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J Korean Radiol Soc. 2000 Nov;43(5):629-633. English. Case Report. https://doi.org/10.3348/jkrs.2000.43.5.629
Yoo J , Kim Y , Koo H , Park KD .
Department of Diagnostic Radiology, College of Medicine, Ewha Womans University, Seoul, Korea.
Department of Anatomical Pathology, College of Medicine, Ewha Womans University, Seoul, Korea.
Department of Neurology, College of Medicine, Ewha Womans University, Seoul, Korea.
Abstract

Fukuyama congenital muscular dystrophy is a genetic disease and common in Japan. The typical clinical features are hypotonia with an early infantile onset and severe developmental delay. The diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or an increased serum creatine kinase levels. Involvement of the brain is characterized by abnormal cerebral cortical dysplasia, cerebellar dysplasia, and white matter changes. We encountered a case of Fukuyama congenital muscular dystrophy in which brain MRI findings were typical, and present this case together with a review of the literature.

Copyright © 2019. Korean Association of Medical Journal Editors.