Hirschsprung disease

Hirschsprung disease (HSCR), also known as congenital aganglionic megacolon or congenital intestinal aganglionosis, is a developmental disorder of the enteric nervous system characterized by the absence of ganglion cells (nerve cells) in a variable length of the distal bowel. During fetal development, neural crest cells fail to migrate completely to the end of the intestine, leaving a segment of bowel without the nerve cells needed to coordinate normal bowel movements (peristalsis). The affected segment remains tonically contracted, leading to a functional bowel obstruction. The disease primarily affects the gastrointestinal system, most commonly involving the rectosigmoid colon (short-segment disease, approximately 80% of cases), though it can extend to involve the entire colon (long-segment disease) or rarely the entire intestinal tract (total intestinal aganglionosis). The hallmark presentation in newborns includes failure to pass meconium within the first 48 hours of life, abdominal distension, bilious vomiting, and feeding difficulties. In some cases, the disease may present later in infancy or childhood with chronic severe constipation, failure to thrive, and recurrent episodes of enterocolitis. Hirschsprung-associated enterocolitis (HAEC) is the most serious complication and a leading cause of morbidity and mortality, presenting with explosive diarrhea, fever, abdominal distension, and potentially sepsis. The disease is approximately four times more common in males than females, though females tend to have longer affected segments. Hirschsprung disease can occur as an isolated condition (70% of cases) or in association with other congenital anomalies, including Down syndrome (trisomy 21), and various neurocristopathies such as Waardenburg-Shah syndrome, Mowat-Wilson syndrome, and congenital central hypoventilation syndrome (Haddad syndrome). Diagnosis is established through rectal suction biopsy demonstrating the absence of ganglion cells and the presence of hypertrophied nerve trunks in the affected bowel segment. Contrast enema and anorectal manometry may provide supportive diagnostic information. Treatment is surgical and involves removing the aganglionic segment and connecting (pulling through) the normally innervated bowel to the anus. Several surgical techniques are used, including the Swenson, Duhamel, and Soave pull-through procedures, which can often be performed using minimally invasive laparoscopic approaches. Outcomes are generally favorable with appropriate surgical management, though long-term issues including soiling, constipation, enterocolitis, and bowel dysfunction may persist in some patients and require ongoing management.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Hirschsprung disease