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Hirschsprung disease; congenital megacolon; colonic aganglionosis; aganglionic megacolon
Etiology:
- disorders in which congenital intestinal aganglionosis is seen include:
a) trisomy 21
b) Waardenburg syndrome
c) cartilage-hair hypoplasia
d) Smith-Lemli-Opitz syndrome type II
e) MEN2A & MEN2B
f) primary central hypoventilation syndrome (Ondine-Hirschsprung disease)
g) ABCD syndrome
Epidemiology:
- generally presents in infants
- uncommonly presents in adults, generally in males
Pathology:
1) congenital absence of parasympathetic innervation of the lower intestinal tract, resulting in congenital megacolon
2) absence of enteric neurons in the colonic submucosa & myenteric plexus
3) heterogeneous disorder
Genetics:
- associated with defects in:
a) RET
b) endothelin B receptor
c) endothelin-3 (type 4) [3]
d) GDNF (type 3)
e) endothelin converting enzyme-1
f) neural cell adhesion molecule L1 (L1CAM) may modify effects of another Hirschsprung disease-associated gene
- genetic variations in NRTN may contribute to Hirschsprung disease, in association with mutations of RET gene, & possibly mutations in other loci
Clinical manifestations:
- occurs as an isolated trait in 70% of patients
- occurs with additional congenital anomalies in 18% of cases
Laboratory:
-> colonoscopy with full-thickness biopsy of affected mucosa
Radiology:
-> barium enema may show narrow segment of colon with proximal dilation
Management:
- Botox injection into the internal rectal sphincter
- anorectal myomectomy
Related
megacolon
Specific
Hirschsprung disease with microcephaly & iris coloboma
Hirschsprung disease, cardiac defects & autonomic dysfunction
General
aganglionosis
icolonic motility disorder
genetic disease of the gastrointestinal tract
Database Correlations
OMIM correlations
MORBIDMAP 164761
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, American
College of Physicians, Philadelphia 1998
- Mayo clinic: Hirschsprung's disease
https://www.mayoclinic.org/diseases-conditions/hirschsprungs-disease/symptoms-causes/syc-20351556
- OMIM :accession 613712