Bradnock, T.J., Knight, M., Kenny, S., Nair, M. and Walker, G.M. Pediatr Surg Int. Stasis of faeces leads to bacterial overgrowth, particularly of Clostridium difficile, Staphylococcus aureus, and anaerobes, within the colon. Acta Paediatr. J Pediatr Surg. The most frequent postoperative complications include enterocolitis after the Swenson procedure, constipation following the Duhamel repair, and diarrhea and incontinence after the Soave pull-through procedure. The absence of these nerve cells results in bowel obstruction, preventing normal bowel movements. B: Plain abdominal radiograph showing a PARTZ at the midsigmoid. Surgery. After surgery, prophylactic antibiotics and colon irrigations can be initiated to help prevent HAEC (4). Hirschsprung disease affects all races; however, it is roughly 3 times more common among Asian-Americans. In patients with Hirschsprung disease, both myenteric and submucosal plexuses are absent. [Medline]. Ann Surg. [caption id="attachment_15297" align="alignnone" width="431"], [caption id="attachment_15302" align="alignnone" width="418"], https://radiopaedia.org/cases/hirschsprung-disease?lang=us, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=388, 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. [Medline]. 2010 Dec. 12(12):1242-8. Patients may present postoperatively with abdominal distention, emesis, or constipation indicative of ongoing obstruction. J Pediatr Surg. [Medline]. J Laparoendosc Adv Surg Tech A. The most common accepted aetiology of this disease is due to the arrest of the neuroblast, derived from neural crest cell migration in fetal development between week 8 to 12. [Medline]. [21]. [Medline]. 2019;38:437) 21 year old man and 22 year old woman who presented with Hirschsprung disease as young adults (Ann Med Surg (Lond) 2019;48:59) Biopsy findings in an infant with trisomy 21 and very short segment Hirschsprung disease (Pediatr Dev Pathol 2016;19:87) Serial anorectal dilatations or surgical revision of the pull-through may be required. Int J Colorectal Dis. 10 day old boy with Hirschsprung disease and a distal skip area (Fetal Pediatr Pathol. Pathophysiology. Nerve cells normally help control muscles that allow stool to move through the colon. 2012 Jan-Feb. 15(1):30-8. RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. This can be treated with internal sphincterotomy, intrasphincteric botulinum toxin, or nitroglycerin paste. 1992 Jan. 27(1):76-81. If you log out, you will be required to enter your username and password the next time you visit. Orphanet J Rare Dis. The emergency treatment for suspected enterocolitis is with fluid resuscitation, bowel decompression and broad-spectrum IV antibiotics (1). 2003 May. [Medline]. Figure 2: Histopathology of Hirschsprung’s Disease also known as aganglionosis. 8(6):466-79. During normal prenatal development, cells from the neural crest migrate into the large intestine (colon) to form the networks of nerves called the myenteric plexus (Auerbach plexus) (between the smooth muscle layers of the gastrointestinal tract wall) and the submucosal plexus (Meissner plexus) (within the submucosa of the gastrointestinal tract wall). 2017 Apr. As the disease progresses, the intestinal lumen fills with a fibrinous exudate, and the risk of perforation increases. [20] This disease occurs more often in males than in females, with a male-to-female ratio of approximately 4:1; however, the ratio in long-segment disease decreases to 2:1. This page includes the following topics and synonyms: Hirschsprungs Disease, Hirschprungs Disease, Hirschsprung Disease, Congenital Aganglionic … Gosemann JH, Friedmacher F, Ure B, Lacher M. Open versus transanal pull-through for Hirschsprung disease: a systematic review of long-term outcome. Hirschsprung disease results from the absence of enteric neurons within the myenteric and submucosal plexus of the rectum and/or colon. 2015 Dec 2. Yet a recent study in the UK and Ireland cautioned against overly relying on this symptom, as it was only present in approximately 26% of the cases. 1989 Dec. 24(12):1271-7. [Medline]. Uncommonly, Hirschsprung's disease is first diag… So MT, Leon TY, Cheng G, et al. Steven L Lee, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Association for Academic Surgery, Society of Laparoendoscopic Surgeons, International Pediatric Endosurgery Group, Pacific Association of Pediatric Surgery, Society of American Gastrointestinal and Endoscopic SurgeonsDisclosure: Nothing to disclose. Myenteric plexus in congenital megacolon; study of 11 cases. Levitt MA, Martin CA, Olesevich M, Bauer CL, Jackson LE, Pena A. Hirschsprung disease and fecal incontinence: diagnostic and management strategies. [Medline]. Long term prognosis is generally positive, with many patients acquiring faecal continence. Hirschsprung disease, a common cause of neonatal and infantile large gut obstruction, was first described in 1886 by Harold Hirschsprung as a cause of constipation in early infancy. Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease. [Open access.] Frykman PK, Short SS. Di Lorenzo C, Solzi GF, Flores AF, Schwankovsky L, Hyman PE. Pediatr Surg Int. Dasgupta R, Langer JC. In the absence of extrinsic signals, bowel function remains adequate, owing to the complex reflexive architecture of the enteric nervous system (ENS). J Pediatr Surg. Try again to score 100%. 2009 Jan-Feb. 12(1):6-15. Smith GH, Cass D. Infantile Hirschsprung disease - is barium enema useful?. 2012 Jan. 94(1):47-51. 20th ed.. edn. [Medline]. A Good First STEP, With Caveats, Myopathies: Muscling Your Way to the Diagnosis, GI Physicians Urge COVID-19 Vaccines for All IBD Patients, Clinical Practice Guidelines on the Diagnosis and Treatment of Acute Calculus Cholecystitis (WSES, 2020), 'Antireflux' Lifestyle Might Help Prevent GERD Symptoms, Green-Enriched Mediterranean Diet Can Double Intrahepatic Fat Loss, Curb NAFLD, Practice-Changing Pearls From New Diverticulitis Guidelines, Elobixibat: A Novel Treatment for Chronic Constipation. Contrast enema demonstrating transition zone in the rectosigmoid region. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. Operative mortality rates for any of the interventional procedures are very low. Enterocolitis accounts for significant morbidity and mortality in patients with Hirschsprung disease and can progress into toxic megacolon. Li N, Zhang W, Yu D, et al. 2(5):437-43. Potential complications for the complex operations associated with Hirschsprung disease encompass the entire spectrum of gastrointestinal surgical complications. Tran VQ, Lam KT, Truong DQ, et al. 2016 Dec. 26(12):1032-5. Thakkar HS, Bassett C, Hsu A, et al. Most cases of Hirschsprung disease are diagnosed in the newborn period. 1986 Apr. Management of 30 cases. Histology of the transition zone in Hirschsprung disease. The classic triad of abdominal distension, bilious vomiting, and failure to pass meconium is present in around 25% of Hirschsprung patients (2). 2013 Dec. 23(12):1020-3. 2017 Feb. 52(2):277-80. 23(3):276-80. Acquired aganglionosis following surgery for Hirschsprung's disease: a report of five cases during a 33-year experience with pull-through procedures. J Pediatr Surg. J Pediatr Surg. Rahman Z, Hannan J, Islam S. Hirschsprung’s disease: Role of rectal suction biopsy-data on 216 specimens. Medical Scholar November 22, 2020. Chen Y, Nah SA, Laksmi NK, et al. Ophthalmologic problems affect 43% of infants, 20% have congenital anomalies of the genitourinary tract, 5% have congenital heart disease, 5% have hearing impairment, and 2% have central nervous system anomalies. J Pediatr Urol. [Medline]. 2009 Apr. 2000 Nov. 35(11):1630-2. 2016 Nov. 32(11):785-8. Urological and sexual outcome in patients with Hirschsprung disease: A systematic review. Guidelines for the management of postoperative soiling in children with Hirschsprung disease. /viewarticle/937512 Even rarer, the distal small bowel is affected, and this is associated with a high mortality and morbidity (1). J Pediatr Surg. The classic finding on contrast is a short transition zone between the proximal end of the colon and the narrow distal end of colon (see: https://radiopaedia.org/cases/hirschsprung-disease?lang=us). Curran TJ, Raffensperger JG. Learn hirschsprung disease with free interactive flashcards. [Full Text]. 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