关于一名患有先天性肌营养不良、脑积水、丹迪-沃克畸形和脑白质营养不良患者的报告。

Report on a patient with congenital muscular dystrophy, hydrocephalus, Dandy-Walker malformation and leukodystrophy.

作者信息

Di Rocco M, Leveratto L, Cama A, Bado M, Tortori Donati P, Andreussi L, Borrone C

机构信息

2nd Pediatric Service, G. Gaslini Institute, Genoa, Italy.

出版信息

Genet Couns. 1993;4(4):295-8.

PMID:8110418

Abstract

We report on a patient affected by congenital muscular dystrophy, severe psychomotor retardation, severe hypotonia, papillar hypoplasia and peculiar NMR pattern of hydrocephalus, Dandy-Walker malformation and leukodystrophy. These findings are intermediate between Walker-Walburg syndrome, Fukuyama disease and Occidental congenital muscular dystrophy. Our case focuses on the wide spectrum of congenital muscle dystrophy associated with central nervous system disease and on the difficulties of genetic counseling in these families.

摘要

我们报告了一名患有先天性肌营养不良、严重精神运动发育迟缓、严重肌张力减退、乳头发育不全以及脑积水、丹迪-沃克畸形和脑白质营养不良的特殊核磁共振成像模式的患者。这些发现介于沃克-瓦尔堡综合征、福山病和西方先天性肌营养不良之间。我们的病例聚焦于与中枢神经系统疾病相关的广泛先天性肌营养不良谱系以及这些家庭中遗传咨询的困难。