Hirschsprung Syndrome

Congenital disorder characterized by absence of enteric ganglia along a variable length of the intestine leading to chronic constipation, abdominal distension, and fecal impaction in infancy, with growth retardation.

Hirschsprung Disease; Hirschsprung-Galant Infantilism; Mya Disease; Ruysch Disease; Aganglionic Megacolon; Colonic Agangliosis; Congenital Megacolon; Megacolon Congenitum.

Congenital disorder first described in 1888 by Harald Hirschsprung, a Danish pediatrician. Can be associated with various syndromes, such as Down syndrome or Waardenburg-Shah syndrome.

Approximately 1:5000 live births. Prevalent in males.

Sporadic cases; 10% of familial cases (autosomal dominant).

Hirschsprung disease results from the absence of parasympathetic ganglion cells in the myenteric and submucosal plexus of the rectum and/or colon. Ganglion cells, which are derived from the neural crest, migrate caudally with the vagal nerve fibers along the intestine. Arrest in migration leads to an aganglionic segment. The transition zone is seen most frequently in the rectosigmoid region in 70% of cases, but it can be seen in the small bowel. Five to 10% of cases involve the entire colon and are called total colonic Hirschsprung disease. Can result from mutation in any one of several different genes operating either alone or in combination.

Diagnosis is clinical at birth in case of failure to pass meconium (cause of 15-20% of newborns presenting with intestinal obstructions) or later in children with constipation. Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel. The definitive diagnosis rests on histologic review of rectal tissue biopsy (absence of ganglion cells in the myenteric plexuses). Acetylcholinesterase staining reveals nerve trunk hypertrophy.

Features include only digestive signs. Of children with Hirschsprung disease, 17 to 28% develop enterocolitis.

Evaluate hydration in case of occlusion (clinical, electrolytes).

Rapid-sequence induction should be considered in case of severe colonic occlusion.

Prophylactic antibiotics considering translocation risk.