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Siblings with microvillous inclusion disease.

Archives of Disease in Childhood, 1 July 1994, Vol.71(1), p.71 [Peer Reviewed Journal]

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  • Title:
    Siblings with microvillous inclusion disease.
  • Author: Nathavitharana, K A ; Green, N J ; Raafat, F ; Booth, I W
  • Found In: Archives of Disease in Childhood, 1 July 1994, Vol.71(1), p.71 [Peer Reviewed Journal]
  • Subjects: Medicine
  • Publication Details: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
  • Language: English
  • Description: 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.
  • Identifier: ISSN: 0003-9888 ; E-ISSN: 1468-2044 ; DOI: 10.1136/adc.71.1.71 ; PMID: 8067796

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