Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00000041.xml
Neuropediatrics 1994; 25(1): 48-50
DOI: 10.1055/s-2008-1071583
DOI: 10.1055/s-2008-1071583
Short communication
© Georg Thieme Verlag KG Stuttgart · New York
Congenital Muscular Dystrophy with Distinct CNS Involvement
Further Information
Publication History
Publication Date:
15 May 2008 (online)
Abstract
The sixth child of non-consanguineous parents, who had suffered from severe arthrogryposis syndrome and microcephalia, died at the age of two days. Post-mortem study revealed unique morphological brain anomalies characterized by severe cerebral and cerebellar atrophy, focal cerebral mycrogiria and ectopic masses of immature cells in the periventricular region and cerebral white matter; pachygyria was absent. In addition, muscular examination was consistent with severe muscular dystrophy. These findings suggest that new forms of combined cerebral abnormalities and muscular dystrophy of congenital origin can be recognized in isolated cases.
Key words
Congenital muscular dystrophy - CNS malformation - Arthrogryposis