Congenital intractable diarrhea with possible defective crypt regeneration: report of a case.

R. L. Chen, M. H. Chang, C. L. Chen

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A male infant, born uneventfully from a consanguinous marriage, presented with intractable watery diarrhea from his third day of life, with subsequent malnutrition and failure to thrive. He received central parenteral nutrition beginning at three months of age after a poor response to a semielemental diet and peripheral parenteral nutrition. He was totally dependent on central parenteral nutrition thereafter. Although diarrhea disappeared with strict bowel rest, intolerance to minimal enteral feedings persisted throughout his 2 years 4 months of life. Investigations including stool examinations and repeated cultures, immune function studies, radiologic studies of the small bowel and screening for galactosemia and cystic fibrosis could not demonstrate a specific cause for the diarrhea. Repeated small intestinal biopsies at 1 month, 4 months and 1 year 5 months of age showed persistent villous atrophy with crypt hypoplasia and a low crypt mitotic index. Electron microscopic examination revealed normal-appearing microvilli. This child may have had a congenital enteropathy due to an inborn crypt regeneration defect causing lifelong intolerance to enteral feedings.

Original languageEnglish
Pages (from-to)1194-1199
Number of pages6
JournalJournal of the Formosan Medical Association = Taiwan yi zhi
Issue number12
Publication statusPublished - Dec 1991
Externally publishedYes

ASJC Scopus subject areas

  • Medicine(all)


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