1 / 22

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

boatright
Download Presentation

Hirschsprung Disease

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. 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

  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-perfused manometry 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. Neurogastroenterol Motil. 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. Semin Pediatr 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 Pediatr Gastroenterol Nutr. 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. Gastroenterol Clin 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. Acta Paediatr. 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

More Related