Hirschsprung disease

[Sommer]

In Hirschsprung disease, a section of the large intestine is missing the nerve network that controls the intestines rhythmic contractions. Symptoms of intestinal obstruction occur.

This defect affects the large intestine so that normal bowel contractions do not occur.
Typical symptoms include delayed passage of meconium in the newborn, vomiting, refusing to eat, and a swollen abdomen in later infancy.
The diagnosis is based on a rectal biopsy and measurement of the pressure inside the rectum.
Surgery is done to restore the normal passage of food through the intestines.

The large intestine depends on a network of nerves within its walls to synchronize rhythmic contractions and move digested material toward the anus, where the material is expelled as feces. In Hirschsprung disease, the affected section of intestine cannot contract normally. Without these normal contractions, material in the intestines builds up. Sometimes, Hirschsprung disease can lead to life-threatening enterocolitis, which is inflammation of the large intestine (colon).
(See also Overview of Digestive Tract Birth Defects.)

[Marquetta]

Hirschsprung disease is a congenital anomaly of innervation of the lower intestine, usually limited to the colon, resulting in partial or total functional obstruction. Symptoms are obstipation and distention. Diagnosis is by barium enema and rectal biopsy. Anal manometry can help in the evaluation and reveals lack of relaxation of the internal anal sphincter. Treatment is surgical.
(Also see Overview of Congenital Gastrointestinal Anomalies.)
Hirschsprung disease is caused by congenital absence of the Meissner and Auerbach autonomic plexus (aganglionosis) in the intestinal wall. The estimated incidence is 1 in 5000 live births. Disease is usually limited to the distal colon (75% of cases) but can involve the entire colon (5% of cases) or even the entire large and small bowels; the denervated area is always contiguous. Males are more commonly affected (male:female ratio 4:1) unless the entire colon is involved, in which case there is no gender difference.
The etiology of the aganglionosis is thought to be the failure of migration of neuroblasts from the neural crest. There is a significant genetic component to this disorder and at least 12 different genetic mutations are associated with Hirschsprung. The likelihood of disease among family members increases with increasing length of the involved gut—3 to 8% for disease of the distal colon and up to 20% for disease involving the entire colon. About 20 to 25% of patients with Hirschsprung disease have another congenital anomaly, and about 15% have a genetic abnormality (Down syndrome is the most common). About 20% of patients with congenital central hypoventilation syndrome also have Hirschsprung disease; the combination is referred to as Haddad syndrome. About 20% of patients with intestinal neuronal dysplasia (IND) have Hirschsprung disease.
Peristalsis in the involved segment is absent or abnormal, resulting in continuous smooth muscle spasm and partial or complete obstruction with accumulation of intestinal contents and massive dilation of the more proximal, normally innervated intestine. Skip lesions almost never occur.