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Congenital disorder characterized by absence of
enteric ganglia along a variable length of the intestine leading to chronic
constipation, abdominal distension, and fecal impaction in infancy, with
growth retardation.
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Hirschsprung Disease; Hirschsprung-Galant Infantilism;
Mya Disease; Ruysch Disease; Aganglionic Megacolon; Colonic Agangliosis;
Congenital Megacolon; Megacolon Congenitum.
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Congenital disorder first described in 1888 by Harald
Hirschsprung, a Danish pediatrician. Can be associated with various
syndromes, such as Down syndrome or Waardenburg-Shah syndrome.
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Approximately 1:5000 live births. Prevalent in males.
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Sporadic cases; 10% of familial cases
(autosomal dominant).
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Hirschsprung disease results from the absence of
parasympathetic ganglion cells in the myenteric and submucosal plexus of the
rectum and/or colon. Ganglion cells, which are derived from the neural
crest, migrate caudally with the vagal nerve fibers along the intestine.
Arrest in migration leads to an aganglionic segment. The transition zone is
seen most frequently in the rectosigmoid region in 70% of cases, but it
can be seen in the small bowel. Five to 10% of cases involve the entire
colon and are called total colonic Hirschsprung disease. Can result from
mutation in any one of several different genes operating either alone or in
combination.
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Diagnosis is clinical at birth in case of failure to
pass meconium (cause of 15-20% of newborns presenting with intestinal
obstructions) or later in children with constipation. Barium enema shows
transition zone between aganglionic contracted segment and dilated proximal
bowel. The definitive diagnosis rests on histologic review of rectal tissue
biopsy (absence of ganglion cells in the myenteric plexuses). Acetylcholinesterase
staining reveals nerve trunk hypertrophy.
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Features include only digestive signs. Of
children with Hirschsprung disease, 17 to 28% develop enterocolitis.
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Evaluate hydration in case of
occlusion (clinical, electrolytes).
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Rapid-sequence induction should be
considered in case of severe colonic occlusion.
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Prophylactic antibiotics considering
translocation risk.
Gabriel SB, Salomon R, Pelet A, et al: Segregation at three loci
explains familial and population risk in Hirschsprung disease.
Nat Genet 31:89, 2002.
[PubMed: 11953745]
Hirschsprung H: Stuhlträgheit Neugeborener in Folge von Dilatation und
Hypertrophie des Colons. Jahrbuch für Kinderheilkunde und physische Erziehung 27:1, 1888.