Article Text

PDF

Siblings with microvillous inclusion disease.
  1. K A Nathavitharana,
  2. N J Green,
  3. F Raafat,
  4. I W Booth
  1. Institute of Child Health, University of Birmingham.

    Abstract

    Two male siblings from a consanguinous Pakistani family had fatal diarrhoea with an onset at 24 and 48 hours after birth. A diagnosis of microvillous inclusion disease (MVID) was established by showing characteristic light and electron microscopic features in the small intestinal biopsy specimen on day 6 of life in case 1. The typical abnormalities of MVID were also demonstrated retrospectively in case 2 by examining archival appendicular tissue from 10 years previously. These cases are consistent with an autosomal recessive inheritance for MVID. Retrospective diagnosis of MVID is possible by examining appropriate archival material, which may aid genetic counselling and future research.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.