3.10 Hirschsprung's Disease Flashcards
Where in the digestive system is affected by Hirschsprung’s?
distal bowel and rectum
What plexus are nerve cells absent from in Hirschsprung’s?
the myenteric plexus aka Auerbach’s plexus
What cells are missing from the myenteric / Auerbach’s plexus in Hirschsprung’s?
absence of parasympathetic ganglion cells
during development they migrate down from higher in the GI, disease occurs when they do not reach the end
What is it called if the entire bowel is affected by Hirschsprung’s?
total colonic aganglionosis
Is family history relevant to Hirschsprung’s?
Yes, take careful family history (different genes of different Chr)
Hirschsprung’s normally occurs in isolation, however what other conditions could be associated with it?
- Down’s syndrome
- neurofibromatosis
- Waardenburg syndrome (blue eyes, hearing loss, patches of white skin and hair)
- MEN type 2
Presentation of Hirschsprung’s?
acute obstruction after birth or:
- meconium >24 hours
- chronic constipations
- abdo pain and distention
- vomiting
- poor weight gain
What can lead to toxic megacolon?
Hirschsprung-associated enterocolitis (HAEC)
affects 20% of Hirschsprung’s
How does HAEC present?
Hirschsprung-associated enterocolitis (HAEC):
- first 2-4weeks of life
- fever
- diarrhoea (poss with blood)
- abdo distension
- features of sepsis
What initial investigation might you do in Hirschsprung’s?
x-ray:
- intestinal obstruction
- features of HAEC
What Ix confirms the diagnosis of Hirschsprung’s?
rectal biopsy demonstrating absence of ganglionic cells
Definitive management of Hirschsprung’s?
removal of ganglionic section of bowel (may leave some degree of incontinence)
(unwell children you first you do fluids, manage obstruction and Abx if HAEC)
