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