Materiały źródłowe

• #1 Hirschsprung Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562142/

  Hirschsprung disease (HD) is a congenital disorder characterized by the absence of ganglion cells (GC) at the Meissner’s plexus (submucosa) and Auerbach’s plexus (muscularis) of the terminal rectum that extends in a variable distance proximally. […] Its diagnosis relies upon the histopathological examination of rectal biopsies. […] The diagnosis of HD is based on a combination of clinical features, radiological findings, and histopathological evaluation of the biopsied sample. Indeed, the histopathologic examination of the rectal biopsy confirms the diagnosis of the disease by highlighting the association of the absence of GC in the submucosal and myenteric plexus with hypertrophy of nerve fibers in the aganglionic segment. […] To reduce the rate of inconclusive results related to inadequate biopsies, the International Gastroenterology Committee of 2009 defined the criteria for performing preoperative biopsies necessary to ensure a good interpretation.

• #2 Hirschsprung Disease Imaging: Practice Essentials, Radiography, Ultrasonography

  https://emedicine.medscape.com/article/409150-overview

  Hirschsprung disease (HD) is characterized by the absence of myenteric and submucosal ganglion cells (Auerbach and Meissner plexuses) along a variable length of the distal GI tract. Most cases of Hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. A diagnostic evaluation should begin with plain abdominal radiography, followed by a contrast enema examination of the colon to confirm the diagnosis of HD. The diagnostic contrast exam has been reported to have an 83.3% sensitivity and an 82.9% specificity for HD. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. A radiological/ultrasonographic study alone is not a sensitive enough tool to exclude HD. Manometry, rectal mucosal biopsy, or both are required for an accurate diagnosis. The predictive value of biopsy is essentially 100% in excluding HD if ganglion cells are present. HD is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, and delayed evacuation of contrast material, among other findings. The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. According to the results of one study, the use of the rectosigmoid index can in some cases help identify HD in patients when the diagnosis would have been missed by looking at the transition zone alone. In another study, of 192 children suspected of having HD, the sensitivity and specificity for diagnosing HD by the presence of a radiologic transition zone were 86.9% and 92.1%, respectively. Sensitivity and specificity of a contrast enema in the diagnosis of HD are reported as being 76% and 97%, respectively, but may be extremely difficult in total colonic aganglionosis. Many studies have documented that a maximum of 10% of neonates with HD do not have a transition zone on contrast enema.

• #3 Hirschsprung disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/hirschsprung-disease?lang=us

  Hirschsprung disease, a neurocristopathy, is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys. […] A definitive diagnosis requires a full-thickness rectal biopsy (2 cm above the dentate line as the region below the dentate line usually is aganglionic). […] A carefully performed contrast enema is indispensable in both the diagnosis of Hirschsprung disease and in assessing the length of bowel involvement. […] The affected segment is of small caliber with proximal dilatation. Fasciculation/saw-tooth irregularity of the aganglionic segment is frequently seen. Additionally, delayed evacuation of the administered contrast medium.

• #4 Diagnosis of Hirschsprung Disease – NIDDK

  https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease/diagnosis

  Doctors diagnose Hirschsprung disease by taking a medical and family history, doing a physical exam, and ordering tests. […] Although Hirschsprung disease develops before birth, doctors cannot diagnose the disease until after an infant is born. About half the people with Hirschsprung disease are diagnosed in their first year of life. About 80% of people with Hirschsprung disease are diagnosed by age 7, and more than 90% are diagnosed by age 13. […] If your child’s doctor suspects your child might have Hirschsprung disease, he or she may refer your child to a pediatric gastroenterologist or a pediatric surgeon. […] To diagnose Hirschsprung disease, a doctor will start by asking about your child’s medical and family history. The doctor will also ask about your child’s symptoms and when the symptoms began.

• #5 Hirschsprung Disease Imaging: Practice Essentials, Radiography, Ultrasonography

  https://emedicine.medscape.com/article/409150-overview

  Hirschsprung disease (HD) is characterized by the absence of myenteric and submucosal ganglion cells (Auerbach and Meissner plexuses) along a variable length of the distal GI tract. Most cases of Hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. A diagnostic evaluation should begin with plain abdominal radiography, followed by a contrast enema examination of the colon to confirm the diagnosis of HD. The diagnostic contrast exam has been reported to have an 83.3% sensitivity and an 82.9% specificity for HD. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. A radiological/ultrasonographic study alone is not a sensitive enough tool to exclude HD. Manometry, rectal mucosal biopsy, or both are required for an accurate diagnosis. The predictive value of biopsy is essentially 100% in excluding HD if ganglion cells are present. HD is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, and delayed evacuation of contrast material, among other findings. The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. According to the results of one study, the use of the rectosigmoid index can in some cases help identify HD in patients when the diagnosis would have been missed by looking at the transition zone alone. In another study, of 192 children suspected of having HD, the sensitivity and specificity for diagnosing HD by the presence of a radiologic transition zone were 86.9% and 92.1%, respectively. Sensitivity and specificity of a contrast enema in the diagnosis of HD are reported as being 76% and 97%, respectively, but may be extremely difficult in total colonic aganglionosis. Many studies have documented that a maximum of 10% of neonates with HD do not have a transition zone on contrast enema.

• #6 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Diagnosis-and-Treatment-of-Hirschsprungs-Disease.aspx

  Failure of a newborn to pass stool within the first 24 48 hours of birth is suggestive of a potential HD diagnosis. […] In order to determine if a patient has HD, a physical exam, medical history, and diagnostic tests are conducted. […] Rectal biopsies are the best tests to diagnose or rule out HD. […] X-rays are another set of tests that may be helpful in the diagnostic process. […] HD is suspected if the muscles do not relax as they normally should. […] A lower GI series x-ray exam can also be done, where contrast material is used to show if there are any changes or obstruction present in the bowel.

• #7 Hirschsprung’s disease – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-us/750?locale=fa

  Hirschsprung’s disease is most commonly diagnosed in the first year of life. […] Definitive diagnosis is with a rectal biopsy. […] Key diagnostic factors: vomiting, explosive passage of stool/gas, abdominal distension, delayed passage of meconium, faltering growth, chronic constipation. […] 1st investigations to order: plain abdominal x-ray, contrast enema. […] Investigations to consider: rectal biopsy, anorectal manometry.

• #8 Frequently Asked Questions about Hirschsprung’s Disease – About Kids GI

  https://aboutkidsgi.org/lower-gi/hirschsprungs-disease/frequently-asked-questions-about-hirschsprungs-disease/

  In the newborn period, diagnosis may be considered when an infant does not pass meconium (first stools of a newborn) within 24 hours of birth, repeatedly vomits material stained yellow or green with bile, or shows signs of abdominal distention (enterocolitis), or a history of constipation in an older infant or child. […] The diagnosis of Hirschsprungs disease will be confirmed by one or more tests, usually a barium enema and rectal biopsy. […] In cooperative adults or older children, manometry (a balloon study of internal anal sphincter pressure and relaxation) is helpful.

• #9 Diagnosis of Hirschsprung Disease – NIDDK

  https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease/diagnosis

  Doctors diagnose Hirschsprung disease by taking a medical and family history, doing a physical exam, and ordering tests. […] Although Hirschsprung disease develops before birth, doctors cannot diagnose the disease until after an infant is born. About half the people with Hirschsprung disease are diagnosed in their first year of life. About 80% of people with Hirschsprung disease are diagnosed by age 7, and more than 90% are diagnosed by age 13. […] If your child’s doctor suspects your child might have Hirschsprung disease, he or she may refer your child to a pediatric gastroenterologist or a pediatric surgeon. […] To diagnose Hirschsprung disease, a doctor will start by asking about your child’s medical and family history. The doctor will also ask about your child’s symptoms and when the symptoms began.

• #10 Adult Zonal Hirschsprung's Disease: A Diagnostic Challenge | ACS

  https://www.facs.org/for-medical-professionals/news-publications/journals/case-reviews/issues/v1n1/srinivas-adult/

  Hirschsprung disease should be considered as a differential diagnosis in young adults with chronic constipation. […] Thorough evaluation of such patients is necessary, as atypical variants of the disease can be missed on rectal biopsies. […] Barium contrast study, rectal biopsy, lower GI endoscopy, and anal manometry are helpful in diagnosing these atypical variants. […] The patient needs long-term follow-up for early diagnosis of recurrent obstruction or persistence of the disease. […] Thorough evaluation of young adults with chronic constipation is necessary, as atypical variants can be missed on rectal biopsies.

• #11 Hirschprung’s Disease (HSCR) Diagnosis & Treatment

  https://www.chp.edu/our-services/transplant/intestine/education/intestine-disease-states/hirschprungs-disease

  Hirschsprung’s disease is usually diagnosed during infancy, but can also be diagnosed later. […] Most cases of Hirschsprung’s disease are diagnosed in infancy, although some may not be diagnosed until adolescence or early adulthood. […] Your child’s doctor may use the following tests to rule out or diagnosis Hirschprung’s disease: […] Barium enema injection of fluid into the rectum that makes the colon show up on an X-ray so the doctor can see abnormal areas in the colon. […] Biopsy removal of a sample of the bowel tissue to check for ganglia (or the absence of ganglia). […] Anorectal manometry a small balloon is inserted in the rectum to measure the pressures of the internal and external sphincter.

• #12 Hirschsprung Disease Imaging: Practice Essentials, Radiography, Ultrasonography

  https://emedicine.medscape.com/article/409150-overview

  Hirschsprung disease (HD) is characterized by the absence of myenteric and submucosal ganglion cells (Auerbach and Meissner plexuses) along a variable length of the distal GI tract. Most cases of Hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. A diagnostic evaluation should begin with plain abdominal radiography, followed by a contrast enema examination of the colon to confirm the diagnosis of HD. The diagnostic contrast exam has been reported to have an 83.3% sensitivity and an 82.9% specificity for HD. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. A radiological/ultrasonographic study alone is not a sensitive enough tool to exclude HD. Manometry, rectal mucosal biopsy, or both are required for an accurate diagnosis. The predictive value of biopsy is essentially 100% in excluding HD if ganglion cells are present. HD is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, and delayed evacuation of contrast material, among other findings. The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. According to the results of one study, the use of the rectosigmoid index can in some cases help identify HD in patients when the diagnosis would have been missed by looking at the transition zone alone. In another study, of 192 children suspected of having HD, the sensitivity and specificity for diagnosing HD by the presence of a radiologic transition zone were 86.9% and 92.1%, respectively. Sensitivity and specificity of a contrast enema in the diagnosis of HD are reported as being 76% and 97%, respectively, but may be extremely difficult in total colonic aganglionosis. Many studies have documented that a maximum of 10% of neonates with HD do not have a transition zone on contrast enema.

• #13 Hirschsprung Disease (HD): Symptoms, Diagnosis and Treatment Options | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/hirschsprung-disease

  How Is Hirschsprung Disease Diagnosed? […] Doctors perform several tests to confirm a diagnosis, and different studies may be used depending on your child’s age. […] An abdominal X-ray is used to identify any intestinal dilation. […] A contrast enema is a special type of X-ray of the colon that shows the doctor which part of the colon is abnormal. […] Anorectal manometry uses a small balloon to record pressure changes within the rectum, and determines if the anal sphincter is functioning normally. […] A rectal biopsy is a test that takes a small bit of tissue from your child’s rectum (the lowest part of the large intestine) so doctors can look at it under a microscope. The biopsy lets the doctor examine nerve cells in the tissue sample and establishes the diagnosis of Hirschsprung disease. If this biopsy is inconclusive (sometimes the sample is too small), then a second biopsy will be done in an operating room.

• #14 Pediatric Hirschsprung’s Disease – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/hirschsprungs-disease

  Diagnostic tests for Hirschsprung’s disease include: Abdominal X-ray, Barium enema, Anorectal manometry, Biopsy of the rectum or large intestine. […] Diagnosing Hirschsprung’s disease can be difficult because its symptoms are similar to other conditions, such as irritable bowel syndrome and allergy to the protein in milk. However, delays in diagnosis and treatment can lead to complications like enterocolitis. […] Your child’s healthcare provider will do an exam and take a health history. They will ask questions about constipation and bowel movements. Other tests may be done to find out if your child has Hirschsprung’s disease. These tests may include: Abdominal X-ray. This test may show a lack of stool in the large intestine or near the anus. It can also show if part of the large intestine is bulging. The bulging is caused by blocked stool.

• #15 Hirschsprung’s Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/9844-hirschsprung-disease

  Your babys healthcare provider will check their belly to see if its swollen and painful. Then theyll check your babys rectum for backed-up poop. […] Your childs provider may also perform one or more of these tests: […] X-ray: Abdominal X-rays can show a blockage in your babys intestine. […] Contrast enema: A healthcare provider inserts a catheter (a thin tube) through your babys rectum. The catheter fills their intestine with contrast, a safe liquid. A technician takes X-rays as the contrast travels through your babys intestine. This exam shows if there are any blockages or narrowing in your childs intestines. […] Biopsy: Your babys healthcare provider uses a special device to remove a small amount of tissue (biopsy) from your babys rectum. A pathologist then looks at the tissue under a microscope to check for nerve cells. This procedure isnt painful and doesnt require anesthesia.

• #16 Diagnosis of Hirschsprung’s Disease and Allied Disorders | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-540-33935-9_11

  Major advances have taken place in the histochemical diagnosis of Hirschsprungs disease in recent years. […] While rectal manometry remains a reliable screening procedure, radiology still has an important role to play. […] The diagnosis of Hirschsprungs disease may be suggested on plain films, which may also demonstrate the serious complication of enterocolitis. […] Barium enema is usually diagnostic and should show both the transition zone and the length of the distal aganglionic segment of bowel.

• #17 Hirschsprung’s disease – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hirschsprungs-disease/diagnosis-treatment/drc-20351561

  Your child’s doctor will perform an exam and ask questions about your child’s bowel movements. He or she might recommend one or more of the following tests to diagnose or rule out Hirschsprung’s disease: […] Removing a sample of colon tissue for testing (biopsy). This is the surest way to identify Hirschsprung’s disease. A biopsy sample can be collected using a suction device, then examined under a microscope to determine whether nerve cells are missing. […] Abdominal X-ray using a contrast dye. Barium or another contrast dye is placed into the bowel through a special tube inserted in the rectum. The barium fills and coats the lining of the bowel, creating a clear silhouette of the colon and rectum. The X-ray will often show a clear contrast between the narrow section of bowel without nerves and the normal but often swollen section of bowel behind it.

• #18 Hirschsprung Disease Imaging: Practice Essentials, Radiography, Ultrasonography

  https://emedicine.medscape.com/article/409150-overview

  Hirschsprung disease (HD) is characterized by the absence of myenteric and submucosal ganglion cells (Auerbach and Meissner plexuses) along a variable length of the distal GI tract. Most cases of Hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. A diagnostic evaluation should begin with plain abdominal radiography, followed by a contrast enema examination of the colon to confirm the diagnosis of HD. The diagnostic contrast exam has been reported to have an 83.3% sensitivity and an 82.9% specificity for HD. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. A radiological/ultrasonographic study alone is not a sensitive enough tool to exclude HD. Manometry, rectal mucosal biopsy, or both are required for an accurate diagnosis. The predictive value of biopsy is essentially 100% in excluding HD if ganglion cells are present. HD is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, and delayed evacuation of contrast material, among other findings. The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. According to the results of one study, the use of the rectosigmoid index can in some cases help identify HD in patients when the diagnosis would have been missed by looking at the transition zone alone. In another study, of 192 children suspected of having HD, the sensitivity and specificity for diagnosing HD by the presence of a radiologic transition zone were 86.9% and 92.1%, respectively. Sensitivity and specificity of a contrast enema in the diagnosis of HD are reported as being 76% and 97%, respectively, but may be extremely difficult in total colonic aganglionosis. Many studies have documented that a maximum of 10% of neonates with HD do not have a transition zone on contrast enema.

• #19 Hirschsprung’s Disease: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/1015/p1319.html

  Hirschsprungs disease should be confirmed using rectal suction biopsy. A rectal suction biopsy can detect hypertrophic nerve trunks and the absence of ganglion cells in the colonic submucosa, confirming the diagnosis. The diagnosis can be confirmed with a rectal suction biopsy, which should show the absence of ganglion cells and the presence of hypertrophic nerve trunks. Imaging can help diagnose Hirschsprungs disease. A plain abdominal radiograph may show a dilated small bowel or proximal colon. Contrast enema radiographs of the colon commonly are normal for the first three months of life and indefinitely in patients with total colonic disease. A transition zone (the point where the normal bowel becomes aganglionic) may be visible on a contrast enema radiograph; however, the aganglionic colon will extend beyond this point in about 10 percent of patients. Anal manometry (balloon distention of the rectum) demonstrates the absence of internal anal sphincter relaxation upon rectal distention. Contrast enema and anal manometry are similar in sensitivity and specificity.

• #20 Hirschsprung Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562142/

  At least two biopsies should be required, with a minimum diameter of 3mm. […] The presence of the transition zone, a reversal of recto-sigmoid ratio, mucosal irregularity, irregular contraction, and persistent contrast retention (more than 24 hours) are features of HD on a contrast enema. […] Establishing the diagnosis of HD is generally based on pathological documentation compatible with the absence of ganglion cells. […] Anorectal manometry and contrast enema are other investigations for diagnosing Hirschsprung disease. Anorectal manometry is based on the principle that the recto-anal inhibitory reflex (RAIR) is uniformly present in all healthy newborns. The absence of RAIR on manometry is diagnostic for HD.

• #21 Hirschsprung disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/hirschsprung-disease?lang=us

  Hirschsprung disease, a neurocristopathy, is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys. […] A definitive diagnosis requires a full-thickness rectal biopsy (2 cm above the dentate line as the region below the dentate line usually is aganglionic). […] A carefully performed contrast enema is indispensable in both the diagnosis of Hirschsprung disease and in assessing the length of bowel involvement. […] The affected segment is of small caliber with proximal dilatation. Fasciculation/saw-tooth irregularity of the aganglionic segment is frequently seen. Additionally, delayed evacuation of the administered contrast medium.

• #22 Hirschsprung’s Disease | UAMS Department of Radiology

  https://medicine.uams.edu/radiology/kb/hirschsprungs-disease/

  Patients often present with failure/delay in passing meconium, with signs of obstruction including abdominal distension, constipation, and vomiting. […] Diagnosis often relies on fluoroscopy guided contrast enema where the transition point is often clearly seen. Classic diagnostic signs to look for are the saw-tooth appearance of the aganglionic segment (impaired peristaltic waves) and reversal of the recto-sigmoid ratio. […] If you see an obstructive bowel gas pattern in a neonate who has not yet passed meconium with signs pointing to low intestinal obstruction, performing a barium enema is prudent. It is often the first exam to be requested/performed if there is concern for Hirschsprungs disease.

• #23 Hirschsprung Disease Imaging: Practice Essentials, Radiography, Ultrasonography

  https://emedicine.medscape.com/article/409150-overview

  Hirschsprung disease (HD) is characterized by the absence of myenteric and submucosal ganglion cells (Auerbach and Meissner plexuses) along a variable length of the distal GI tract. Most cases of Hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. A diagnostic evaluation should begin with plain abdominal radiography, followed by a contrast enema examination of the colon to confirm the diagnosis of HD. The diagnostic contrast exam has been reported to have an 83.3% sensitivity and an 82.9% specificity for HD. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. A radiological/ultrasonographic study alone is not a sensitive enough tool to exclude HD. Manometry, rectal mucosal biopsy, or both are required for an accurate diagnosis. The predictive value of biopsy is essentially 100% in excluding HD if ganglion cells are present. HD is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, and delayed evacuation of contrast material, among other findings. The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. According to the results of one study, the use of the rectosigmoid index can in some cases help identify HD in patients when the diagnosis would have been missed by looking at the transition zone alone. In another study, of 192 children suspected of having HD, the sensitivity and specificity for diagnosing HD by the presence of a radiologic transition zone were 86.9% and 92.1%, respectively. Sensitivity and specificity of a contrast enema in the diagnosis of HD are reported as being 76% and 97%, respectively, but may be extremely difficult in total colonic aganglionosis. Many studies have documented that a maximum of 10% of neonates with HD do not have a transition zone on contrast enema.

• #24 Hirschsprung Disease Imaging: Practice Essentials, Radiography, Ultrasonography

  https://emedicine.medscape.com/article/409150-overview

  Hirschsprung disease (HD) is characterized by the absence of myenteric and submucosal ganglion cells (Auerbach and Meissner plexuses) along a variable length of the distal GI tract. Most cases of Hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. A diagnostic evaluation should begin with plain abdominal radiography, followed by a contrast enema examination of the colon to confirm the diagnosis of HD. The diagnostic contrast exam has been reported to have an 83.3% sensitivity and an 82.9% specificity for HD. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. A radiological/ultrasonographic study alone is not a sensitive enough tool to exclude HD. Manometry, rectal mucosal biopsy, or both are required for an accurate diagnosis. The predictive value of biopsy is essentially 100% in excluding HD if ganglion cells are present. HD is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, and delayed evacuation of contrast material, among other findings. The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. According to the results of one study, the use of the rectosigmoid index can in some cases help identify HD in patients when the diagnosis would have been missed by looking at the transition zone alone. In another study, of 192 children suspected of having HD, the sensitivity and specificity for diagnosing HD by the presence of a radiologic transition zone were 86.9% and 92.1%, respectively. Sensitivity and specificity of a contrast enema in the diagnosis of HD are reported as being 76% and 97%, respectively, but may be extremely difficult in total colonic aganglionosis. Many studies have documented that a maximum of 10% of neonates with HD do not have a transition zone on contrast enema.

• #25 Hirschsprung Disease Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/178493-workup

  The definitive diagnosis of Hirschsprung disease is confirmed by a full-thickness rectal biopsy demonstrating the absence of ganglion cells. […] The classic finding of Hirschsprung disease is a narrowed distal colon with proximal dilation; however, the findings are difficult to interpret in neonates (age 1 mo) and do not demonstrate this transition zone in approximately 25% of the time. […] Retention of rectal contrast for longer than 24 hours after the barium enema also suggests a diagnosis of Hirschsprung disease. […] Anorectal manometry detects the relaxation reflex of the internal sphincter after distention of the rectal lumen. This normal inhibitory reflex is presumed absent in patients with Hirschsprung disease. […] Studies have suggested that immunohistochemical (IHC) staining for calretinin might be more accurate than acetylcholinesterase staining in diagnosing congenital aganglionosis in suction biopsy specimens.

• #26 Hirschsprung Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562142/

  At least two biopsies should be required, with a minimum diameter of 3mm. […] The presence of the transition zone, a reversal of recto-sigmoid ratio, mucosal irregularity, irregular contraction, and persistent contrast retention (more than 24 hours) are features of HD on a contrast enema. […] Establishing the diagnosis of HD is generally based on pathological documentation compatible with the absence of ganglion cells. […] Anorectal manometry and contrast enema are other investigations for diagnosing Hirschsprung disease. Anorectal manometry is based on the principle that the recto-anal inhibitory reflex (RAIR) is uniformly present in all healthy newborns. The absence of RAIR on manometry is diagnostic for HD.

• #27 Hirschsprung’s Disease | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/h/hirschsprung

  A physical exam and testing will be done to diagnose Hirschsprungs disease. Testing includes: […] Rectal biopsy: This is the most important test. It is the only one that can make the diagnosis of Hirschsprungs disease. It involves taking a sample of the cells in the rectum for a pathologist to view under a microscope. The pathologist confirms that a child has Hirschsprungs disease based on the lack of ganglion cells and other abnormal nerve-related findings (such as nerve bundle hypertrophy, calretinin staining, acetylcholinesterase and choline transport). These special tests, in addition to identifying ganglion cells, help determine if a child has Hirschsprungs disease. […] Anal manometry: This test measures anal pressure. It checks the reflexes of the rectum and the anus. This test can be done at the bedside in the hospital room. If your child has a manometry test result that seems to suggest Hirschsprungs disease, a biopsy should be done to be sure of the diagnosis.

• #28 Hirschsprung’s Disease: Causes, Symptoms, Diagnosis, Treatment

  https://www.webmd.com/children/what-is-hirschsprungs-disease

  Hirschsprung’s Disease Diagnosis […] Tell your doctor if your child has symptoms of Hirschsprung’s disease. The doctor can diagnose it with tests such as: […] Contrast enema. Also called a barium enema, this test uses dye to coat and highlight the inside of the body’s organs. Your child is placed face down on a table while the dye is inserted via a tube from the anus into the intestines. The test doesn’t require anesthesia (a medication to numb or block pain). The dye allows the doctor to see problem areas on X-rays. Contrast enema is done as part of a „lower GI series,” a group of tests on the gastrointestinal tract. […] Abdominal X-ray. This can show whether something is blocking the intestines. […] Biopsy. Your doctor will take a small sample of tissue from your child’s rectum to check for signs of Hirschsprung’s. Depending on your child’s age and size, the doctor may use anesthesia. […] Anorectal manometry. This test inflates a small balloon inside the rectum to see how well the muscles are working. This test is done only on older children.

• #29 Anorectal Manometry and Hirschsprung Disease

  https://info.bhnco.com/blog/anorectal-manometry-and-hirschsprung-disease

  Disorders of the bowels require specific investigative techniques that are preferably non-invasive for accurate disease diagnosis. Here, the use of anorectal manometry for the diagnosis of Hirschsprungs disease will be discussed. […] There are numerous ways to diagnose Hirschsprungs disease, including abdominal x-rays using contrast dyes, performing a biopsy on the patients colon tissue, and anorectal manometry. […] Anorectal manometry is the least invasive diagnostic procedure and is also very simple. This test is designed to measure the patients contractility in his or her anus and rectum. […] In the case of Hirschsprungs Disease, anorectal manometry is used to test the ability of the surrounding muscles and tissues to relax in response to pressure. […] The diagnosis via anorectal manometry was verified with a colon biopsy that showed the absence of ganglia. […] Therefore, the diagnosis of HD can be confidently stated only on the basis of manometric investigations. […] In conclusion, the researchers found that anorectal manometry is a more reliable method for diagnosing Hirschsprungs disease in neonate patients than barium enema x-ray.

• #30 Hirschsprung’s disease – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hirschsprungs-disease/diagnosis-treatment/drc-20351561

  Measuring control of the muscles around the rectum (anal manometry). A manometry test is typically done on older children and adults. The doctor inflates a balloon inside the rectum. The surrounding muscle should relax as a result. If it doesn’t, Hirschsprung’s disease could be the cause. […] Hirschsprung’s disease is often diagnosed in the hospital shortly after birth, or signs of the disease show up later. If your child has signs or symptoms that worry you, particularly constipation and a swollen abdomen, talk to your doctor. […] What tests does my child need?

• #31 Hirschprung’s Disease (HSCR) Diagnosis & Treatment

  https://www.chp.edu/our-services/transplant/intestine/education/intestine-disease-states/hirschprungs-disease

  Hirschsprung’s disease is usually diagnosed during infancy, but can also be diagnosed later. […] Most cases of Hirschsprung’s disease are diagnosed in infancy, although some may not be diagnosed until adolescence or early adulthood. […] Your child’s doctor may use the following tests to rule out or diagnosis Hirschprung’s disease: […] Barium enema injection of fluid into the rectum that makes the colon show up on an X-ray so the doctor can see abnormal areas in the colon. […] Biopsy removal of a sample of the bowel tissue to check for ganglia (or the absence of ganglia). […] Anorectal manometry a small balloon is inserted in the rectum to measure the pressures of the internal and external sphincter.

• #32 Hirschsprung Disease (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/hirschsprung.html

  To diagnose Hirschsprung disease, doctors often do a test called a contrast enema. Contrast is a dye put into the colon using an enema. It shows up well on X-rays and can help doctors get a clearer picture of the colon. (In kids with Hirschsprung disease, the intestine usually appears too narrow where the nerve cells are missing.) […] In some cases, the doctor might do a suction rectal biopsy. This test, which can often be done in the doctor’s office or at a hospital bedside, involves using a suction device to remove some cells from the colon’s mucous lining. This test will show if nerve cells are missing. […] For older kids, doctors may use different tests, such as manometry or a surgical biopsy. Manometry is a test in which a balloon is inflated inside the rectum to see if the anal muscle relaxes as a result. If the muscle doesn’t relax, the child may have Hirschsprung disease. In a surgical biopsy, the doctor removes a sample of tissue from the colon to examine under a microscope.

• #33 Hirschsprung’s Disease: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/1015/p1319.html

  Hirschsprungs disease should be confirmed using rectal suction biopsy. A rectal suction biopsy can detect hypertrophic nerve trunks and the absence of ganglion cells in the colonic submucosa, confirming the diagnosis. The diagnosis can be confirmed with a rectal suction biopsy, which should show the absence of ganglion cells and the presence of hypertrophic nerve trunks. Imaging can help diagnose Hirschsprungs disease. A plain abdominal radiograph may show a dilated small bowel or proximal colon. Contrast enema radiographs of the colon commonly are normal for the first three months of life and indefinitely in patients with total colonic disease. A transition zone (the point where the normal bowel becomes aganglionic) may be visible on a contrast enema radiograph; however, the aganglionic colon will extend beyond this point in about 10 percent of patients. Anal manometry (balloon distention of the rectum) demonstrates the absence of internal anal sphincter relaxation upon rectal distention. Contrast enema and anal manometry are similar in sensitivity and specificity.

• #34 Diagnosis and pathophysiology of Hirschsprung’s disease – Pelviperineology A Multidisciplinary Pelvic Floor Journal

  https://pelviperineology.org/articles/diagnosis-and-pathophysiology-of-hirschsprungs-disease/doi/PPj.2021.40.02.006

  The aim of this research was to study the X-ray findings of Hirschsprungs disease (HD) based on analysis of radiographs and videos published on the Internet and our own research, in order to increase the accuracy of X-ray diagnosis HD. […] The final diagnosis of HD is based on rectal biopsy. Nevertheless, the diagnostic process may involve a contrast barium enema, which in some cases allows to reject the putative diagnosis of HD, and in 70%90% of cases establish the location of the transition zone. […] The gold standard for an HD diagnosis is a rectal biopsy. […] The HD is characterized by a short-term rise in pressure in the upper anal canal in response to rectal dilatation. […] The presence of the reflex reliably excludes HD, to the same extent as in ano-rectal manometry. […] The use of the X-ray functional signs described by us increases the reliability of X-ray diagnostics.

• #35 Frequently Asked Questions about Hirschsprung’s Disease – About Kids GI

  https://aboutkidsgi.org/lower-gi/hirschsprungs-disease/frequently-asked-questions-about-hirschsprungs-disease/

  In the newborn period, diagnosis may be considered when an infant does not pass meconium (first stools of a newborn) within 24 hours of birth, repeatedly vomits material stained yellow or green with bile, or shows signs of abdominal distention (enterocolitis), or a history of constipation in an older infant or child. […] The diagnosis of Hirschsprungs disease will be confirmed by one or more tests, usually a barium enema and rectal biopsy. […] In cooperative adults or older children, manometry (a balloon study of internal anal sphincter pressure and relaxation) is helpful.

• #36 Diagnosis of Hirschsprung Disease – NIDDK

  https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease/diagnosis

  Doctors use a combination of imaging tests, anorectal manometry, and rectal biopsies to diagnose Hirschsprung disease. […] Doctors typically use rectal biopsies to confirm or rule out a diagnosis of Hirschsprung disease. During a rectal biopsy procedure, a doctor will take small pieces of tissue from the rectum. A pathologist will examine the tissue under a microscope to look for signs of Hirschsprung disease.

• #37 Hirschsprung’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Hirschsprung%27s_disease

  Definitive diagnosis is made by suction biopsy of the distally narrowed segment. A histologic examination of the tissue would show a lack of ganglionic nerve cells. Diagnostic techniques involve anorectal manometry, barium enema, and rectal biopsy. The suction rectal biopsy is considered the current international gold standard in the diagnosis of Hirschsprung’s disease. […] Radiologic findings may also assist with diagnosis. An abdominal x-ray can reveal a lack of stool in the large intestine or a bulging caused by blocked stool. Cineanography (fluoroscopy of contrast medium passing anorectal region) assists in determining the level of the affected intestines.

• #38 Hirschsprung’s Disease | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/h/hirschsprung

  A physical exam and testing will be done to diagnose Hirschsprungs disease. Testing includes: […] Rectal biopsy: This is the most important test. It is the only one that can make the diagnosis of Hirschsprungs disease. It involves taking a sample of the cells in the rectum for a pathologist to view under a microscope. The pathologist confirms that a child has Hirschsprungs disease based on the lack of ganglion cells and other abnormal nerve-related findings (such as nerve bundle hypertrophy, calretinin staining, acetylcholinesterase and choline transport). These special tests, in addition to identifying ganglion cells, help determine if a child has Hirschsprungs disease. […] Anal manometry: This test measures anal pressure. It checks the reflexes of the rectum and the anus. This test can be done at the bedside in the hospital room. If your child has a manometry test result that seems to suggest Hirschsprungs disease, a biopsy should be done to be sure of the diagnosis.

• #39 Pediatric Hirschsprung’s Disease – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/hirschsprungs-disease

  Contrast enema. This X-ray exam checks the large intestine for any problems. Your child is given a contrast fluid which coats the colon which can then be seen on an X-ray. The contrast material is put into a tube and inserted into your child’s rectum as an enema. An X-ray of the belly will show any narrowed areas or any blockages. It will also show if the intestine is bulging above a blockage. […] Anorectal manometry. This test is most often used for older children. A small tube is put into the rectum to check how well the rectal muscles are working. If the muscles don’t relax, it may be a sign of Hirschsprung’s disease. […] Biopsy of the rectum or large intestine. A tiny piece of the large intestine is removed. It is checked under a microscope to see if any nerve cells are missing. […] The results of these tests will help your child’s pediatric team make a diagnosis. They will talk with you about the best way to treat your child’s Hirschsprung’s disease.

• #40 Hirschsprung’s Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/hirschsprung-s-disease

  Hirschsprungs disease is most often diagnosed in the newborn period within the first six weeks of life. Symptoms may include: […] A careful physical examination and history are required to see if Hirschsprungs disease is a possible diagnosis. Confirming a diagnosis may include any of the following studies: […] The diagnosis of Hirschsprungs disease can actually be very complicated. Some biopsies are done at a level where they erroneously miss Hirschsprungs disease. […] Suction rectal biopsy involves taking a small sample of the lining of the intestine. This test is performed to provide a more definitive diagnosis if the X-ray and contrast enema suggest Hirschsprungs disease in an infant. […] Full-thickness biopsy is performed if the suction rectal biopsy results are inconclusive or if your child is older. The patient will be placed under general anesthesia and the surgeon will take a thicker piece of intestinal tissue. The tissue sample will be examined under a microscope. This can be done for diagnosis or for planning before surgical treatments, so the doctor can determine where the ganglion cells stop in the intestine.

• #41 Hirschsprung’s Disease | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/hirschsprung-s-disease

  Hirschsprungs disease is most often diagnosed in the newborn period within the first six weeks of life. Symptoms may include: […] A careful physical examination and history are required to see if Hirschsprungs disease is a possible diagnosis. Confirming a diagnosis may include any of the following studies: […] The diagnosis of Hirschsprungs disease can actually be very complicated. Some biopsies are done at a level where they erroneously miss Hirschsprungs disease. […] Suction rectal biopsy involves taking a small sample of the lining of the intestine. This test is performed to provide a more definitive diagnosis if the X-ray and contrast enema suggest Hirschsprungs disease in an infant. […] Full-thickness biopsy is performed if the suction rectal biopsy results are inconclusive or if your child is older. The patient will be placed under general anesthesia and the surgeon will take a thicker piece of intestinal tissue. The tissue sample will be examined under a microscope. This can be done for diagnosis or for planning before surgical treatments, so the doctor can determine where the ganglion cells stop in the intestine.

• #42 Hirschsprung Disease Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/178493-workup

  Guinard-Samuel and colleagues evaluated the diagnostic value of calretinin IHC for Hirschsprung disease in 131 pediatric rectal biopsies. Of the 131 biopsies, 130 were accurately diagnosed based on calretinin staining. […] The diagnostic yield of the full-thickness rectal biopsy is significantly better than that of the suction biopsy. […] Calretinin and HE staining both had a 100% sensitivity, but whereas the specificity was 99.1% for calretinin staining, it was 85.2% for HE.

• #43 Hirschsprung Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562142/

  Hirschsprung disease (HD) is a congenital disorder characterized by the absence of ganglion cells (GC) at the Meissner’s plexus (submucosa) and Auerbach’s plexus (muscularis) of the terminal rectum that extends in a variable distance proximally. […] Its diagnosis relies upon the histopathological examination of rectal biopsies. […] The diagnosis of HD is based on a combination of clinical features, radiological findings, and histopathological evaluation of the biopsied sample. Indeed, the histopathologic examination of the rectal biopsy confirms the diagnosis of the disease by highlighting the association of the absence of GC in the submucosal and myenteric plexus with hypertrophy of nerve fibers in the aganglionic segment. […] To reduce the rate of inconclusive results related to inadequate biopsies, the International Gastroenterology Committee of 2009 defined the criteria for performing preoperative biopsies necessary to ensure a good interpretation.

• #44 Hirschsprung Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562142/

  At least two biopsies should be required, with a minimum diameter of 3mm. […] The presence of the transition zone, a reversal of recto-sigmoid ratio, mucosal irregularity, irregular contraction, and persistent contrast retention (more than 24 hours) are features of HD on a contrast enema. […] Establishing the diagnosis of HD is generally based on pathological documentation compatible with the absence of ganglion cells. […] Anorectal manometry and contrast enema are other investigations for diagnosing Hirschsprung disease. Anorectal manometry is based on the principle that the recto-anal inhibitory reflex (RAIR) is uniformly present in all healthy newborns. The absence of RAIR on manometry is diagnostic for HD.

• #45 Hirschsprung’s Disease: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2006/1015/p1319.html

  Patients typically are referred to a pediatric surgeon or gastroenterologist for biopsy; however, family physicians should be familiar with the procedure to evaluate the outcome of surgery and determine appropriate follow-up. The biopsy site should at least be 0.6 in (1.5 cm) above the dentate line because the distal rectum normally does not have ganglion cells. If no hypertrophic nerve trunks are found, a full-thickness biopsy may be indicated.

• #46 Proposed Recommendations and Guidelines for Diagnosis of Hirschsprung’s Disease in Mucosal and Submucosal Biopsies from the Rectum

  http://www.scielo.org.co/scielo.php?pid=S0120-99572011000400007&script=sci_arttext&tlng=en

  Proposed recommendations and guidelines for diagnosis of Hirschsprungs disease in mucosal and submucosal biopsies from the rectum […] A diagnosis is established by rectal biopsy which requires surgery. […] Diagnosis of HD continues to be a problem in this country because a large proportion of pathologists are uncomfortable doing this study because of the difficulty of evaluating material submitted by the surgeon. […] The key to the success of the study is to begin as soon as the sample is taken. […] The pathologist should clearly understand the classic signs of HD. […] The easiest diagnosis to establish in biopsies of rectal mucosa-submucosa is that normal innervation is present. […] When a series of slides from a good quality biopsy does not show ganglion cells, I do not recommend specific immunostaining studies for bcl-2 or NSE immunoreactive ganglion cells or for Schwann cells (Synaptophysin or S100) because the images are difficult to interpret. […] If the laboratory has access to calretinin, this is a simple and reliable method to help establish a diagnosis of HD. […] My final recommendation is that we must not forget our responsibilities as pathologists when confirm or rule out a diagnosis of HD.

• #47 Hirschsprung Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562142/

  Hirschsprung disease (HD) is a congenital disorder characterized by the absence of ganglion cells (GC) at the Meissner’s plexus (submucosa) and Auerbach’s plexus (muscularis) of the terminal rectum that extends in a variable distance proximally. […] Its diagnosis relies upon the histopathological examination of rectal biopsies. […] The diagnosis of HD is based on a combination of clinical features, radiological findings, and histopathological evaluation of the biopsied sample. Indeed, the histopathologic examination of the rectal biopsy confirms the diagnosis of the disease by highlighting the association of the absence of GC in the submucosal and myenteric plexus with hypertrophy of nerve fibers in the aganglionic segment. […] To reduce the rate of inconclusive results related to inadequate biopsies, the International Gastroenterology Committee of 2009 defined the criteria for performing preoperative biopsies necessary to ensure a good interpretation.

• #48 Hirschsprung’s Disease | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/h/hirschsprung

  A physical exam and testing will be done to diagnose Hirschsprungs disease. Testing includes: […] Rectal biopsy: This is the most important test. It is the only one that can make the diagnosis of Hirschsprungs disease. It involves taking a sample of the cells in the rectum for a pathologist to view under a microscope. The pathologist confirms that a child has Hirschsprungs disease based on the lack of ganglion cells and other abnormal nerve-related findings (such as nerve bundle hypertrophy, calretinin staining, acetylcholinesterase and choline transport). These special tests, in addition to identifying ganglion cells, help determine if a child has Hirschsprungs disease. […] Anal manometry: This test measures anal pressure. It checks the reflexes of the rectum and the anus. This test can be done at the bedside in the hospital room. If your child has a manometry test result that seems to suggest Hirschsprungs disease, a biopsy should be done to be sure of the diagnosis.

• #49 Hirschsprung’s Disease | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/hirschsprungs-disease

  Your child may need to undergo one or more tests to be properly diagnosed with Hirschsprungs disease. […] Most newborns will have the following tests: […] Abdominal X-ray: This test can show signs of obstruction, as well as swollen segments of the large and small intestine. […] Contrast enema: This procedure allows the doctor to examine the large intestine for abnormalities. A special dye that can be seen on X-rays is given via the rectum as an enema. This provides a clearer X-ray and gives your childs doctor a better picture of what is going on. […] Rectal biopsy: This gives us a sample of the rectum to examine under the microscope for the presence or absence of ganglion cells and the presence of hypertrophic nerve trunks (thickened, enlarged bundles of nerve fibers). […] There are other tests that, when abnormal, suggest that Hirschsprung’s may be present. Your child may need to have more testing or a biopsy to confirm or to rule out this diagnosis.

• #50 Hirschsprung’s disease – Pathophysiology – TeachMePaediatrics

  https://teachmepaediatrics.com/surgery/abdominal/hirschsprungs-disease/

  The gold standard for diagnosis is a rectal suction biopsy, as the submucosa needs to be tested for ganglionic cells. This is a simple bedside procedure with a high degree of accuracy and without the risks associated with general anaesthetic. It is important to give adequate antibiotic coverage around the procedure and provide good decompression of the bowel as washouts cannot be performed for 24 hours after the procedure. […] Although its the gold standard for diagnosis, NICE guidelines suggest that rectal suction biopsy should be avoided unless the following clinical features are present: Delayed passage of meconium (more than 48 hours after birth in term babies), Constipation since first few weeks of life, Chronic abdominal distension plus vomiting, Family history of Hirschsprung’s disease, Faltering growth in addition to any of the previous features.

• #51 Hirschsprung Disease Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/178493-workup

  The definitive diagnosis of Hirschsprung disease is confirmed by a full-thickness rectal biopsy demonstrating the absence of ganglion cells. […] The classic finding of Hirschsprung disease is a narrowed distal colon with proximal dilation; however, the findings are difficult to interpret in neonates (age 1 mo) and do not demonstrate this transition zone in approximately 25% of the time. […] Retention of rectal contrast for longer than 24 hours after the barium enema also suggests a diagnosis of Hirschsprung disease. […] Anorectal manometry detects the relaxation reflex of the internal sphincter after distention of the rectal lumen. This normal inhibitory reflex is presumed absent in patients with Hirschsprung disease. […] Studies have suggested that immunohistochemical (IHC) staining for calretinin might be more accurate than acetylcholinesterase staining in diagnosing congenital aganglionosis in suction biopsy specimens.

• #52 Orphanet: Hirschsprung disease

  https://www.orpha.net/en/disease/detail/388

  Diagnosis is based on suction rectal biopsy of rectal mucosa and submucosa that shows aganglionosis, thickened extrinsic nerve fibers and overexpression of acetylcholinesterase. […] Recently, it has been shown that calretinin immunohistochemistry is useful. […] Assessment for associated anomalies allows the detection of syndromic HSCR. […] Plain abdominal radiography, lower gastrointestinal contrast studies, and ultrasound are useful in excluding alternative diagnoses.

• #53 Immunohistochemical Diagnosis of Hirschsprung’s Disease and…

  https://sciendo.com/article/10.1515/chilat-2016-0010

  Hirschsprungs disease accounts for approximately 20% of neonatal bowel obstruction and has a mortality rate of 20 to 25%. As the pathology severely affects a childs quality of life, quick and precise diagnosis is mandatory. […] For years, diagnosis relied completely on histopathological analysis of rectal biopsies using haematoxylin-eosin and acetylcholinesterase stains. However, there have been many attempts to find an immunohistochemical marker that would simplify diagnosis of Hirschsprungs disease. Acceptable markers should be highly sensitive and specific, easy to use and reliable. […] The aim is to disclose the full morphological scope of Hirschsprungs disease and allied disorders by using data available at the Childrens Clinical University Hospital (Riga, Latvia) and to identify the most sensitive and specific immunohistochemical marker for the diagnosis of Hirschsprungs disease and allied disorders.

• #54 Immunohistochemical Diagnosis of Hirschsprung’s Disease and…

  https://sciendo.com/article/10.1515/chilat-2016-0010

  The specificity and sensitivity of each immunohistochemical marker were determined with a MedCalc online calculator. […] Calretinin was characterised by sensitivity/ specificity as high as 90.5%/ 92.9% while these parameters were only 52.4%/ 100.0% for chromogranin A and 33.3%/ 14.3% for synaptophysin. […] Calretinin showed the highest reactivity to ganglion cells and proved to be the most specific and sensitive marker for diagnosis of Hirschsprungs disease and allied disorders.

• #55 Immunohistochemical evaluation of CD34, CD117, and calretinin for diagnosis of hirschsprung’s disease | Surgical and Experimental Pathology | Full Text

  https://surgexppathol.biomedcentral.com/articles/10.1186/s42047-024-00161-5

  Hirschsprungs disease (HD) is a neurogenic intestinal disorder attributed to incomplete neural crest cell migration during fetal intestinal development, leading to an aganglionic segment of the colon and functional obstruction. […] This study aims to evaluate the efficacy of Calretinin and Cajal cells (CD34 and CD117) immunohistochemical staining in improving HD diagnosis. […] In the examination of the samples, the calretinin marker exhibited a consistent accuracy of 100% in diagnosing Hirschsprungs disease (with sensitivity and specificity both at 100%). […] These markers also demonstrated a specificity and sensitivity of 100% in diagnosing the disease. […] Calretinin immunohistochemical staining offers enhanced diagnostic accuracy, while the debate surrounding ICC distribution underscores the need for advanced diagnostic techniques.

• #56 Immunohistochemical evaluation of CD34, CD117, and calretinin for diagnosis of hirschsprung’s disease | Surgical and Experimental Pathology | Full Text

  https://surgexppathol.biomedcentral.com/articles/10.1186/s42047-024-00161-5

  Diagnosing HD relies on rectal biopsies through suction or full-thickness techniques. […] Despite the utility of conventional hematoxylin-eosin (HE) staining, immunohistochemistry (IHC) has emerged as an invaluable tool to enhance diagnostic accuracy. […] Calretinin IHC, in particular, has proven to be highly specific and sensitive for identifying ganglion cells, making it a reliable alternative to traditional methods. […] In this study, calretinin IHC staining was 100% sensitive and specific for the diagnosis of HD. […] In the case of CD117 and CD34 markers for Cajal cells presence, results showed us 100% sensitivity and specificity. […] The use of CD34 and CD117 markers, on the other hand, does not demonstrate adequate specificity in confirming the presence of Cajal cells, and these markers do not demonstrate superior performance when compared to the established conventional staining methods.

• #57 Hirschsprung Disease Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/178493-workup

  Guinard-Samuel and colleagues evaluated the diagnostic value of calretinin IHC for Hirschsprung disease in 131 pediatric rectal biopsies. Of the 131 biopsies, 130 were accurately diagnosed based on calretinin staining. […] The diagnostic yield of the full-thickness rectal biopsy is significantly better than that of the suction biopsy. […] Calretinin and HE staining both had a 100% sensitivity, but whereas the specificity was 99.1% for calretinin staining, it was 85.2% for HE.

• #58 Immunohistochemical Diagnosis of Hirschsprung’s Disease and…

  https://sciendo.com/article/10.1515/chilat-2016-0010

  The specificity and sensitivity of each immunohistochemical marker were determined with a MedCalc online calculator. […] Calretinin was characterised by sensitivity/ specificity as high as 90.5%/ 92.9% while these parameters were only 52.4%/ 100.0% for chromogranin A and 33.3%/ 14.3% for synaptophysin. […] Calretinin showed the highest reactivity to ganglion cells and proved to be the most specific and sensitive marker for diagnosis of Hirschsprungs disease and allied disorders.

• #59 Immunohistochemical evaluation of CD34, CD117, and calretinin for diagnosis of hirschsprung’s disease | Surgical and Experimental Pathology | Full Text

  https://surgexppathol.biomedcentral.com/articles/10.1186/s42047-024-00161-5

  Hirschsprungs disease (HD) is a neurogenic intestinal disorder attributed to incomplete neural crest cell migration during fetal intestinal development, leading to an aganglionic segment of the colon and functional obstruction. […] This study aims to evaluate the efficacy of Calretinin and Cajal cells (CD34 and CD117) immunohistochemical staining in improving HD diagnosis. […] In the examination of the samples, the calretinin marker exhibited a consistent accuracy of 100% in diagnosing Hirschsprungs disease (with sensitivity and specificity both at 100%). […] These markers also demonstrated a specificity and sensitivity of 100% in diagnosing the disease. […] Calretinin immunohistochemical staining offers enhanced diagnostic accuracy, while the debate surrounding ICC distribution underscores the need for advanced diagnostic techniques.

• #60 Hirschsprung Disease Imaging: Practice Essentials, Radiography, Ultrasonography

  https://emedicine.medscape.com/article/409150-overview

  Hirschsprung disease (HD) is characterized by the absence of myenteric and submucosal ganglion cells (Auerbach and Meissner plexuses) along a variable length of the distal GI tract. Most cases of Hirschsprung disease are diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. A diagnostic evaluation should begin with plain abdominal radiography, followed by a contrast enema examination of the colon to confirm the diagnosis of HD. The diagnostic contrast exam has been reported to have an 83.3% sensitivity and an 82.9% specificity for HD. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. A radiological/ultrasonographic study alone is not a sensitive enough tool to exclude HD. Manometry, rectal mucosal biopsy, or both are required for an accurate diagnosis. The predictive value of biopsy is essentially 100% in excluding HD if ganglion cells are present. HD is more definitively diagnosed by means of contrast enema examination, which can show the presence of a transition zone, irregular contractions, mucosal irregularity, and delayed evacuation of contrast material, among other findings. The hallmark of the diagnosis is demonstration of the transition zone from the dilated bowel to the reduced-caliber bowel. According to the results of one study, the use of the rectosigmoid index can in some cases help identify HD in patients when the diagnosis would have been missed by looking at the transition zone alone. In another study, of 192 children suspected of having HD, the sensitivity and specificity for diagnosing HD by the presence of a radiologic transition zone were 86.9% and 92.1%, respectively. Sensitivity and specificity of a contrast enema in the diagnosis of HD are reported as being 76% and 97%, respectively, but may be extremely difficult in total colonic aganglionosis. Many studies have documented that a maximum of 10% of neonates with HD do not have a transition zone on contrast enema.

• #61 Hirschsprung Disease Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/178493-workup

  Guinard-Samuel and colleagues evaluated the diagnostic value of calretinin IHC for Hirschsprung disease in 131 pediatric rectal biopsies. Of the 131 biopsies, 130 were accurately diagnosed based on calretinin staining. […] The diagnostic yield of the full-thickness rectal biopsy is significantly better than that of the suction biopsy. […] Calretinin and HE staining both had a 100% sensitivity, but whereas the specificity was 99.1% for calretinin staining, it was 85.2% for HE.

• #62 Immunohistochemical Diagnosis of Hirschsprung’s Disease and…

  https://sciendo.com/article/10.1515/chilat-2016-0010

  The specificity and sensitivity of each immunohistochemical marker were determined with a MedCalc online calculator. […] Calretinin was characterised by sensitivity/ specificity as high as 90.5%/ 92.9% while these parameters were only 52.4%/ 100.0% for chromogranin A and 33.3%/ 14.3% for synaptophysin. […] Calretinin showed the highest reactivity to ganglion cells and proved to be the most specific and sensitive marker for diagnosis of Hirschsprungs disease and allied disorders.

• #63 Immunohistochemical evaluation of CD34, CD117, and calretinin for diagnosis of hirschsprung’s disease | Surgical and Experimental Pathology | Full Text

  https://surgexppathol.biomedcentral.com/articles/10.1186/s42047-024-00161-5

  Diagnosing HD relies on rectal biopsies through suction or full-thickness techniques. […] Despite the utility of conventional hematoxylin-eosin (HE) staining, immunohistochemistry (IHC) has emerged as an invaluable tool to enhance diagnostic accuracy. […] Calretinin IHC, in particular, has proven to be highly specific and sensitive for identifying ganglion cells, making it a reliable alternative to traditional methods. […] In this study, calretinin IHC staining was 100% sensitive and specific for the diagnosis of HD. […] In the case of CD117 and CD34 markers for Cajal cells presence, results showed us 100% sensitivity and specificity. […] The use of CD34 and CD117 markers, on the other hand, does not demonstrate adequate specificity in confirming the presence of Cajal cells, and these markers do not demonstrate superior performance when compared to the established conventional staining methods.

• #64 Hirschsprung disease — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/hirschsprung-disease/

  The majority of patients receive a diagnosis early in life. Mucosal biopsy is diagnostic, and histology determines how much of the colon is affected and classifies the disease as being either short or long segment. Short-segment disease (affecting only the distal segment of the large intestine) is most common (about 80% of cases) and occurs more often in boys, with a male-to-female gender bias of 4:1. Long-segment disease (affecting most of the large intestine) occurs in about 20% of cases and affects both sexes equally. […] Patients with a confirmed diagnosis of Hirschsprung disease are eligible for genomic testing. Selection of the correct test depends on the presenting clinical features. If a syndromic cause is suspected broader testing is indicated. If the patient has central congenital hypoventilation PHOX2B should be tested. If the Hirschsprung diagnosis is isolated then testing of the RET gene via R177 Hirschsprung disease is appropriate. If there is a family history consistent with multiple endocrine neoplasia this should be included with the test request to aid interpretation.

• #65 A new systematization of histological analysis for the diagnosis of Hirschsprung’s disease | Clinics

  https://www.elsevier.es/en-revista-clinics-22-articulo-a-new-systematization-histological-analysis-S1807593223000340

  A new systematization of histological analysis for the diagnosis of Hirschsprung’s disease […] The treatment is only surgical, for this reason the diagnosis must have a good accuracy. […] This research demonstrates a simplified method to perform the diagnosis with 93% of accuracy. […] A rectal biopsy examination is performed to confirm the diagnosis. […] The study of ganglion cell distribution enabled the creation of a simplified method for reading the slides. The method applied achieved good accuracy and it can be used as an alternative method in HD diagnosis. […] We demonstrated, in a recently published study conducted at our laboratory, that it is possible to get an accurate HD diagnosis only with mucosal and submucosal fragments stained by HE, as long as at least 60 sections of each fragment are analyzed.

• #66 A new systematization of histological analysis for the diagnosis of Hirschsprung’s disease | Clinics

  https://www.elsevier.es/en-revista-clinics-22-articulo-a-new-systematization-histological-analysis-S1807593223000340

  Therefore, with this study, it is possible to affirm that by analyzing a rectal biopsy material every 20 m there is a greater chance of visualizing a submucosal plexus in patients with normal bowel innervation. […] In conclusion, the analysis of rectal submucosa every 20 m showed there is a high probability of finding a ganglion plexus in bowels with normal innervation. This knowledge supported the formulation of a new, simpler, and faster method for pathological evaluation, to be utilized by pathologists for HD diagnosis.

• #67 Hirschsprung’s Disease: Symptoms, Diagnosis, and Treatment – Avisena Women’s & Children’s Specialist Hospital

  https://womenandchildren.avisena.com.my/health-articles/hirschsprungs-disease-what-you-need-to-know/

  This test measures the pressure in the rectum to evaluate nerve and muscle function. It involves inflating a small balloon in the rectum. In Hirschsprungs disease, the normal reflex relaxation of the rectum in response to balloon inflation is absent, indicating a lack of nerve cells. […] Rectal biopsy is crucial for diagnosing Hirschsprungs disease by checking for the absence of ganglion cells in a tissue sample. Types of biopsies include Suction Biopsy for infants and Full-Thickness Biopsy if Suction Biopsy results are inconclusive. […] Genetic testing may be recommended, especially in cases with a family history of Hirschsprungs disease or associated genetic syndromes, such as Down syndrome. […] In complex cases, other imaging studies like abdominal X-rays, CT scans, or ultrasounds may be used to evaluate the extent of intestinal blockage or complications like enterocolitis.

• #68 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/gastrointestinal-tract/hirschsprungs-disease

  Ultrasound diagnosis: The condition is characterized by congenital absence of intramural parasympathetic nerve ganglia in a segment of the colon. The aganglionic segment is unable to transmit a peristaltic wave, and therefore meconium accumulates and causes dilatation of the lumen of the bowel. The ultrasound appearance is similar to that of anorectal atresia, when the affected segment is colon or rectum. […] Investigations: Detailed ultrasound examination. […] Amniocentesis for karyotyping or analysis of cfDNA in maternal blood. […] Follow up: Ultrasound scans every 2-3 weeks to monitor the evolution of the condition and assess amniotic fluid volume. Amniodrainage may be necessary if there is polyhydramnios and cervical shortening. […] Delivery: Place: hospital with neonatal intensive care and facilities for pediatric surgery. Time: 38 weeks. Method: induction of labor aiming for vaginal delivery. […] Prognosis: Postnatal surgery is aimed at removing the affected segment and this may be a two-stage procedure with temporary colostomy. Neonatal mortality is approximately 20%. […] Recurrence: No increased risk of recurrence. Part of trisomy 21: 1%.

• #69 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/gastrointestinal-tract/hirschsprungs-disease

  Ultrasound diagnosis: The condition is characterized by congenital absence of intramural parasympathetic nerve ganglia in a segment of the colon. The aganglionic segment is unable to transmit a peristaltic wave, and therefore meconium accumulates and causes dilatation of the lumen of the bowel. The ultrasound appearance is similar to that of anorectal atresia, when the affected segment is colon or rectum. […] Investigations: Detailed ultrasound examination. […] Amniocentesis for karyotyping or analysis of cfDNA in maternal blood. […] Follow up: Ultrasound scans every 2-3 weeks to monitor the evolution of the condition and assess amniotic fluid volume. Amniodrainage may be necessary if there is polyhydramnios and cervical shortening. […] Delivery: Place: hospital with neonatal intensive care and facilities for pediatric surgery. Time: 38 weeks. Method: induction of labor aiming for vaginal delivery. […] Prognosis: Postnatal surgery is aimed at removing the affected segment and this may be a two-stage procedure with temporary colostomy. Neonatal mortality is approximately 20%. […] Recurrence: No increased risk of recurrence. Part of trisomy 21: 1%.

• #70 Hirschsprung disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/hirschsprung-disease/

  Hirschsprung disease (congenital aganglionic megacolon) is an inherited disorder that primarily affects newborns. […] Diagnostic work-up involves x-ray, contrast enema, and, if initial studies are inconclusive, anorectal manometry. Diagnosis is confirmed with rectal biopsy. […] Obtain imaging (i.e., abdominal x-ray and contrast enema) to identify the site and severity of the obstruction. […] Perform anorectal manometry if initial studies are inconclusive. […] Confirm the diagnosis with a rectal biopsy. […] Rectal biopsy: absence of ganglion cells (aganglionosis). […] Perform a rectal biopsy in children with normal contrast enema or inconclusive findings if there is a high clinical suspicion for Hirschsprung disease.

• #71 Hirschsprung’s disease – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-us/750?locale=fa

  Hirschsprung’s disease is most commonly diagnosed in the first year of life. […] Definitive diagnosis is with a rectal biopsy. […] Key diagnostic factors: vomiting, explosive passage of stool/gas, abdominal distension, delayed passage of meconium, faltering growth, chronic constipation. […] 1st investigations to order: plain abdominal x-ray, contrast enema. […] Investigations to consider: rectal biopsy, anorectal manometry.

• #72 Hirschsprung’s Disease: Symptoms, Diagnosis, and Treatment – Avisena Women’s & Children’s Specialist Hospital

  https://womenandchildren.avisena.com.my/health-articles/hirschsprungs-disease-what-you-need-to-know/

  Diagnosing Hirschsprungs disease requires a thorough evaluation by medical professionals to confirm the absence of nerve cells (ganglion cells) in specific sections of the colon. The process involves several steps, combining clinical examination with specialised tests to ensure an accurate diagnosis. […] Doctors begin by reviewing the patients medical history, including symptoms like chronic constipation, delayed meconium passage, or abdominal bloating. The abdomen is examined for distension, and the rectum is checked for stool blockage. A rectal explosion of gas and stool after a digital rectal exam may indicate the condition. […] A contrast enema is a diagnostic imaging test that involves injecting a contrast material into the rectum to outline the large intestine on X-rays. It helps identify the narrowed (ganglionic) segment of the colon and the dilated portion above it, providing a clear visual clue for Hirschsprungs disease.

• #73 Hirschsprung’s Disease: Symptoms, Diagnosis, and Treatment – Avisena Women’s & Children’s Specialist Hospital

  https://womenandchildren.avisena.com.my/health-articles/hirschsprungs-disease-what-you-need-to-know/

  This test measures the pressure in the rectum to evaluate nerve and muscle function. It involves inflating a small balloon in the rectum. In Hirschsprungs disease, the normal reflex relaxation of the rectum in response to balloon inflation is absent, indicating a lack of nerve cells. […] Rectal biopsy is crucial for diagnosing Hirschsprungs disease by checking for the absence of ganglion cells in a tissue sample. Types of biopsies include Suction Biopsy for infants and Full-Thickness Biopsy if Suction Biopsy results are inconclusive. […] Genetic testing may be recommended, especially in cases with a family history of Hirschsprungs disease or associated genetic syndromes, such as Down syndrome. […] In complex cases, other imaging studies like abdominal X-rays, CT scans, or ultrasounds may be used to evaluate the extent of intestinal blockage or complications like enterocolitis.

• #74 Hirschsprung disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/hirschsprung-disease/

  Hirschsprung disease (congenital aganglionic megacolon) is an inherited disorder that primarily affects newborns. […] Diagnostic work-up involves x-ray, contrast enema, and, if initial studies are inconclusive, anorectal manometry. Diagnosis is confirmed with rectal biopsy. […] Obtain imaging (i.e., abdominal x-ray and contrast enema) to identify the site and severity of the obstruction. […] Perform anorectal manometry if initial studies are inconclusive. […] Confirm the diagnosis with a rectal biopsy. […] Rectal biopsy: absence of ganglion cells (aganglionosis). […] Perform a rectal biopsy in children with normal contrast enema or inconclusive findings if there is a high clinical suspicion for Hirschsprung disease.

• #75

  https://step1.medbullets.com/evidence/17087425

  Hirschsprung’s disease (congenital megacolon) is caused by the failed migration of colonic ganglion cells during gestation. […] A rectal suction biopsy can detect hypertrophic nerve trunks and the absence of ganglion cells in the colonic submucosa, confirming the diagnosis. […] Early diagnosis is important to prevent complications (e.g., enterocolitis, colonic rupture).

• #76 Hirschsprung Disease – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-gastrointestinal-anomalies/hirschsprung-disease

  Hirschsprung disease is a congenital anomaly consisting of a failure of neuronal colonization (and thus a failure of innervation) of the lower intestine, usually limited to the colon, resulting in partial or total functional obstruction. […] The diagnosis may be suggested by evaluation with a barium enema; definitive diagnosis requires a rectal biopsy (suction biopsy or surgical biopsy). […] Diagnosis of Hirschsprung disease should be made as soon as possible. The longer the disease goes untreated, the greater the chance of developing Hirschsprung enterocolitis, a complication that may be fulminant and fatal. Most patients can be diagnosed in early infancy. […] Initial approach is typically with barium enema and/or rectal suction biopsy. […] Barium enema findings (done without prior preparation) and rectal manometry are highly suggestive; diagnosis is confirmed by rectal biopsy. […] Definitive diagnosis requires a surgical or suction biopsy of the rectum and then surgical biopsies to map the extent of disease and thus plan surgical treatment.

• #77

  https://www.banglajol.info/index.php/JEMC/article/view/53536

  Hirschsprungs disease (HD) is a rare genetic congenital defect of intestine causing failure of migration of parasympathetic ganglionic cells in some definite part of intestine, resulting in functional intestinal obstruction. […] High index of suspicion is the main key to diagnosis. Radiological investigation supports the diagnosis and rectal biopsy for histopathology is confirmatory. […] Although it is a surgical problem, physician can play a key role in early diagnosis and thus help to prevent HD enterocolitis-related mortality and restore near-normal life.

• #78 Advances in the Diagnosis and Treatment of Hirschsprung Disease and Its Complications | Frontiers Research Topic

  https://www.frontiersin.org/research-topics/14617/advances-in-the-diagnosis-and-treatment-of-hirschsprung-disease-and-its-complications/magazine

  Hirschsprung disease (HSCR) is a special type of enteric neuropathy, which typically leads to intestinal obstruction in newborns, and has attracted wide attention from pediatric surgeons throughout the world. […] The overarching goal of this Research Topic is to explore the pathophysiological characteristics of enteric neuropathies, to popularize HSCR diagnostic methods, and to standardize HSCR treatment strategies. […] Molecular, immunological and electrophysiological studies focusing on an optimal diagnostic model of HSCR.

• #79

  https://www.termedia.pl/Diagnosis-of-Hirschsprung-s-disease-with-particular-emphasis-on-histopathology-r-nA-systematic-review-of-current-literature,41,23741,0,1.html

  Hirschsprungs disease (HD) is a disorder that involves several medical specialties such as paediatric gastroenterology, paediatric surgery, and pathology. […] Rapid and accurate diagnosis of HD is a key element in further treatment patterns. […] In recent years, rectal biopsy was recognised as an important diagnostic tool that allows for a definitive HD diagnosis with an accuracy of 95% of cases. […] A correct diagnosis depends on the localisation of the biopsied sample, its representativeness, the number of specimens, and proper interpretation of microscopic studies supported by histochemical and immunohistochemical methods. […] When several methods are used and all diagnostic criteria are used, the diagnostic sensitivity can almost eliminate cases of undiagnosed patients.

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