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Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric plexus and submucosal plexus of the gastrointestinal tract. This condition is named after the Danish physician Harald Hirschsprung, who first described the disease in 1886.

Etiology

The primary cause of Hirschsprung's disease is a genetic mutation that affects the normal development of the nervous system in the gut during fetal development. The most commonly associated genes are the RET proto-oncogene and the EDNRB gene. However, the exact cause is not fully understood and is likely to involve a combination of genetic and environmental factors.

Pathophysiology

In Hirschsprung's disease, the absence of ganglion cells in the myenteric and submucosal plexus leads to a functional obstruction of the bowel. This is because these cells are essential for the coordination of peristalsis, the wave-like contractions that move food through the digestive tract. The affected segment of the bowel is unable to relax and pass stool, leading to a buildup of feces and enlargement of the bowel (megacolon).

Clinical Presentation

The symptoms of Hirschsprung's disease usually become apparent shortly after birth. The most common symptom is a failure to pass meconium within 48 hours of birth. Other symptoms may include abdominal distension, vomiting, constipation, and failure to thrive. In older children and adults, chronic constipation and abdominal distension are the most common symptoms.

Diagnosis

The diagnosis of Hirschsprung's disease is typically confirmed through a combination of clinical history, physical examination, and diagnostic tests. These tests may include a barium enema, anorectal manometry, and a rectal biopsy to confirm the absence of ganglion cells.

Treatment

The treatment for Hirschsprung's disease is surgical removal of the affected segment of the bowel. This is typically performed in two stages: a temporary colostomy to allow the bowel to heal, followed by a pull-through procedure to reconnect the healthy parts of the bowel. In some cases, a single-stage procedure may be possible.

Prognosis

With early diagnosis and treatment, the prognosis for individuals with Hirschsprung's disease is generally good. However, complications such as enterocolitis and bowel obstruction can occur, and long-term follow-up is necessary to monitor for these complications.

See Also

• Congenital disorders
• Gastrointestinal tract
• Genetic disorders
• Pediatric surgery