Nathavitharana K A, Green N J, Raafat F, Booth I W
Institute of Child Health, University of Birmingham.
Arch Dis Child. 1994 Jul;71(1):71-3. doi: 10.1136/adc.71.1.71.
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.
一个来自巴基斯坦近亲家庭的两个男性兄弟姐妹在出生后24小时和48小时出现致命性腹泻。病例1在出生后第6天通过小肠活检标本显示出特征性的光镜和电镜特征，确诊为微绒毛包涵体病（MVID）。病例2通过检查10年前的阑尾存档组织，也回顾性地证实了MVID的典型异常。这些病例符合MVID的常染色体隐性遗传。通过检查适当的存档材料可以对MVID进行回顾性诊断，这可能有助于遗传咨询和未来的研究。
