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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]], 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==
<references />

[[Category:Congenital disorders]]
[[Category:Gastrointestinal disorders]]
[[Category:Pediatric disorders]]

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Hirschsprung - Revision history

Prab at 17:28, 18 March 2025

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