Hirschsprung Syndrome

At a glance

Congenital disorder characterized by absence of enteric ganglia causing a megacolon. Other features include variable length of denervated intestinal loops leading to chronic constipation, abdominal distension, and fecal impaction in infancy, with growth retardation. The absence of meconium within 48 hours following delivery is suggestive of the disease. Normally, 90% of babies pass their first meconium within 24 hours, and 99% within 48 hours.

Synonyms

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

History

A congenital disorder first described in 1888 by Harald Hirschsprung, a Danish pediatrician. It can be associated with various syndromes, such as Down’s Syndrome or Waardenburg-Shah Syndrome.

Incidence

Approximately 1:5,000 live births. It is usually diagnosed in children, and the prevalence of the disease is more frequent in boys than girls. About 10% of all cases are originally familial.

Genetic inheritance

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

Pathophysiology

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. From 5 to 10% of cases involve the entire colon and are called total colonic Hirschsprung disease. It can result from mutation in any one of several different genes operating either alone or in combination.

Diagnosis

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.

Clinical aspects

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

Precautions before anesthesia

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

Anesthetic considerations

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

Pharmacological implications

Prophylactic antibiotics considering translocation risk.

Other conditions to be considered

The following conditions are often associated with Hirschsprung Disease:

• Down’s Syndrome: Down’s Syndrome is the most frequent chromosomal abnormality associated ...