Raafat F, Green N J, Nathavitharana K A, Booth I W
Department of Histopathology, Children's Hospital, Ladywood Middleway, Birmingham, UK.
Hum Pathol. 1994 Nov;25(11):1243-8. doi: 10.1016/0046-8177(94)90043-4.
We report three patients with intestinal microvillous dystrophy, two of whom were siblings. The relatively delayed clinical presentation and the lack of classical microvillous inclusions distinguish these cases from the previously described microvillous inclusion disease (MVID). There appears to be an underrecognized spectrum of microvillous disorders leading to fatal intractable secretory diarrhea in infants. In our three cases the diagnosis was suggested by periodic acid-Schiff (PAS) and alkaline phosphatase preparations of a jejunal biopsy specimen showing thinning or absence of brush border staining, which was confirmed by electron microscopy. The latter showed poorly developed and haphazardly arranged microvilli with intracytoplasmic vesicular bodies but no true inclusions. As in MVID, the prognosis of intestinal microvillous dystrophy is poor. The occurrence of the disease in two siblings of consanguinous parents suggests an autosomal recessive inheritance, and like MVID, genetic counselling of affected families is essential.
我们报告了3例患有肠道微绒毛营养不良的患者，其中2例为兄弟姐妹。相对延迟的临床表现以及缺乏典型的微绒毛包涵体，使得这些病例与先前描述的微绒毛包涵体病（MVID）有所区别。似乎存在一种未被充分认识的微绒毛疾病谱，可导致婴儿致命的顽固性分泌性腹泻。在我们的3例病例中，空肠活检标本的过碘酸希夫（PAS）染色和碱性磷酸酶制剂显示刷状缘染色变薄或缺失，提示了诊断，电子显微镜检查证实了这一点。后者显示微绒毛发育不良且排列紊乱，伴有胞浆内囊泡体，但无真正的包涵体。与MVID一样，肠道微绒毛营养不良的预后很差。该疾病在近亲结婚父母的两个兄弟姐妹中出现，提示为常染色体隐性遗传，与MVID一样，对受影响家庭进行遗传咨询至关重要。
