Tricho-hepato-enteric syndrome presenting with mild colitis

Eur J Pediatr. 2009 Aug;168(8):933-5. doi: 10.1007/s00431-008-0861-4. Epub 2008 Nov 4.


Introduction: A four and half-year-old girl was admitted to our clinic with the complaints of diarrhea since birth and failure to thrive.

Discussion: The characteristic findings in physical examination were facial dysmorphism, hepatomegaly, and wooly hair. Trichorrhexis nodosa was established in microscopic hair examination. Colonoscopy and histopathologic examination of colonic mucosa revealed mild colitis. In the light of previously published cases, this patient was accepted as a mild variant of syndromic (phenotypic) diarrhea or tricho-hepato-enteric syndrome. We conclude that a mild phenotypic variant of this disease exists that may present with colitis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child, Preschool
  • Colitis / etiology*
  • Diarrhea / congenital*
  • Face / abnormalities*
  • Failure to Thrive / etiology
  • Female
  • Hair / abnormalities*
  • Humans
  • Liver Diseases*
  • Syndrome