In plain words
Hirschsprung disease is present from birth. Nerves that normally help move stool through the lower bowel do not form in part of the colon. The narrow section does not relax, and the bowel above it can swell. The key sign in a newborn is no , called meconium, within about 48 hours of birth. Many other causes can also delay meconium, and most are less serious. It is not caused by anything a mother did during pregnancy. Signs a clinician looks for include a swollen belly, green or yellow vomiting, and long stretches without stool. Most babies are diagnosed in the first weeks of life, and some are found later in childhood. Surgery is the usual treatment.
The deeper version
Hirschsprung disease is an aganglionic segment of distal bowel, caused by failure of enteric neural crest cell migration during roughly weeks 5 to 12 of gestation. The aganglionic segment is contracted and lacks peristalsis, which leads to proximal dilatation. Variants in RET, EDNRB, and other genes are implicated. About three quarters of cases are short-segment, involving the rectosigmoid. Typical presentations are failure to pass meconium within 48 hours, chronic constipation, or enterocolitis. Rectal suction biopsy showing absent ganglion cells is the diagnostic standard, with anorectal manometry as a supporting test. Controversy persists over the timing of surgical pull-through and over long-term bowel function and continence, which vary across published series.
Where it comes up
- Diaper counts and what newborn poop looks likeBaby Basics
- Hiccups, sneezes, grunting, and other normal weird thingsBaby Basics
- When to call the pediatrician (and when to go in)Baby Basics
What mothers here say about Hirschsprung disease
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Sources
- Amiel J, Lyonnet S — Hirschsprung disease, associated syndromes, and genetics: a review. Journal of Medical Genetics, 2001
- National Institute of Diabetes and Digestive and Kidney Diseases — Hirschsprung Disease, patient and clinical overview