Hirschsprung's disease
Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Most children develop signs and symptoms shortly after birth. However, others may be diagnosed later in infancy or early childhood. About half of all children with Hirschsprung's disease are diagnosed in the first year of life. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.
| Hirschsprung's disease | |
|---|---|
| Other names | Aganglionic megacolon, congenital megacolon, congenital intestinal aganglionosis |
| Histopathology of Hirschsprung disease showing abnormal acetylcholine esterase (AchE)-positive nerve fibers (brown) in the mucosa | |
| Specialty | Medical genetics |
| Symptoms | Constipation, vomiting, abdominal pain, diarrhea, slow growth |
| Complications | Enterocolitis, megacolon, bowel obstruction, intestinal perforation |
| Usual onset | First 2 months of life |
| Types | Short-segment, long-segment |
| Causes | Genetic |
| Risk factors | Family history |
| Diagnostic method | Based on symptoms, biopsy |
| Differential diagnosis | Chronic intestinal pseudo-obstruction, meconium ileus |
| Treatment | Surgery |
| Frequency | 1 in 5,000 newborns |
The disorder may occur by itself or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome. About half of isolated cases are linked to a specific genetic mutation, and about 20% occur within families. Some of these occur in an autosomal dominant manner. The cause of the remaining cases is unclear. If otherwise normal parents have one child with the condition, the next child has a 4% risk of being affected. The condition is divided into two main types, short-segment and long-segment, depending on how much of the bowel is affected. Rarely, the small bowel may be affected, as well. Diagnosis is based on symptoms and confirmed by biopsy.
Treatment is generally by surgery to remove the affected section of bowel. The surgical procedure most often carried out is known as a "pull through". Occasionally, an intestinal transplantation may be recommended. Hirschsprung's disease occurs in about one in 5,000 of newborns. Males are more often affected than females. The condition is believed to have first been described in 1691 by Dutch anatomist Frederik Ruysch and is named after Danish physician Harald Hirschsprung following his description in 1888.