艾卡尔迪-古铁雷斯综合征：两例同胞患者的可变临床表现

The Aircardi-Goutières syndrome: variable clinical expression in two siblings.

作者信息

Verrips A, Hiel J A, Gabreëls F J, Wesseling P, Rotteveel J J

机构信息

Department of Pediatric Neurology, University Hospital Nijmegen, The Netherlands.

出版信息

Pediatr Neurol. 1997 May;16(4):323-5. doi: 10.1016/s0887-8994(97)00028-3.

DOI:10.1016/s0887-8994(97)00028-3

PMID:9258967

Abstract

We report 2 siblings with the Aicardi-Goutières syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits. To our knowledge, such a striking difference in clinical expression has not been reported previously.

摘要

我们报告了2例患有艾卡迪-古铁雷斯综合征（脑病、基底节钙化和持续性脑脊液细胞增多）的同胞。年长的同胞严重智力发育迟缓；他的弟弟仅有轻度、进展缓慢的神经功能缺损。据我们所知，此前尚未报道过如此显著的临床表现差异。