Intestinal microvillous atrophy in a patient with Down syndrome and aganglionic megacolon

Ultrastruct Pathol. 2002 Jan-Feb;26(1):41-5. doi: 10.1080/01913120252934323.

Abstract

Intestinal microvillous disorders are an uncommon cause of severe diarrhea, with very poor prognosis. The authors report the case of a female infant with Down syndrome, aganglionic megacolon, severe diarrhea, and jejunal biopsy with ultrastructural changes consistent with microvillous atrophy. The patient condition improved after a colostomy performed in the setting of the treatment of Hirschprung disease.

Publication types

  • Case Reports

MeSH terms

  • Acetylcholinesterase / analysis
  • Atrophy / complications
  • Atrophy / pathology
  • Colon / enzymology
  • Colon / pathology
  • Colostomy
  • Diarrhea, Infantile / etiology
  • Diarrhea, Infantile / pathology
  • Down Syndrome / complications
  • Down Syndrome / pathology*
  • Enterocytes / enzymology
  • Enterocytes / ultrastructure
  • Female
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / pathology*
  • Hirschsprung Disease / surgery
  • Humans
  • Infant
  • Intestinal Mucosa / enzymology
  • Intestinal Mucosa / ultrastructure*
  • Jejunum / metabolism
  • Jejunum / pathology
  • Periodic Acid-Schiff Reaction
  • Treatment Outcome

Substances

  • Acetylcholinesterase