Am J Gastroenterol. Langer JC, Durrant AC, de la Torre L, et al. Your doctor will advise you about this. [Medline]. J Pediatr Surg. [Medline]. 2015 Dec 2. Hirschsprung disease. J Pediatr Surg. 2020 Aug 11. Li N, Zhang W, Yu D, et al. A typical case however, will be marked by severe constipation, bloating, abdominal tenderness and vomiting of bile, which has been pushed back up into the stomach, due to intestinal over-crowding. 2013 May. Int J Colorectal Dis. Hirschsprung disease in the U.S. associated Pacific Islands: more common than expected. Expression and significance of neuroligins in myenteric cells of Cajal in Hirschsprung's disease. Vanderwinden JM, Rumessen JJ, Liu H, Descamps D, De Laet MH, Vanderhaeghen JJ. PLoS One. 1996 Aug. 31(8):1155-6; discussion 1156-7. One-stage transanal Soave pullthrough for Hirschsprung disease: a multicenter experience with 141 children. A few days after birth, the surgeon will divert the bowel through a temporary opening (stoma) made in the tummy. Guidelines for the management of postoperative soiling in children with Hirschsprung disease. 1995 May. Jeffrey J DuBois, MD Chief of Children's Surgical Services, Division of Pediatric Surgery, Kaiser Permanente, Women and Children's Center, Roseville Medical Center, Jeffrey J DuBois, MD, is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, and California Medical Association. [Medline]. Your child's doctor may use the following tests to rule out or diagnosis Hirschprung's disease: Barium … Other symptoms include a distended (swollen) abdomen (tummy) and vomiting bile (green fluid). Okamoto E, Takashi U. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. Long-term outcome of laparoscopic Duhamel procedure for extended Hirschsprung's disease. [Medline]. So it is most commonly diagnosed in newborn babies. 1999 May. 12(2):124-31. 123(3):1182-91. 2008 May247(2):428-34. doi: 10.1148/radiol.2472070182. 2013. De la Torre L, Ortega A. Transanal versus open endorectal pull-through for Hirschsprung's disease. 1948 Jul. [Medline]. 10:30-2. 6,7 Failure to pass meconium in the first 24 hours of life is the classic presenting symptom and warrants further evaluation. Rectal irrigations for the prevention of postoperative enterocolitis in Hirschsprung's disease. Approximately 1% of patients with Hirschsprung disease have debilitating incontinence requiring a permanent colostomy. A: Plain abdominal radiograph showing a transition zone (PARTZ) at the rectosigmoid. Shayan K, Smith C, Langer JC. Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease. [Medline]. J Pediatr Surg. Pediatr Surg Int. Hotta R, Stamp LA, Foong JP, et al. Management of Hirschsprung's disease in children with trisomy 21. [Medline]. Transplanted progenitors generate functional enteric neurons in the postnatal colon. Versteegh HP, Johal NS, de Blaauw I, Stanton MP. Functional analyses of RET mutations in Chinese Hirschsprung disease patients. Primary laparoscopic-assisted endorectal colon pull-through for Hirschsprung's disease: a new gold standard. [Full Text]. Please confirm that you would like to log out of Medscape. These procedures can be done using either: Speak to your surgeon about the best option for your child. E: Contrast enema showing a CETZ at the midsigmoid. This occurs because faeces … It was so scary in the beginning, but it has become second nature to us now. [Full Text]. Varying lengths … J Pediatr Surg. The disease usually presents in infancy, although some patients present with persistent, severe constipation later in life. [Medline]. However, if a very small section of the bowel is affected, symptoms may be less severe. Functional outcomes in Hirschsprung disease: a single institution's 12-year experience. 28(5):689-96. 12(3):207-11. Most children are able to pass stools normally and have a normal functioning bowel after surgery, although they may take a bit longer to toilet train. Pediatr Dev Pathol. Your child's tummy will usually be examined and sometimes a rectal examination may be carried out. Transitions in care from pediatric to adult general surgery: Evaluating an unmet need for patients with anorectal malformation and Hirschsprung disease. D: Contrast enema showing a contrast enema transition zone (CETZ) at the rectosigmoid. The developmental etiology and pathogenesis of Hirschsprung disease. [Medline]. 1990 Apr. In long-segment Hirschsprung disease, nerve cells are missing from most or all of the large intestine and sometimes the last part of the small intestine. The diagnosis can be confirmed by doing a rectal biopsy, which involves inserting a small instrument into your child's bottom to remove a tiny sample of the affected bowel. Calretinin immunohistochemistry versus acetylcholinesterase histochemistry in the evaluation of suction rectal biopsies for Hirschsprung Disease. 2000 Nov. 35(11):1630-2. Reports of long-term outcomes after definitive repair for Hirschsprung disease are conflicting. [Medline]. In: Hirschsprung Disease and Allied Disorders. 2009 Oct. 22(10):1379-84. Cell Tissue Res. Most children with Hirschsprung disease show symptoms in the first few weeks of life. 33(4):455-60. Totally transanal LESS pull-through colectomy: a novel approach for avoiding abdominal wall incision in children with long-segment intestinal aganglionosis. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon. Ralls MW, Coran AG, Teitelbaum DH. 1986 Apr. But the condition is usually picked up soon after birth and treated with surgery as soon as possible. One-stage Soave pull-through for Hirschsprung's disease: a comparison of the transanal and open approaches. BS Anand, MD Professor, Department of Internal Medicine, Division of Gastroenterology, Baylor College of Medicine A new diagnostic scoring system to differentiate Hirschsprung's disease from Hirschsprung's disease-allied disorders in patients with suspected intestinal dysganglionosis. When Henry’s surgeon gave us the diagnosis, it set off a wave of emotions that I can’t really explain. Vorobyov GI, Achkasov SI, Biryukov OM. [Full Text]. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours of birth. Why do the patients with Hirschsprung disease get redo pull-through operation?. Elhalaby EA, Teitelbaum DH, Coran AG, Heidelberger KP. 2019 Oct. 29(5):431-6. BS Anand, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American Gastroenterological Association, American Society for Gastrointestinal EndoscopyDisclosure: Nothing to disclose. Puri P, Montedonico S. Hirschsprung disease: clinical features. Reoperative surgery for Hirschsprung's disease. Hirschsprung disease in young children often leads to symptoms of severe constipation or diarrhea. Infants can present with abdominal distension, constipation with megacolon, and … Gastroenterology. Tran VQ, Lam KT, Truong DQ, et al. 34(7):1136-41. Laparoscopic Swenson pull-through: a comparison with the open procedure. 8(6):466-79. The prognosis of babies with Hirschsprung disease depends on the extent of the condition, and the presence of complications or other abnormalities. In a child with Hirschsprung disease, stool moves through the bowel until it reaches the part lacking nerve cells. Smooth muscle from aganglionic bowel in Hirschsprung's disease impairs neuronal development in vitro. Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease. Signs of the condition in a baby include: Signs in older infants and children include: Visit your GP if your child develops the symptoms described above. 1995 Jul. J Pediatr Surg. Meza-Valencia BE, de Lorimier AJ, Person DA. J Pediatr Surg. Close menu. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. [Full Text]. Yanchar NL, Soucy P. Long-term outcome after Hirschsprung's disease: patients' perspectives. 1994 Jan. 83(1):68-71. Most cases of Hirschsprung's disease are diagnosed in infancy, although some may not be diagnosed until adolescence or early adulthood. Arch Intern Med (Chic). ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease. The influence of Down's syndrome on the management and outcome of children with Hirschsprung's disease. Colorectal Dis. Curran TJ, Raffensperger JG. Of the two false positive Hirschsprung disease patients, one had biopsies with normal ganglion cells and was later diagnosed with pseudo-obstruction, and the other had necrotizing enterocolitis. Vivek V Gumaste, MD Associate Professor of Medicine, Mount Sinai School of Medicine of New York University; Adjunct Clinical Assistant, Mount Sinai Hospital; Director, Division of Gastroenterology, City Hospital Center at Elmhurst; Program Director of GI Fellowship (Independent Program); Regional Director of Gastroenterology, Queens Health Network Many healthy infants and children have difficulty passing stool or infrequent bowel movements. [Medline]. for: Medscape. Myenteric plexus in congenital megacolon; study of 11 cases. Surgery. This is a simple bedside procedure with a high degree of accuracy and without the risks associated with general anaesthetic (6). [Medline]. Int J Clin Exp Pathol. Predicting sexual problems in young adults with an anorectal malformation or Hirschsprung disease. [Medline]. It affects cells both in the myenteric and submucosal plexuses 4. Retinoic acid accelerates the specification of enteric neural progenitors from in-vitro-derived neural crest. The main signs and symptoms of Hirschsprung disease are constipation or intestinal obstruction, usually appearing shortly after birth. Images courtesy of Pratap A, Gupta DK, Tiwari A, et al. [Guideline] Kyrklund K, Sloots CEJ, de Blaauw I, et al. [Medline]. F: Contrast enema showing a CETZ at descending colon. This chapter details the various approaches used to treat and prevent this disease process. Ann Surg. Page last reviewed: 19 February 2019 [Medline]. Symptoms in infants include difficult bowel movements, poor feeding, poor weight gain, and progressive … Orphanet J Rare Dis. For some reason, the cells did not develop in that area when the baby was growing in the womb. 2006 Oct 1574(8):1319-22. It is responsible for non-specific symptomatology, including chronic constipation and neonatal obstruction. [Guideline] Langer JC, Rollins MD, Levitt M, et al, for the American Pediatric Surgical Association Hirschsprung Disease Interest Group. It's not clear why this happens, but it's not thought to be caused by anything the mother did while she was pregnant. [Medline]. Pediatr Surg Int. Steven L Lee, MD Chief of Pediatric Surgery, Harbor-UCLA Medical Center; Associate Clinical Professor of Surgery and Pediatrics; University of California, Los Angeles, David Geffen School of Medicine J Pediatr Surg. It can help to: Call your doctor immediately if your child develops problems such as a swollen belly, a fever or foul-smelling diarrhoea. Heanue TA, Pachnis V. Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies. Sometimes it leads to serious colon complications, like enterocolitis and toxic megacolon, which can be life-threatening. 2001 Sep. 281(3):G602-11. Kubota M, Suita S, Kamimura T, Ito Y, Szurszewski JH. Menezes M, Corbally M, Puri P. Long-term results of bowel function after treatment for Hirschsprung's disease: a 29-year review. J Laparoendosc Adv Surg Tech A. 1991. Symptoms in newborns include: No bowel movement within 48 hours after birth Am J Physiol Gastrointest Liver Physiol. Comparisons may be useful for a differential diagnosis: Chronic intestinal pseudo-obstruction (CIP) is a rare, potentially disabling gastrointestinal disorder characterized by abnormalities affecting the involuntary, coordinated muscular contractions (a process called peristalsis) of … 1982 Oct. 83(4):947-8. 159(4):402-4. J Pediatr Surg. Menu Cairo SB, Chiu PPL, Dasgupta R, et al, for the American Academy of Pediatrics Section on Surgery's Delivery of Surgical Care Committee. [Full Text]. Han-Geurts IJ, Hendrix VC, de Blaauw I, Wijnen MH, van Heurn EL. So MT, Leon TY, Cheng G, et al. 229(5):678-82; discussion 682-3. Days later, Henry underwent a biopsy of the bowel wall, which confirmed his diagnosis: Hirschsprung’s Disease. [Medline]. 2012 Nov. 21(4):328-35. This can cause severe constipation and occasionally lead to a serious bowel infection called enterocolitis if it's not identified and treated early on. [Open access.] 2017 May. 2013 Jul. This includes prevention of complications, such as stricture formation, prophylaxis with rectal washouts, and identification of high-risk individuals. [Medline]. Interstitial cells of Cajal in human colon and in Hirschsprung's disease. 2013 Mar 1. Am Fam Physician. Nat Rev Neurosci. 107-13. [Guideline] Saadai P, Trappey AF, Goldstein AM, et al, for the American Pediatric Surgical Association Hirschsprung Disease Interest Group. Teitelbaum DH, Caniano DA, Qualman SJ. [Medline]. Long-term outcome of bowel function for 110 consecutive cases of Hirschsprung's disease: Comparison of the abdominal approach with transanal approach more than 30 years in a single institution - is the transanal approach truly beneficial for bowel function?. Mod Pathol. Chen Y, Nah SA, Laksmi NK, et al. New York, NY: Springer; 2008. Eur J Pediatr Surg. This causes a blockage. The register-based Hirschsprung disease diagnosis could be confirmed by medical records in 20/22 (91%) patients. [Medline]. This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease… Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. 1993 Feb. 22(2):163-8. 2006 Dec. 22(12):987-90. J Pediatr Surg. Whitehouse FR, Kernohan JW. Radiology. J Pediatr Surg. Hirschsprung Disease Hirschsprung disease (aganglionic megacolon) occurs when certain nerve cells in the wall of the colon do not form the right way when the fetus is growing. 23(2):94-102. 2011. Outcome after anal intrasphincteric Botox injection in children with surgically treated Hirschsprung disease. Pini Prato A, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P. A prospective observational study of associated anomalies in Hirschsprung's disease. Belin B, Corteville JE, Langer JC. The … Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor … [Medline]. Most cases of Hirschsprung disease are diagnosed in the newborn period. [Medline]. [Medline]. Hirschsprung disease (HSCR) is a disease of the large intestine or colon. Percutaneous cecostomy: updates in technique and patient care. Pediatr Surg Int. Hirschsprung disease, a common cause of neonatal and infantile large gut obstruction, [ 1] was first described in 1886 by Harold Hirschsprung as a cause of constipation in early infancy. [Medline]. Diagnostic value of rectal suction biopsies using calretinin immunohistochemical staining in Hirschsprung's disease. [Medline]. 15(8):553-8. In Hirschsprung's disease, the nerves that control this movement are missing from a section at the end of the bowel, which means poo can build up and form a blockage. The research on screening differentially expressed genes in Hirschsprung's disease by using Microarray. J Pediatr Urol. Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. J Pediatr Surg. You can also read advice about soiling in children. If a child with Hirschsprung disease has symptoms and signs of a high-grade intestinal obstruction, initial therapy should include intravenous hydration, withholding of enteral intake, and intestinal and gastric decompression. Single-incision laparoscopic versus conventional laparoscopic endorectal pull-through for Hirschsprung's disease: a comparison of short-term surgical results. J Pediatr Surg. At first they'll probably have a sore bottom when they poo. 2013 Sep. 48(9):1919-23. 2005 Apr. [Medline]. Histopathology. A small number of children have problems controlling their bowels (bowel incontinence), which can last until they're a teenager and be very distressing. How accurate is prenatal sonography for the diagnosis of imperforate anus and Hirschsprung disease?. [Full Text]. 2016 Dec. 12(6):352-60. Acetylcholinesterase histochemistry (AChE)--a helpful technique in the diagnosis and in aiding the operative procedures of Hirschsprung disease. [Medline]. 1995. Enterocolitis associated with Hirschsprung's disease: a clinical histopathological correlative study. 2009 Jan. 44(1):271-7; discussion 277. Your child should recover well and their bowels should function normally after surgery. Pediatr Surg Int. I. Functional development and plasticity of interstitial cells of Cajal networks. [Medline]. It is thought to either occur from a failure of neuroblasts in neural crest cells to migrate into bowel segments or degeneration of already migrated neuroblasts. Hirschsprung-associated enterocolitis remains the greatest cause of morbidity and mortality in children with Hirschsprung disease. This website also contains material copyrighted by 3rd parties. In general, more than 90% of patients with Hirschsprung disease report satisfactory outcomes; however, many patients experience disturbances of bowel function for several years before normal continence is established. 25(23):5265-75. Kessmann J; Hirschsprung's disease: diagnosis and management. 1999 Jul. 98(5):1052-7. [Medline]. Typically, Hirschsprung disease is diagnosed shortly after birth, although it may develop well into adulthood, because of the presence of megacolon, or because the baby fails to pass the first stool (meconium) within 48 hours of delivery. Marty TL, Seo T, Sullivan JJ, Matlak ME, Black RE, Johnson DG. It mainly affects babies and young children. 34(7):1152-60. Pediatr Dev Pathol. 2016 Dec. 51(12):2005-9. J Pediatr Surg. Di Lorenzo C, Solzi GF, Flores AF, Schwankovsky L, Hyman PE. The main symptom of Hirschsprung’s disease is constipation, which cannot be treated using laxatives or softeners. [Medline]. 2013 Nov. 48(11):2281-8. Shant Shekherdimian, MD, MPH Resident Physician, Department of Pediatric Surgery, Hospital for Sick Children; Toronto, Ontario, CanadaDisclosure: Nothing to disclose. Millar AJ, Steinberg RM, Raad J, Rode H. Anal achalasia after pull-through operations for Hirschsprung's disease -- preliminary experience with topical nitric oxide. [Medline]. [Medline]. Justin P Wagner, MD is a member of the following medical societies: American College of Surgeons, American Pediatric Surgical Association, Association for Academic Surgery, Association for Surgical Education, Association of Program Directors in SurgeryDisclosure: Nothing to disclose. What Are the Signs & Symptoms of Hirschsprung Disease? J Pediatr Surg. Hirschsprung's disease is a condition which is present from birth. [Medline]. Agrawal RK, Kakkar N, Vasishta RK, Kumari V, Samujh R, Rao KL. Gaillard D. Congenital aganglionic colon in mice. [Medline]. Hirschsprung's disease Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. If your child is not well enough to have this procedure (for example, because they have enterocolitis or a severe blockage), they may have it in 2 stages. Smith GH, Cass D. Infantile Hirschsprung disease - is barium enema useful?. Repeat pull-through surgery for complicated Hirschsprung's disease: indications, techniques, and results. Pediatr Emerg Care. Intestinal contents build up behind the blockage. 162(1):1-15. Normally, the bowel continuously squeezes and relaxes to push poo along, a process controlled by your nervous system. Areas without these nerves cannot push material through. 48 suppl 2:S92-4. 2012 Jan. 94(1):47-51. Kim HJ, Kim AY, Lee CW, et al; Hirschsprung disease and hypoganglionosis in adults: radiologic findings and differentiation. 2011 Oct. 27(10):1053-7. Some investigators report a high degree of satisfaction, whereas others report a significant incidence of constipation and incontinence. 2019 Aug. 35(8):829-34. [Medline]. [Medline]. 8(6):e67205. Hum Mol Genet. This procedure is called a colostomy formation. Friedmacher F, Puri P. Residual aganglionosis after pull-through operation for Hirschsprung's disease: a systematic review and meta-analysis. Langer JC. If your GP suspects the condition, they'll refer you to hospital for tests to confirm the diagnosis. So it's important to diagnose and treat Hirschsprung disease as early as possible. Electrophysiological properties of the aganglionic segment in Hirschsprung's disease. This can cause severe constipation and occasionally lead to a serious bowel infection called enterocolitis if it's not identified and treated early on. [Medline]. This occurs because faeces are pushed through the bowel until they reach the affected part. Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug ReferenceDisclosure: Received salary from Medscape for employment. This is where a doctor or nurse inserts a finger into the back passage (rectum) to feel for abnormalities. Eur J Pediatr Surg. Transanal endorectal pull-through versus transabdominal approach for Hirschsprung's disease: a systematic review and meta-analysis. Chen D, Mi J, Wu M, Wang W, Gao H. Expression of dishevelled gene in Hirschsprung's disease. Its diagnosis … [Medline]. 2003 Apr. 30(7):1023-6; discussion 1026-7. Clinical features' diagnostics and treatment of Hirschsprung's disease in adults. 48(3):642-51. Diagn Pathol. Am J Gastroenterol. B: Plain abdominal radiograph showing a PARTZ at the midsigmoid. Colonic motility after surgery for Hirschsprung's disease. Qin KW, Shi H, Zhang L, Liu PF, Cai WL, Wu KH. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. 1999. Georgeson KE, Cohen RD, Hebra A, et al. [Medline]. Hirschsprung's disease and intestinal neuronal dysplasia--a frequent association with implications for the postoperative course. Get an urgent appointment if your child has the symptoms of Hirschsprung's disease, as well as: These could be the signs of a bowel infection (enterocolitis), which can be serious and lead to sepsis. J Pediatr Surg. [Medline]. Muller CO, Rossignol G, Montalva L, et al. 36(7):1032-5. This is then examined under the microscope to see if the nerve cells are missing. Minkes RK, Langer JC. 2010 Dec. 12(12):1242-8. Levitt MA, Hamrick MC, Eradi B, Bischoff A, Hall J, Pena A. Transanal, full-thickness, Swenson-like approach for Hirschsprung disease. 6:318-21. In Hirschsprung's disease, these ganglion cells are missing from a section at the end of bowel, extending up from the anus, the opening in the bottom that poo passes through. Guinard-Samuel V, Bonnard A, De Lagausie P, et al. Dev Biol. Levitt MA, Martin CA, Olesevich M, Bauer CL, Jackson LE, Pena A. Hirschsprung disease and fecal incontinence: diagnostic and management strategies. 1989 Dec. 24(12):1271-7. Hawaii Med J. Hirschsprung's disease most commonly involves the rectosigmoid region of the colon but can affect the entire colon and, rarely, the small intestine. [Medline]. Khasanov R, Schaible T, Wessel LM, Hagl CI. 2003 May. Am J Surg Pathol. [Medline]. [Medline]. A prospective study of botulinum toxin for internal anal sphincter hypertonicity in children with Hirschsprung's disease. If Hirschsprung's disease is suspected, an X-ray can be done to show a blockage and bulge in the bowel. Holschneider AM, Puri P, eds. Birth Defects Res A Clin Mol Teratol. Hirschsprung's disease can be serious if left untreated, so it's important to get help as soon as possible. Urological and sexual outcome in patients with Hirschsprung disease: A systematic review. If you log out, you will be required to enter your username and password the next time you visit. 2002 Jan. 131(1 suppl):S288-93. A variety of diagnostic tests including contrast enema and anorectal manometry … Frith TJR, Gogolou A, Hackland JOS, et al. Role in diagnosis and management. 3rd ed. 2009 Jan-Feb. 12(1):6-15. [Medline]. RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. Symptoms of the following disorders can be similar to those of Hirschsprung disease. J Pediatr Surg. 35(6):820-2. [Full Text]. [Medline]. J Pediatr Gastroenterol Nutr. The gold standard for diagnosis is a rectal suction biopsy, as the submucosa needs to be tested for ganglionic cells. [Medline]. 2017 Mar. Hirschsprung’s disease (congenital megacolon) is caused by the failed migration of colonic ganglion cells during gestation. Yang WI, Oh JT. 2016 Dec 1. Stools will pass directly out of the opening into a pouch worn on your child's body until they're well enough to have another procedure to remove the affected section of bowel, close the opening and join the healthy sections of bowel together. 2004 Sep. 39(9):1345-8. 2016 Dec. 40(12):1637-46. 30(5):652-4. 2009 Apr. The pathophysiology of Hirschsprung's-associated enterocolitis: importance of histologic correlates. Pediatr Surg Int. 2000 Jun. 1999 Oct. 13(10):972-4. Langer JC, Seifert M, Minkes RK. The distribution of NCAM in the chick hindlimb during axon outgrowth and synaptogenesis. [Medline]. Hirschsprung-associated enterocolitis: prevention and therapy. 82(1):75-111. Han JW, Youn JK, Oh C, Kim HY, Jung SE, Park KW. Although HSCR may present at different ages and with varied clinical findings, the most common presentation is a neonate with severe constipation or signs of intestinal obstruction. [Medline]. 95(7):1759-64. Frykman PK, Short SS. As this part of the bowel cannot squeeze rhythmically to push the faeces through the bowel, the faeces cannot move any further. PLoS One. As they wait for surgery, they may need to: Your child may need to stay in hospital during this time, or you may be able to look after them at home. 1992 Jan. 27(1):76-81. 2016 Dec. 26(12):1032-5. Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprung's disease. [Medline]. 33(5):523-6. 2013 Nov. 48(11):2289-95. Radiology. Tips to help you get the most from a visit to your child’s healthcare provider: Know the reason for the visit and what you want to happen. [Medline]. J Pediatr Surg. In many cases, there are signs within the … 1996 Oct. 111(4):901-10. About 80% of patients with Hirschsprung disease are diagnosed in the first few months of life, but in about 20% of cases, the diagnosis is made beyond the newborn period. [Medline]. Wu XJ, Zhang HY, Li N, et al. Hirschsprung disease (HD) is a congenital disorder defined by the absence of ganglion cells (GC) at the Meissner’s plexus of the submucosa and Auerbach’s plexus of the muscularis in the terminal rectum that extends in a variable distance proximally. Orphanet J Rare Dis. J Pediatr Surg. [Medline]. Schmittenbecher PP, Sacher P, Cholewa D, et al. 2016 Dec. 51(12):2010-4. Hirschsprung disease is a congenital disease where the large intestine does not have nerve cells needed to expel stools (feces) normally from the body. [Medline]. Speak to your GP if this is a problem. 2(5):437-43.