IX. HIRSCHSPRUNG DISEASE (CONGENITAL AGANGLIONOSIS)
HIrschprung disease results from a congenital absence of intramuscular
(Auerbach’s) and submucosal (Meissner’s) plexi or autonomic ganglionic cells in
segment of intestine.
Peristalsis does not occur in affected segment, which leads to dilation with the
passage of time.
The length of aganglionic segment is variable, but the most common location
where the “transition zone” between normally innervated intestine to the aganglionotic
segment is the rectosigmoid area (85%).
Hirschprung disease is associated with Trisomy 21. Most cases of Hirschprung
disease are sporadic. However, familial cases are well-documented. The ret-
protooncogene has been associated with Hirschprung disease. If there is a family
history, the patient may have long segment disease (transition zone above the
rectosigmoid area)
Clinical Presentation
A baby with Hirschprung disease presents with abdominal distention and,
sometimes, vomiting. A careful history usually elicits that the baby failed to pass
meconium within 24 hours after birth.
Often, rectal stimulation with a digital rectal examination allows stool to pass.
Diagnosis