Five members of a family are described, all of whom suffered from chronic constipation and megacolon. Detailed clinical and histologic evaluation of each member revealed that two individuals have histologic evidence of desmosis coli and three have Hirschsprung's disease, one of whom also has desmosis coli. The latter combination has never been described before, either in a family or in a single patient. Genetic studies of the family did not reveal an increase in the number of shared markers for the RET proto-oncogene, suggesting that this previously undescribed familial association is likely not caused by a mutation in the RET gene, but by other genetic abnormalities.
- Colonic motility disorder
- Hirschsprung's disease
- Hypoperistalsis syndrome
- Pseudo-Hirschsprung's disease
- RET proto-oncogene
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health