Hirschsprung’s disease is a congenital disorder in which there is limited or absent intestinal motility due to a lack of ganglion cells in the intestine.
The deficiency of ganglion cells present in Hirschsprung's disease prevents the intestine from receiving appropriate signals from the nervous system, resulting in constant sympathetic stimulation; and therefore, increased bowel tone. Because the intestine is in a contracted state, peristalsis does not occur.
A newborn’s first stool is called meconium. In a healthy newborn, meconium should be passed within the first 24 hours after birth. An infant that does not pass meconium within 24 to 48 hours after birth, or one that requires digital stimulation to pass meconium should be evaluated for Hirschsprung’s disease.
Neonates with Hirschsprung's disease may exhibit a feeding intolerance, or refusal to feed, with bilious vomiting.
Infants with this disease may have a distended abdomen, due to the retention of stool.
There may be no stool present on the examiner’s finger after a digital rectal exam; however, the exam can stimulate the bowel and subsequently cause forceful expulsion of stool.
A digital rectal examination (DRE) may produce enough stimulation to cause forceful expulsion of fecal matter after the exam is complete.
Surgical resection of bowel is typically performed to remove the aganglionic section of the bowel, thus restoring motility and relieving obstruction. Anal stricture and incontinence may occur following a pull-through surgical procedure. Chronic problems of constipation and fecal incontinence may occur after surgery.
The patient may need a temporary colostomy after surgery is performed to resect the bowel. A colostomy will facilitate waste removal while the bowel heals. The earlier the diagnosis of the condition is made, the proximal bowel may not distend extremely. This allows for a primary pull-through (Soave) surgery and the elimination of needing to have a temporary colostomy.
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