TITLE:
Congenital Microvillous Atrophy, Report of Two Consecutive Siblings with Complete Histologic, Immunohistochemical and Detailed Electron Microscopic Studies, First Report from Iran
AUTHORS:
Fatemeh Elham Mahjoub, Seyedeh Nakisa Niknejad, Mahnaz Sadeghian, Afshin Abdirad, Mehri Najafi Sani, Issa Jahanzad, Elham Talachian
KEYWORDS:
Congenital Microvillous Atrophy, Pediatric, Diarrhea, Histopathological Findings, Electron Microsopy
JOURNAL NAME:
Open Journal of Pathology,
Vol.4 No.2,
April
24,
2014
ABSTRACT:
Introduction:
Microvillous inclusion disease (MVD) or microvillous atrophy disorder is a
congenital disorder of the small intestinal epithelial cells that presents with
persistent and severe diarrhea and it is characterized by enterocytes
abnormalities [1]
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. For these children, prognosis is generally poor due to metabolic acidosis
with poor compensation. To our experiment, this disease is very rare in Iran
and it is yet unreported, so we decided to report two consecutive siblings with
the same disease from Iran. Report of Cases: Two siblings were born to healthy
parents. Parents were cousins. Both siblings were hospitalized due to severe
diarrhea starting shortly after breast feeding. The frequency of diarrhea in
both cases was 10 to 17 times per day and their stools were loose and green.
Histological studies of both siblings revealed duodenal mucosa with complete
flattening of villi (total villous atrophy). Superficial lining cells showed
atrophy. Crypts showed no hyperplasia, however it showed distortion and difference
in size. By PAS staining and CD10 staining, a poorly developed brush border and
typical inclusions were seen in apical boarder of enterocytes. Electron
microscopy was performed for the second case and showed microvillous involution
and inclusions in the apical part of the epithelial cells. Discussion:
Microvillous congenital atrophy is a rare congenital disorder. Due to rareness
of congenital microvillous atrophy (CMA), it is crucial to distinguish it from
other diseases with persistent and severe diarrhea as soon as possible.