Hirschsprung's

• What is Hirschsprung's disease?


  Congenital condition

  Nerve cells of myenteric plexus are absent in distal bowel & rectum
• Pathophys - Hirschsprung's 


  During foetal development, parasympathetic ganglion cells start higher in GIT & gradually migrate down to the distal colon & rectum

  In Hirschsprung's, parasympathetic ganglion cells do not travel all the way down the colon -> section of colon at the end is left without parasympathetic ganglion cells -> aganglionic section of colon does not relax -> always constricted -> loss of movement of faeces & obstruction in bowel -> proximal to obstruction, bowel becomes distended & full
• What are the RFs of Hirschsprung's disease?


  FHx of Hirschsprung's

  Other syndromes (Downs syndrome, neurofibromatosis, Waardenburg syndrome, multiple endocrine neoplasia type II)
• What are the signs & symptoms of Hirschsprung's?


  Severity of presentation & age of diagnosis depends on extent of bowel affected

  Delay in passing meconium

  Chronic constipation since birth

  Abdo pain & distension

  Vomiting

  Poor weight gain & failure to thrive
• What is Hirschsprung's-associated enterocolitis?


  Inflammation & obstruction of intestine -> life threatening

  Occurs in 20% of neonates with Hirschsprung's disease

  Presents within 2-4 weeks of birth -> fever, abdominal distension, diarrhoea (often bloody) & features of sepsis

  Can lead to toxic megacolon & bowel perforation

  Tx -> Abx, fluid resus & decompression of obstructed bowel
• What are the DDx of Hirschsprung's?


  Meconium-plug syndrome

  Cystic fibrosis

  Small left colon syndrome

  Hypothyroidism

  Cerebral injury

  Chronic constipation

  Distal small bowel atresia or stenosis
• What are the Inx of Hirschsprung's?


  Obs

  Full Hx & examination

  Rectal biopsy -> will confirm absence of ganglionic cells

  Abdominal XR
• What are the possible complications of Hirschsprung's?


  Enterocolitis

  Incontinence (surgically-associated)
• What is the management of Hirschsprung's?


  Unwell children

  • fluid resus
  • management of intestinal obstruction
  • IV Abx (in HAEC)

  Definitive treatment = surgical removal of aganglionic section of bowel