Hirschsprung

Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric plexus and submucosal plexus, resulting in a functional obstruction and dilatation proximal to the affected segment. It is named after the Danish physician Harald Hirschsprung, who first described the condition in 1886.

Etiology

The exact cause of Hirschsprung's disease is unknown, but it is believed to be due to a combination of genetic and environmental factors. Mutations in several genes, including RET, EDNRB, EDN3, and SOX10, have been associated with the disease. These genes are involved in the development of the enteric nervous system.

Clinical Presentation

Patients with Hirschsprung's disease typically present in the neonatal period with symptoms of intestinal obstruction, such as bilious vomiting, abdominal distension, and failure to pass meconium within the first 48 hours of life. However, some patients may not present until later in life with symptoms of chronic constipation, failure to thrive, or enterocolitis.

Diagnosis

The diagnosis of Hirschsprung's disease is confirmed by a full-thickness rectal biopsy showing the absence of ganglion cells in the myenteric and submucosal plexuses. Other diagnostic tests may include an abdominal X-ray, barium enema, and anorectal manometry.

Treatment

The treatment of Hirschsprung's disease involves surgical removal of the aganglionic segment of the bowel. The most common surgical procedures are the Soave procedure, Swenson procedure, and Duhamel procedure. Postoperative complications may include enterocolitis, anastomotic leak, and fecal incontinence.

Prognosis

With early diagnosis and appropriate treatment, the prognosis for patients with Hirschsprung's disease is generally good. However, long-term follow-up is necessary to monitor for potential complications.

See Also

• Congenital megacolon
• Intestinal obstruction
• Enterocolitis
• Constipation

References

Hirschsprung Resources
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