and the treatment must be tailored to the needs of the individual patient. […] Even with improvements in microsurgery and with use of radiation therapy, the great majority of individuals with NF2 become completely deaf. The tumours in NF2 are more difficult to treat than those of sporadic unilateral VS, as NF2 VS are often multifocal, appearing „like a bunch of grapes” around the vestibular nerve in particular. […] Prognosis is adversely affected by early age at onset, number of meningiomas and having a truncating mutation.

• #137 Neurofibromatosis: Types, Symptoms, Causes, and Treatment

  https://www.webmd.com/pain-management/neurofibromatosis

  Two or more neurofibromas of any type, or one or more plexiform neurofibromas (a nerve that has become thick and misshapen due to the abnormal growth of cells and tissues that cover the nerve) […] Tumors that affect both of the auditory nerves and hearing loss beginning in the teens or early 20s are generally the first symptoms of NF2. The slow-growing tumors also can cause cataracts and numbness or weakness in your limbs. […] People with NF2 often have these symptoms: A type of tumor called acoustic neuroma, Loss of hearing, Weakness of the muscles of the face, Dizziness, Poor balance, Ringing in ears, Uncoordinated walking, Cataracts (cloudy areas on the lens of the eye) that develop at an unusually early age, Headaches. […] Possible NF2 complications include: Partial hearing loss or deafness, Nerve damage in the face, Benign skin tumors or schwannomas, Vision problems, Weakness or numbness in your extremities, Benign brain or spine tumors that need to be removed with surgery. […] The NF2 outlook depends on your age at the start of the disease and on the number and location of tumors. Some can be life-threatening.

• #138 Neurofibromatosis Type 2 (NF2) Signs & Symptoms | Rush

  https://www.rush.edu/conditions/neurofibromatosis-type-2-nf2

  NF2 symptoms can appear at any age, but they most often begin between the ages of 18 and 22. NF2 symptoms can include the following: […] Complications of NF2 can include the following: Deafness, Severe balance problems, Facial nerve paralysis, Spinal cord compression, Swallowing difficulties (dysphagia), Vision problems. […] The timing and type of surgery used for NF2 varies depending on your symptoms and how quickly they progress.

• #139 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1178283-overview

  Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios: […] Presenting symptoms include the following: Hearing loss, ringing in the ears, and balance problems associated with vestibular nerve lesions […] Symptoms of tinnitus, gradual hearing loss, and even vestibular dysfunction are frequently the initial signs of NF2. Although unilateral hearing loss is the most frequently presenting symptom, bilateral deafness would be expected to eventually occur in most affected individuals. […] Vestibular schwannomas are the most common and well-recognized feature of NF2 leading to significant morbidity. […] Untreated vestibular schwannomas can extend locally and may result in brainstem compression, hydrocephalus, and, occasionally, facial nerve palsy.

• #140 Neurofibromatosis Type 2: Practice Essentials, Background, Etiology

  https://emedicine.medscape.com/article/1178283-overview

  Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios: […] Presenting symptoms include the following: Hearing loss, ringing in the ears, and balance problems associated with vestibular nerve lesions […] Symptoms of tinnitus, gradual hearing loss, and even vestibular dysfunction are frequently the initial signs of NF2. Although unilateral hearing loss is the most frequently presenting symptom, bilateral deafness would be expected to eventually occur in most affected individuals. […] Vestibular schwannomas are the most common and well-recognized feature of NF2 leading to significant morbidity. […] Untreated vestibular schwannomas can extend locally and may result in brainstem compression, hydrocephalus, and, occasionally, facial nerve palsy.

• #141 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Complications of NF2 include: Hearing loss. Vision loss. Nerve damage. Fluid buildup in your brain. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. […] Visit a healthcare provider if you notice symptoms of NF2 like: Vision changes. Hearing changes. Muscle weakness or paralysis. Skin growths or changes to your skin. Headaches that don’t go away. Pain with an unknown cause. Seizures. […] Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.

• #142 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  Symptoms of neurofibromatosis vary by type. Some types wont cause symptoms, while others may cause severe symptoms. The most common symptoms out of all three types include: […] NF2-related schwannomatosis causes slow-growing nerve tumors, hearing changes, vision changes (cataracts) and numbness or weakness (peripheral neuropathy). […] Other signs and symptoms may include: Hearing or vision loss. Spine curvature (scoliosis). Muscle weakness. Numbness or tingling. Pain and headaches. Behavioral changes like attention-deficit/hyperactivity disorder. Learning difficulties. Seizures. […] Symptoms of neurofibromatosis can be present at birth, while others develop as you age into an adult. For example, neurofibromas may show up on your babys skin when theyre born. In many cases, these usually appear during the teenage years. Its common for caf au lait spots to develop on your childs skin during their first few years. Groin and armpit freckles can appear between ages 3 and 5. Symptoms of schwannomatosis usually appear during adulthood, around age 30.

• #143 Neurofibromatosis Type 2 (NF2) Signs & Symptoms | Rush

  https://www.rush.edu/conditions/neurofibromatosis-type-2-nf2

  NF2 symptoms can appear at any age, but they most often begin between the ages of 18 and 22. NF2 symptoms can include the following: […] Complications of NF2 can include the following: Deafness, Severe balance problems, Facial nerve paralysis, Spinal cord compression, Swallowing difficulties (dysphagia), Vision problems. […] The timing and type of surgery used for NF2 varies depending on your symptoms and how quickly they progress.

• #144 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  Complications of neurofibromatosis may include: Hearing loss. Vision loss. Chronic pain. Learning and behavioral problems. Cardiovascular conditions (hypertension, congenital heart conditions). Problems with self-esteem due to skin symptoms. Higher risk of cancers compared to the general population, including breast cancer, and sarcoma (soft tissue cancer). […] While less common, some neurofibromatosis tumors can develop into cancer. […] A diagnosis can happen several years after you first have symptoms. Some people dont receive a diagnosis until theyre adults. Thats because neurofibromatosis symptoms appear in stages over time. […] Your healthcare provider might recommend the following treatment: Tumor removal: Surgery can remove tumors from your skin and other parts of your body. […] If neurofibromatosis affects your hearing or vision, your provider may recommend assistive devices like hearing aids or corrective lenses. […] Neurofibromatosis doesnt usually affect your life expectancy. The location of the tumors can make certain aspects of your daily routine difficult without assistance, like hearing and seeing, for example. Complications can lead to possible life-threatening outcomes, like cancer, if left untreated.

• #145 Neurofibromatosis Type 2 (NF2) Signs & Symptoms | Rush

  https://www.rush.edu/conditions/neurofibromatosis-type-2-nf2

  NF2 symptoms can appear at any age, but they most often begin between the ages of 18 and 22. NF2 symptoms can include the following: […] Complications of NF2 can include the following: Deafness, Severe balance problems, Facial nerve paralysis, Spinal cord compression, Swallowing difficulties (dysphagia), Vision problems. […] The timing and type of surgery used for NF2 varies depending on your symptoms and how quickly they progress.

• #146 Neurofibromatosis type 2 – Symptoms | Health Information from Seaview Pharmacy

  https://seaviewpharmacy.co.uk/nhs_conditions_neurofibromatosis-type-2_symptoms

  It’s likely the tumours will grow larger over time, eventually causing additional symptoms such as: numbness in parts of your face, weakness of your tongue this can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia), facial pain although this is less common. […] About 2 in 3 people with NF2 develop cloudy patches in the lens of the eye (cataracts). […] Cataracts can make a person’s vision blurred or misty. However, they’re usually mild in NF2 and rarely cause serious vision problems. […] Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas. […] Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy can cause a wide range of symptoms, including: pins and needles in the affected body part, numbness and a reduced ability to feel pain or temperature changes particularly in your feet, a burning pain usually in the feet and legs, followed by the hands and arms as the neuropathy progresses, muscle weakness.

• #147 Neurofibromatosis Type 2 (NF2) Signs & Symptoms | Rush

  https://www.rush.edu/conditions/neurofibromatosis-type-2-nf2

  NF2 symptoms can appear at any age, but they most often begin between the ages of 18 and 22. NF2 symptoms can include the following: […] Complications of NF2 can include the following: Deafness, Severe balance problems, Facial nerve paralysis, Spinal cord compression, Swallowing difficulties (dysphagia), Vision problems. […] The timing and type of surgery used for NF2 varies depending on your symptoms and how quickly they progress.

• #148 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  Functional deficits are common in NF2, with hearing loss and vestibular issues significantly affecting quality of life. […] Neurogenic bowel and bladder, often resulting from intracranial or spinal tumors, increase the risk of infections and constipation, affecting social integration. Spinal tumor removal can lead to spinal cord injuries, pain, and further bladder issues. Radiation can cause conditions like myelopathy and encephalopathy, while chemotherapy may lead to peripheral neuropathy, causing muscle weakness and balance problems. Lack of mobility can cause osteoporosis and increase fracture risk. Sensory deficits often necessitate the use of wheelchairs for mobility in early adulthood.

• #149 NF2-Related Schwannomatosis (Neurofibromatosis Type 2)

  https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2

  Complications of NF2 include: Hearing loss. Vision loss. Nerve damage. Fluid buildup in your brain. […] NF2-related tumors can affect your life expectancy, depending on their size, location and age at initial diagnosis. Sometimes, the tumors don’t cause symptoms, while others may cause severe symptoms. Your outlook improves if you receive an early diagnosis and treatment before complications happen. […] Visit a healthcare provider if you notice symptoms of NF2 like: Vision changes. Hearing changes. Muscle weakness or paralysis. Skin growths or changes to your skin. Headaches that don’t go away. Pain with an unknown cause. Seizures. […] Changes to your vision and/or hearing are usually the first symptom(s) you’ll experience that will prompt you to see a healthcare provider.

• #150 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  Complications of neurofibromatosis may include: Hearing loss. Vision loss. Chronic pain. Learning and behavioral problems. Cardiovascular conditions (hypertension, congenital heart conditions). Problems with self-esteem due to skin symptoms. Higher risk of cancers compared to the general population, including breast cancer, and sarcoma (soft tissue cancer). […] While less common, some neurofibromatosis tumors can develop into cancer. […] A diagnosis can happen several years after you first have symptoms. Some people dont receive a diagnosis until theyre adults. Thats because neurofibromatosis symptoms appear in stages over time. […] Your healthcare provider might recommend the following treatment: Tumor removal: Surgery can remove tumors from your skin and other parts of your body. […] If neurofibromatosis affects your hearing or vision, your provider may recommend assistive devices like hearing aids or corrective lenses. […] Neurofibromatosis doesnt usually affect your life expectancy. The location of the tumors can make certain aspects of your daily routine difficult without assistance, like hearing and seeing, for example. Complications can lead to possible life-threatening outcomes, like cancer, if left untreated.

• #151 Neurofibromatosis 2 (NF2): Symptoms, Treatment, and More

  https://www.healthline.com/health/neurofibromatosis

  NF2 causes noncancerous tumors to grow on nerves in the brain and spinal cord. […] The symptoms of NF2 can occur at any age, but they typically appear during adolescence or early adulthood. They can vary in number and severity depending on the exact location of the tumors. […] Common symptoms of NF2 may include: ringing in the ears, problems with balance, glaucoma (an eye disease that damages the optic nerve), hearing loss, vision impairment, numbness or weakness in the arms and legs, seizures. […] People with NF2 often have a shorter life span than the general population. The disease can also lead to significant disabilities. Acoustic nerve tumors can be hard to treat and the majority of patients eventually become completely deaf. Tumors on the eighth cranial nerve can also lead to vision problems, poor balance, and muscle weakness. As a result, many patients become wheelchair-bound.

• #152 Neurofibromatosis Type 2: Causes, Diagnosis, Treatment

  https://www.verywellhealth.com/neurofibromatosis-type-2-nf2-2860838

  NF2 can cause the formation of tumors on the main nerve leading from the inner ear to the brain, causing ringing in the ears and a loss of balance. Tumors that form on the brain or spinal cord can cause headaches, seizures, and other problems. […] Neurofibromatosis type 2 causes tumors in different parts of the nervous system but mainly on the vestibulocochlear nerve that carries sensory information from the inner ear to the brain. These tumors, called vestibular schwannomas, typically affect nerves in both ears, causing: Hearing loss, Ringing in the ear (tinnitus), Dizziness, Unsteadiness, Involuntary eye movement (nystagmus). […] NF2 may also cause benign tumors on the brain and spinal cord, known as meningiomas and gliomas, that can lead to: Blurred vision, Double vision, Headaches, Loss of smell, Hearing loss, Memory problems, Weakness in the arms or legs, Seizures.

• #153 Neurofibromatosis type 2 (NF2)

  https://www.nhs.uk/conditions/neurofibromatosis-type-2/

  Lumps or marks on the skin and difficulty lifting or moving the feet (foot drop) are also common symptoms of NF2 in children. […] Neurofibromatosis type 2 (NF2) is a lifelong condition that usually gets worse over time. […] The size of tumours, where they grow and how quickly symptoms get worse can vary from person to person. But for many people, the condition has a significant impact on daily life. […] Tumours in the inner ear can eventually result in you losing your hearing. You may also have difficulty moving around and may need equipment to help, such as a wheelchair. […] NF2 can affect how long you live, but this depends on your symptoms and how they affect you. Your care team will be able to speak to you about life expectancy if you want to know more.

• #154 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  Functional deficits are common in NF2, with hearing loss and vestibular issues significantly affecting quality of life. […] Neurogenic bowel and bladder, often resulting from intracranial or spinal tumors, increase the risk of infections and constipation, affecting social integration. Spinal tumor removal can lead to spinal cord injuries, pain, and further bladder issues. Radiation can cause conditions like myelopathy and encephalopathy, while chemotherapy may lead to peripheral neuropathy, causing muscle weakness and balance problems. Lack of mobility can cause osteoporosis and increase fracture risk. Sensory deficits often necessitate the use of wheelchairs for mobility in early adulthood.

• #155 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  Functional deficits are common in NF2, with hearing loss and vestibular issues significantly affecting quality of life. […] Neurogenic bowel and bladder, often resulting from intracranial or spinal tumors, increase the risk of infections and constipation, affecting social integration. Spinal tumor removal can lead to spinal cord injuries, pain, and further bladder issues. Radiation can cause conditions like myelopathy and encephalopathy, while chemotherapy may lead to peripheral neuropathy, causing muscle weakness and balance problems. Lack of mobility can cause osteoporosis and increase fracture risk. Sensory deficits often necessitate the use of wheelchairs for mobility in early adulthood.

• #156 Neurofibromatosis: Type 2 | PM&R KnowledgeNow

  https://now.aapmr.org/neurofibromatosis-type-2/

  Functional deficits are common in NF2, with hearing loss and vestibular issues significantly affecting quality of life. […] Neurogenic bowel and bladder, often resulting from intracranial or spinal tumors, increase the risk of infections and constipation, affecting social integration. Spinal tumor removal can lead to spinal cord injuries, pain, and further bladder issues. Radiation can cause conditions like myelopathy and encephalopathy, while chemotherapy may lead to peripheral neuropathy, causing muscle weakness and balance problems. Lack of mobility can cause osteoporosis and increase fracture risk. Sensory deficits often necessitate the use of wheelchairs for mobility in early adulthood.

• #157 NF Type 2 | Texas NF Foundation

  https://www.texasnf.org/nf-type-2

  Patients with NF2 may have only a few caf au lait spots, light patches of skin and skin tumors. There will be tumors that affect hearing and balance called vestibular schwannoma, or acoustic neuroma. […] Hearing loss may be noticed in the teens. Changing in hearing may occur in one or both ears, or there may be other early symptoms that may include tinnitus (ringing noise in the ear) and poor balance. Pressure from the tumors may cause headaches, facial pain or facial numbness. […] NF2 SYMPTOMS: meningioma (and other brain tumors), cataracts (visual impairment/blindness), tinnitus (ringing in the ears), hearing loss (and/or deafness), bilateral vestibular schwannomas (acoustic neuromas), schwannomas of the peripheral nerves and skin tumors, spinal tumors, balance problems, dizziness, seizures, headaches and general muscle wasting can be associated with NF2.

• #158 Neurofibromatosis: What It Is, Symptoms, Types & Treatment

  https://my.clevelandclinic.org/health/diseases/neurofibromatosis

  Complications of neurofibromatosis may include: Hearing loss. Vision loss. Chronic pain. Learning and behavioral problems. Cardiovascular conditions (hypertension, congenital heart conditions). Problems with self-esteem due to skin symptoms. Higher risk of cancers compared to the general population, including breast cancer, and sarcoma (soft tissue cancer). […] While less common, some neurofibromatosis tumors can develop into cancer. […] A diagnosis can happen several years after you first have symptoms. Some people dont receive a diagnosis until theyre adults. Thats because neurofibromatosis symptoms appear in stages over time. […] Your healthcare provider might recommend the following treatment: Tumor removal: Surgery can remove tumors from your skin and other parts of your body. […] If neurofibromatosis affects your hearing or vision, your provider may recommend assistive devices like hearing aids or corrective lenses. […] Neurofibromatosis doesnt usually affect your life expectancy. The location of the tumors can make certain aspects of your daily routine difficult without assistance, like hearing and seeing, for example. Complications can lead to possible life-threatening outcomes, like cancer, if left untreated.

• #159 Neurofibromatosis type 2 | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/neurofibromatosis-type-2

  Individuals with neurofibromatosis type 2 typically develop tumors along nerves in the brain, spinal cord, and other parts of the body. Often, these tumors must be removed to prevent serious medical problems, but they are usually benign (non-cancerous). In some cases, these tumors undergo malignant changes and behave like cancers, but the overall rate of malignant transformation is low. […] While the tumors associated with NF2 are almost always benign, they should be followed closely or treated as their growth can cause other problems. For example, vestibular schwannomas may lead to hearing loss, and certain central nervous system tumors cause paralysis. Furthermore, it is important to monitor schwannomas for signs of growth, change or pain, which can rarely indicate malignant transformation.

• #160 Neurofibromatosis Type 2 (NF2) | American Cancer Society

  https://www.cancer.org/cancer/risk-prevention/genetics/family-cancer-syndromes/neurofibromatosis-type-2.html

  Cataracts cloud the lens in the eyes and cause vision problems. This can happen earlier than normal in patients with NF2. […] Neuropathies can occur when a tumor compresses a nerve, and causes weakness or numbness in the arms, legs and or face. This can cause facial paralysis, and speech or swallowing difficulty. […] Most tumors in NF2 are non-cancerous (benign), but because of where they grow, they can cause serious problems, such as pain, weakness, and numbness. Rarely, these tumors can become cancerous.

• #161 Neurofibromatosis type II – Wikipedia

  https://en.wikipedia.org/wiki/Neurofibromatosis_type_II

  Truncating mutations lead to smaller and non-functional protein products. Studies have shown that missense mutations and large deletions can both cause predominantly mild phenotypes. Phenotype is more variable in patients with splice-site mutations, and a milder disease in patients with mutations in exons 9-15. Patients with a missense mutation have a greater survival rate than nonsense and frameshift mutations.

• #162 Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing | Scientific Reports

  https://www.nature.com/articles/s41598-022-13580-9

  The schwannoma growth rate was also found to differ significantly depending on the type of mutation and Age of symptom onset. […] According to Hallidays genetic severity score and our results, we classified our cohort into three classes (mild, moderate, or severe) based on the NF2 mutation types, NF2 mutation location, and age of symptom onset. […] There was also a significant difference among the gradients to the progression of the ADL score, the schwannoma growth rate, and total interventions/year. […] We analyzed the clinical and genetic predictors of the functional disability of NF2 patients. […] Two types of mutations were found to act as predictors, namely Truncating and Mosaic, in addition to Age of symptom onset. […] We performed targeted deep sequencing for multiple tissue DNA to detect a low variant allele frequency NF2 variant.

• #163 Neurofibromatosis type II – Wikipedia

  https://en.wikipedia.org/wiki/Neurofibromatosis_type_II

  Truncating mutations lead to smaller and non-functional protein products. Studies have shown that missense mutations and large deletions can both cause predominantly mild phenotypes. Phenotype is more variable in patients with splice-site mutations, and a milder disease in patients with mutations in exons 9-15. Patients with a missense mutation have a greater survival rate than nonsense and frameshift mutations.

• #164 Neurofibromatosis: Types and Treatment | Doctor

  https://patient.info/doctor/neurofibromatosis-pro

  Neurofibromatosis type 2 makes up about 3% of all cases and has a prevalence of around 1 in 33,000 births. There is no gender or race predilection. Neurofibromatosis type 2 has variable presentations amongst different families. A more severe clinical presentation is associated with a frameshift or a nonsense mutation that results in a truncated protein. […] NF2 includes schwannomas of multiple cranial and spinal nerves, especially the vestibular nerve, as well as other tumours such as meningiomas and ependymomas. […] In NF2, sensorimotor polyneuropathy may be seen and there may be identifiable tumours along the relevant peripheral nerves. […] Intracranial meningiomas are diagnosed in 45-58% of individuals with NF2, and spinal meningiomas are diagnosed in approximately 20%. […] Brain tumours are rather more common in NF2. […] NF2 generally has a worse prognosis. Much of the morbidity from these tumours results from their treatment. Early detection and prompt attention to complications may reduce overall morbidity and mortality.

• #165 Neurofibromatosis type II – Wikipedia

  https://en.wikipedia.org/wiki/Neurofibromatosis_type_II

  Truncating mutations lead to smaller and non-functional protein products. Studies have shown that missense mutations and large deletions can both cause predominantly mild phenotypes. Phenotype is more variable in patients with splice-site mutations, and a milder disease in patients with mutations in exons 9-15. Patients with a missense mutation have a greater survival rate than nonsense and frameshift mutations.

• #166 Neurofibromatosis type II – Wikipedia

  https://en.wikipedia.org/wiki/Neurofibromatosis_type_II

  Truncating mutations lead to smaller and non-functional protein products. Studies have shown that missense mutations and large deletions can both cause predominantly mild phenotypes. Phenotype is more variable in patients with splice-site mutations, and a milder disease in patients with mutations in exons 9-15. Patients with a missense mutation have a greater survival rate than nonsense and frameshift mutations.

• #167 Neurofibromatosis type II – Wikipedia

  https://en.wikipedia.org/wiki/Neurofibromatosis_type_II

  Truncating mutations lead to smaller and non-functional protein products. Studies have shown that missense mutations and large deletions can both cause predominantly mild phenotypes. Phenotype is more variable in patients with splice-site mutations, and a milder disease in patients with mutations in exons 9-15. Patients with a missense mutation have a greater survival rate than nonsense and frameshift mutations.

• #168 Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing | Scientific Reports

  https://www.nature.com/articles/s41598-022-13580-9

  The schwannoma growth rate was also found to differ significantly depending on the type of mutation and Age of symptom onset. […] According to Hallidays genetic severity score and our results, we classified our cohort into three classes (mild, moderate, or severe) based on the NF2 mutation types, NF2 mutation location, and age of symptom onset. […] There was also a significant difference among the gradients to the progression of the ADL score, the schwannoma growth rate, and total interventions/year. […] We analyzed the clinical and genetic predictors of the functional disability of NF2 patients. […] Two types of mutations were found to act as predictors, namely Truncating and Mosaic, in addition to Age of symptom onset. […] We performed targeted deep sequencing for multiple tissue DNA to detect a low variant allele frequency NF2 variant.

• #169 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. […] The hallmark of NF2 is the development of bilateral VS. VS usually present with hearing loss, tinnitus or imbalance or a combination of the three symptoms. The majority of individuals with NF2 present with hearing loss, which is usually unilateral at time of onset. The hearing loss may be accompanied or preceded by tinnitus. VS may also cause features such as dizziness or imbalance as the first symptom. Nausea, vomiting or true vertigo are rare symptoms except in late stage disease.

• #170 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  A significant proportion of cases (20-30%) present with symptoms from an intracranial meningioma (headaches, seizures), spinal tumour (pain, muscle weakness, paraesthesia), or cutaneous tumour. Indeed, the first sign of more severe multi-tumour disease in early childhood is often a non-8th nerve tumour (including a cutaneous tumour), or an ocular presentation. Adult presentation is thus quite different to paediatric presentation, in which VS accounts for as little as 15-30% of initial symptoms. […] In adulthood, a more generalised symptomatic severe polyneuropathy occurs in about 35% of patients, often associated with an „onion bulb” appearance on nerve biopsy. This can progress, leading to severe muscle wasting and even death. However, around 40% of patients will show evidence of polyneuropathy on nerve conduction studies.

• #171 Neurofibromatosis type 2 (NF2): A clinical and molecular review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-16

  Patients often suffer from reduced visual acuity of various causes. Between 60-80% of patients have cataracts, which are usually presenile posterior subcapsular lenticular opacities that rarely require removal. […] The cornerstone of modern NF2 management is conservation of function, and the maintenance of „quality of life”. The mere presence of a tumour is not an indication for its removal. Serious thought must be given to the benefits that are sought and the risks and complications of the surgery, and the treatment must be tailored to the needs of the individual patient. […] Even with improvements in microsurgery and with use of radiation therapy, the great majority of individuals with NF2 become completely deaf. The tumours in NF2 are more difficult to treat than those of sporadic unilateral VS, as NF2 VS are often multifocal, appearing „like a bunch of grapes” around the vestibular nerve in particular. […] Prognosis is adversely affected by early age at onset, number of meningiomas and having a truncating mutation.

• #172 Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing | Scientific Reports

  https://www.nature.com/articles/s41598-022-13580-9

  Regardless of treatment, the clinical progression of neurofibromatosis type 2 (NF2), particularly in terms of hearing, swallowing, and gait, tend to worsen throughout the patients lives. […] Patients commonly experience hearing loss, swallowing difficulties, and gait abnormalities, with many interventions required to control the progression of numerous tumors, significantly interfering with their daily life. […] Despite the availability of systematic and multimodal treatments, the symptoms associated with NF2 tend to worsen throughout the patients lives. […] The periods of functional outcome preservation differed statistically significantly depending on the type of NF2 mutation. […] The line plotting the progression of functional disability throughout each patients life showed significant differences for each mutation type and age of symptom onset.

• #173

  https://link.springer.com/article/10.1007/s00381-020-04729-w

  The majority of our patients exhibited ophthalmological (49%) complaints/abnormalities and skin features (40%), followed by non-VS-related (33%) and last VS-related (21%) neurological symptoms. […] NF2 suspicion should always be raised in children with non-VS-related neurological symptoms attributed to other NF2-associated tumors including intracranial or spinal meningiomas, non-VS schwannomas, or peripheral schwannomas. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging.

• #174 Presenting symptoms in children with neurofibromatosis type 2 | springermedizin.de

  https://www.springermedizin.de/presenting-symptoms-in-children-with-neurofibromatosis-type-2/18084074

  The majority of our patients exhibited ophthalmological (49%) complaints/abnormalities and skin features (40%), followed by non-VS-related (33%) and last VS-related (21%) neurological symptoms. […] This clinical spectrum largely differs from that of later adolescents and adult NF2 patients who commonly present with symptoms attributable to VS. […] The presenting symptoms in NF2 children appear unspecific or less specific for classical NF2 compared with adult NF2 patients, posing a challenge particularly for cases without family history. […] The clinical presentation in patients with neurofibromatosis type 2 is complex and variable, particularly in the pediatric age group. […] Due to the rare occurrence of NF2 in the populations and the frequent unspecific early symptoms such as ophthalmological and cutaneous abnormalities, the diagnosis of NF2 in children remains challenging.

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