Chronic constipation due to Hirschsprung's disease and desmosis coli in a family

Donald G. Marshall, W. A. Meier-Ruge, Aravinda Chakravarti, Jacob C. Langer

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)110-114
Number of pages5
JournalPediatric surgery international
Volume18
Issue number2-3
DOIs
StatePublished - Mar 1 2002

Keywords

  • Colonic motility disorder
  • Hirschsprung's disease
  • Hypoperistalsis syndrome
  • Pseudo-Hirschsprung's disease
  • RET proto-oncogene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery

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  • Cite this

    Marshall, D. G., Meier-Ruge, W. A., Chakravarti, A., & Langer, J. C. (2002). Chronic constipation due to Hirschsprung's disease and desmosis coli in a family. Pediatric surgery international, 18(2-3), 110-114. https://doi.org/10.1007/s003830100682