E.L. is a 14-day-old Asian male, with a 5-day history of nonbilious, nonbloody emesis, decreased oral intake, and increasing abdominal distention. Thirty-six hours prior to admission, he had one large stool after receiving a glycerin suppository. Prior to this, he had not had stool output in several days. An abdominal radiograph displayed large distended loops of bowel. A nasogastric tube was placed for abdominal decompression, which produced a large amount of bilious output at the time of placement. E.L. was placed NPO and received rectal irrigations every 4 hours to expel gas and stool from the colon. A barium enema study was completed, which showed an abnormal rectosigmoid index with narrowing of the rectum and moderate distention of the sigmoid, proximal colon, and small bowel (Figure 1). A rectal suction biopsy was performed, and the pathology reported no ganglion cells were seen.
HIRSCHSPRUNG'S DISEASE
Hirschsprungs disease (HD) is a common congenital condition that affects the large intestine by not allowing stool to pass though the colon due to the absence of intrinsic enteric ganglion cells. Holschreider and Puri state that approximately 80% of patients present in the first few months of life (Noviello, Cobellis, Romano, Amici, & Martino, 2010). HD can cause constipation, diarrhea, or vomiting. It is imperative that the diagnosis is determined as early as possible in order to avoid life-threatening complications such as toxic megacolon or enterocolitis.
HD is congenital and has a familial tendency. The gold standard for diagnosis of HD is a rectal suction biopsy. This procedure allows physicians to remove a portion of the colon's mucous lining and evaluate if ganglion cells are absent, which is indicative of HD. Heightened awareness of HD, improved nursing care, and rectal suction biopsies have all contributed to early diagnosis and effective management. In some instances, a barium enema study is completed prior to a rectal suction biopsy. This study uses an enema to place the contrast into the colon to radiographically illuminate it, providing a clearer picture. When children have HD, the intestine generally appears to be narrowed in the section where ganglion cells are missing (transition zone) (De La Torre & Langer, 2010).
Once a definitive diagnosis of HD is determined, it is then necessary to intervene surgically. The most common intervention is an endorectal pull-through procedure. With the use of laparoscopic techniques, the diseased portion of the rectal mucous lining is removed, a lower bowel resection is performed, and a coloanal anastomosis is done. Another option is known as a two-part procedure with the creation of an ostomy. Creating the ostomy removes the unhealthy section of the colon without ganglion cells and reattaches the remaining portion to the rectum. Ostomy creation allows the lower portion of the colon to heal. During the second phase, the normal healed portion of the colon is reconnected to the rectum with hopes that the child will resume a normal stooling pattern.
After surgical intervention, prognosis for children with HD tends to be very good. Children usually must (a) continue with a bowel regimen in order to prevent the high occurrence of constipation, (b) maintain adequate hydration, and (c) have a high-fiber diet.
E.L. had an endorectal pull-through operation with coloanal anastomis performed. He tolerated the procedure well. He resumed his normal diet of breast milk and began to have regular bowel movements.
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