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Hershsprung's Disease

Hershsprung's disease (congenital megacolon) is caused by failure of migration of enteric ganglia derived from the neural crest cells. This migration occurs from cranial to caudal and explains why the anus (just above the dentate line) is always involved in Hirschsprung's disease. As the lack of nerve connections moves proximally, progressively more colon is involved. In 75% of cases, the rectosigmoid area is involved, 15% to 20% extends variably to the rest of the colon, and in the most severe cases the entire colon (5%-10%) or the entire intestinal tract (<1%) can be affected. This progressive failure of migration of neural crest-derived connections explains why no skip areas are found in patients with Hirschsprung's disease and why once the transition zone is accurately identified (by biopsy), the definitive resection and surgical reconstruction of the gastrointestinal (GI) tract can be Hershsprung's disease, Hirschsprungs disease, Herschsprung's disease Hirshprung's, Hirshprungs, Hirsprung

The incidence of Hirschsprung's disease is 1 in 5000 live births and has a male-to-female predominance of 4:1; however, in long-segment Hirschsprung's disease (total colon) this is not the case with a male-to-female ratio approaching 1:1. No racial predilection exists for this disease, and affected infants are usually term babies

Clinical Findings at Presentation

With an increasing number of cases diagnosed in the newborn period, failure to pass meconium in the first 24 to 48 hours of life is the most consistent finding (95%). These babies can appear well, and with early discharge postdelivery, the diagnosis can be missed in the newborn nursery. In other newborns, the symptoms progress more quickly, and low intestinal obstruction is manifested by a history of abdominal distention, vomiting (which may become bilious or feculent), and obstipation. The most severely affected infants can present with a history of lethargy, fever, obtundation, and even profound shock. These infants (suffering from

The physical findings present are determined by the age at presentation and the severity of the illness. In the newborn period, well, but constipated, infants have distended, soft abdomens with normal or hyperactive

Diagnostic Studies

The critical diagnostic tests are anorectal manometry and histologic examination of the rectal biopsy segment.

Anorectal manometry measures the reaction of the internal anal sphincter, the most distal smooth muscle segment of the GI tract (aganglionic in all cases of Hirschsprung's disease), to balloon distention of the rectum. The normal reaction to this filling of the rectum is internal anal sphincter relaxation. In patients with

The required diagnostic test to diagnose Hirschsprung's disease is a rectal biopsy revealing the absence of ganglion cells. This can be accomplished by rectal suction biopsy, rectal punch biopsy, or operative

Rectal punch biopsies, first described in 1972, are safe, reliable, and also virtually complication free while providing a deeper specimen. The specimen is obtained in the newborn nursery using a rectal speculum and

In virtually all cases of suspected Hirschsprung's disease, a plain abdominal radiograph is obtained. In neonates, this frequently reveals distended bowel loops with an abrupt cut-off below the pelvic brim. A lateral film can be helpful in this regard, revealing a relatively airless rectum. Rectal examinations before this study can

Special Diagnostic Concerns

Total colon Hirschsprung's disease and ultrashort-segment Hirschsprung's disease can create diagnostic challenges that should be mentioned. With total colon Hirschsprung's disease, patients may initially present with cecal or ileal perforation as newborns. Therefore, a biopsy for ganglion cells should routinely be

Treatment

In all cases of Hirschsprung's disease, operative intervention is the definitive treatment. The current debate on therapy deals with one-stage repair in the newborn period (open or laparoscopic) versus the conventional multistage repair requiring colostomy and

Long-Term Complications, Prognosis, and Follow-Up

As previously described, evaluation of long-term results for all three operations is relatively similar. Approximately 65% to 85% of patients eventually achieve excellent results with normal bowel habits, no soiling, and infrequent constipation. An additional 15% to 20% of patients report

Hirschsprung's enterocolitis can occur preoperatively and postoperatively (either after colostomy or definitive repair). The reported incidence varies from 20% to 60%, and in older reports it was the principal cause of