Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4141171 | Anales de Pediatría | 2015 | 6 Pages |
Abstract
All debuted in the first month of life, with a median age of three days (range, 3-30 days), and had secretory diarrhea dependent on parenteral nutrition, with fasting fecal volume of 150-200Â ml/kg/day. Light microscopy of duodenal biopsy samples showed varying degrees of villous atrophy without cryptic hyperplasia, accumulation of PAS positive material in the cytoplasm of enterocytes brush border, and anti-CD10 immunostaining was suggestive of intracytoplasmic inclusions. Diagnostic confirmation was performed with electron microscopy. Two of them had a genetic study, and showed mutations in MYO5B gene. Three died and three are alive; two of them with an intestinal transplantation and the third waiting for a multivisceral transplantation.
Keywords
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Authors
B. Fernández Caamaño, M.J. Quiles Blanco, L. Fernández Tomé, E. Burgos Lizáldez, J. SarrÃa Osés, M. Molina Arias, G. Prieto Bozano,