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Hirschsprung Disease

John Rosen, MD Miguel Saps, MD Ann & Robert H. Lurie Children’s Hospital of Chicago Reviewed by Christine Waasdorp Hurtado , MD of the Professional Education Committee. Hirschsprung Disease. Cases. 2 month-old full term female with abdominal distension who stools every 4 days

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Hirschsprung Disease

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  1. John Rosen, MD Miguel Saps, MD Ann & Robert H. Lurie Children’s Hospital of Chicago Reviewed by Christine WaasdorpHurtado, MD of the Professional Education Committee Hirschsprung Disease

  2. Cases • 2 month-old full term female with abdominal distension who stools every 4 days • 9 year-old male with constipation, 3 admissions required in past for disimpaction and bowel irrigation Hirschsprung Disease

  3. Presentation • Typically full-term, AGA infant • 50% pass meconium in first 48h of life • Common symptoms • bloating, poor feeding, vomiting, constipation • Uncommon symptoms • bowel perforation, genitourinary symptoms • fecal urgency, stool withholding behavior, encopresis • Enterocolitis in 25% of infants with Hirschsprung disease (HD) • diarrhea, fever, lethargy • mortality 6-30%, Hirschsprung Disease

  4. Presentation • First case report in 1886 (Harald Hirschsprung) • 1/5000 live births • 4% risk of HD if sibling also affected • increased risk if long segment HD in family or part of syndrome • review of associated syndromes and genetics • J Med Genet 2001;38:729-739 • 15% of cases have one or more other congenital anomaly • most commonly genitourinary, central nervous system, cardiac • Chromosomal abnormalities in at least 12% of HD cases Hirschsprung Disease

  5. Classification • Congenital neurophysiologic disorder of inadequate intestinal relaxation • Absence of enteric nervous system (ENS) ganglion cells in intestinal segment continuously to internal anal sphincter • ENS developmental progression from neural crest, in cranial to caudal direction, is abnormal • Autosomal dominant or recessive, incomplete penetrance Hirschsprung Disease

  6. Signs and Symptoms • Classic description • distension, constipation, and/or vomiting • stool usually small caliber and ribbon-like • normally placed anus • no stool in distal rectum • rectal mucosa snug to examiner finger • explosive release of gas or liquid as finger removed Hirschsprung Disease

  7. Diagnosis • Typically diagnosed in first 3 months of life • May be diagnosed later in life • 75-90% cases only involve sigmoid and rectum • Genetic testing not routine due to low penetrance • Differential is age dependent • Infants: anal stenosis, imperforate anus, displaced anus • Toddlers and children: functional constipation • All children, secondary considerations: other intestinal obstruction, endocrine or electrolyte abnormality, drug toxicity, sepsis Hirschsprung Disease

  8. DiagnosisImaging • Abdominal XR • dilated gas-filled bowel loops • paucity of gas in rectum (prone films useful) • Un-prepped contrast enema • evaluate for transition zone • should not perform in setting of enterocolitis, after recent rectal biopsy, or after rectal exam • young infants and children with total colonic aganglionosis may not have transition zone Hirschsprung Disease

  9. DiagnosisImaging Hirschsprung Disease

  10. DiagnosisOther • Anorectalmanometry • evaluate for rectoanal inhibitory reflex (RAIR) • requires specialized equipment/expertise • Rectal suction biopsy • may be inadequate in children age > 6 months • Full-thickness rectal biopsy • gold standard • requires anesthesia and sutures Hirschsprung Disease

  11. DiagnosisAnorectalManometry Water-perfusedmanometry system Hirschsprung Disease

  12. DiagnosisBiopsy Hirschsprung Disease

  13. Diagnosis adapted from de Lorijn et al. Systematic Review: JPGN 2006;42:496-505. Prospective: J Pediatr 2005;146:787-92. Hirschsprung Disease

  14. DiagnosisSpecial Consideration • Total colonic aganglionosis • Intestinal neuronal dysplasia • debatable existence/prevalence/etiology • clinically resembles and can coexist with HD • dysganglionosis on biopsy • Ultrashort segment HD/anal achalasia • debatable existence/prevalence/etiology • history more like functional constipation than HD • rectal biopsy may be normal (too proximal) • AR manometry may be useful Hirschsprung Disease

  15. TreatmentEnterocolitis • Identify enterocolitis clinically • Severe – hospitalize, IV fluids, IV antibiotics • Mild – rectal irrigation at home, oral antibiotics • Soft rectal tube • decompression, saline irrigation • Rarely need decompressing ostomy • Surgery Hirschsprung Disease

  16. TreatmentSurgery • Swenson • dissection of rectal wall distally to internal anal sphincter • ganglion-containing bowel anastomosed to within 2 cm of dentate • muscular and mucosal anastomosis, no muscular cuff in place • Duhamel-Martin • extended side to side anastomosis of ganglion-containing intestine to aganglionic left colon • Soave endorectal pull-through • aganglionic intestine dissected circumferentially in seromuscular layer to within 1.5cm anus in older children (1cm in newborns) • ganglionic intestine incised, pulled through muscular cuff and anastomosed to submucusal-mucosal tube 1-2cm proximal to dentate Hirschsprung Disease

  17. TreatmentSurgery Swenson Duhamel-Martin Soave-Boley Hirschsprung Disease

  18. Postoperative Prognosis Gastrointestinal • Constipation • Will require stool softeners, laxatives, and good toileting behavior • Common in childhood, but improve by late adolescence (>90%) • Fecal incontinence • Dysmotility, internal anal sphincter dysfunction, constipation • Aggressive medical management to treat constipation • Enterocolitis • Up to 40% frequency after pull-through procedure • Most episodes in first 2 years post-operatively • Increased risk if anastomotic leak, stricture, or anal stenosis • May be related to bacterial overgrowth Hirschsprung Disease

  19. Postoperative Prognosis • Multidisciplinary clinic with biopsychosocial approach may improve symptomatic outcomes • Few may need additional surgery if repeated enterocolitis, intractable constipation, and/or incontinence • Revision • Malone antegrade colonic enema (MACE) • Anal dilatations • Quality of life excellent after age 15 • fecal incontinence from age 5-15 has most impact on QoL Hirschsprung Disease

  20. TreatmentFuture: Stem Cells • Multipotent and self-renewing cells exist in adult mammalian enteric nervous system • Cells can be obtained from muscularis or mucosa/submucosa (endoscopically) • ENS stem cells can be grown in vitro (neurospheres) and transplanted • Transplanted cells migrate, differentiate, and have functional capacity (in rodents and chicks) Hirschsprung Disease

  21. Summary • Hirschsprung Disease is a disorder of enteric nervous system development • Rectal biopsy is the gold standard of diagnosis • Surgical treatment is required, but medical management of enterocolitis, constipation, and fecal incontinence remain important • After surgical repair, symptoms are common in childhood, but rare in adulthood Hirschsprung Disease

  22. References Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung Disease Consortium. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008 Jan;45(1):1-14. Epub 2007 Oct 26. Review. Belkind-Gerson J, Carreon-Rodriguez A, Benedict LA, Steiger C, Pieretti A, Nagy N, Dietrich J, Goldstein AM. Nestin-expressing cells in the gut give rise to enteric neurons and glial cells. NeurogastroenterolMotil. 2012 Sep 23. [epub ahead of print] DiLorenzo C, Solzi GF, Flores AF, Schwankovsky L, Hyman PE. Colonic motility after surgery for Hirschsprung's disease. Am J Gastroenterol. 2000 Jul;95(7):1759-64. Engum S, Grosfeld J. Long-term results of treatment of Hirschsprung's disease. SeminPediatr Surg. 2004 Nov;13(4):273-85. Imseis E, Gariepy C. Hirschsprung’s Disease. In: Kleinmen R, Goulet O, Mieli-Vergani G et al. eds. Walker’s Pediatric Gastrointestinal Disease. 5th ed. Sheldon, CT: People’s Medical Publishing House; 2008: 683-92. de Lorijn F, Kremer L, Reitsma J, Benninga M. Diagnostic tests in Hirschsprung disease: a systematic review. J PediatrGastroenterolNutr. 2006 May;42(5):496-505 de Lorjin F, Reitsma J, Voskuiil W, Aronson D, Kate F, Smets A, Taminiau J, Benninga M. Diagnosis of Hirschsprung's disease: a prospective, comparative accuracy study of common tests. J Pediatr. 2005 Jun;146(6):787-92. Masi P, Miele E, Staiano A. Pediatric Anorectal Disorders. GastroenterolClin N Amer. 2008 Sep;37(3):709-30. Mattei P. Hirschsprung’s Disease. In: Wyllie R, Hyams J. eds. Pediatric Gastrointestinal and Liver Disease. 4th ed. Online; Elsevier; 2012. van Kuyk EM, Brugman-Boezeman AT, Wissink-Essink M, Oerlemans HM, Severijnen RS, Bleijenberg G. Defecation problems in children with Hirschsprung's disease: a prospective controlled study of a multidisciplinary behavioural treatment. ActaPaediatr. 2001 Oct;90(10):1153-9. Yanchar NL, Soucy P. Long-term outcome after Hirschsprung's disease: patients' perspectives. J Pediatr Surg. 1999 Jul;34(7):1152-60. Hirschsprung Disease

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