Microvillous atrophy: atypical presentations.

Abstract:

OBJECTIVES:Microvillous inclusion disease (MVID) is a cause of intractable diarrhea in infancy. In its classic form, the disease is characterized by a severe persistent watery diarrhea starting within the first days of life. Parenteral nutrition and small bowel transplantation are the only known treatments for the affected children. Histologically, periodic acid-Schiff (PAS) staining shows accumulation of periodic acid-Schiff-positive staining material along the apical pole of enterocytes, whereas transmission electron microscopy exhibits microvillus inclusion bodies within the cytoplasm of enterocytes with rarefied and shortened microvilli and secretory granules. The objective of this work was to explore clinical, morphological, and genetic findings in cases of MVID with unusual presentations. METHODS:Clinical, histological, and genetic findings are reported for 8 cases of MVID with atypical presentation. RESULTS:The diarrhea started after several months in 3 cases. It was usually less abundant and 3 patients were weaned off parenteral nutrition. None required intestinal transplantation. Three patients experienced malformations, dysmorphy, sensory disabilities, and severe mental retardation. One had a hydrocephaly. Three patients had a cholestasis with low γ-glutamyl transferase levels. Light microscopy showed histological abnormalities consistent with MVID in all of the cases, but the lesions were sometimes focal or delayed. Transmission electron microscopy retrieved some criteria of MVID in 4 patients. Finally, 6 patients were homozygotes or compound heterozygotes for MYO5B mutations. CONCLUSIONS:This study extends the spectrum of MVID to less severe clinical presentations.

authors

Perry A,Bensallah H,Martinez-Vinson C,Berrebi D,Arbeille B,Salomon J,Goulet O,Marinier E,Drunat S,Samson-Bouma ME,Gérard B,Hugot JP

doi

10.1097/MPG.0000000000000526

subject

Has Abstract

pub_date

2014-12-01 00:00:00

pages

779-85

issue

6

eissn

0277-2116

issn

1536-4801

journal_volume

59

pub_type

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