A Case of Fukuyama Type Congenital Muscular Dystrophy

Lee, Young Eun; Kim, Min Hyea; Lee, Keun; Chung, Eun Chul; Koo, Hyea Soo

Case Report

Journal of the Korean Pediatric Society 1992;35(10):1463-1468.
Published online October 15, 1992.

A Case of Fukuyama Type Congenital Muscular Dystrophy

Young Eun Lee¹, Min Hyea Kim¹, Keun Lee¹, Eun Chul Chung², Hyea Soo Koo³

¹Department of Pediatrics, Wwha Women`s University College of Medicine, Seoul, Korea
²Department of Radiology, Wwha Women`s University College of Medicine, Seoul, Korea
³Department of Pathology, Wwha Women`s University College of Medicine, Seoul, Korea

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Abstract

Fukuyama type congenital muscular dystrophy is characterized by mental retardation, progressive muscle weakness and hypotonia, joint contracture and seizures in half of the reported cases. The usual CT abnormalities are dilated cerebral ventricles and Sylvian fissures and lucency of cortical white matter. The most consistent pathologic findings in the brain are polymicrogyria and pachygyria, caused by a disturbance of migration occurring between the fourth and fifth gestational month. We have experienced a case of FCMD in a 14 month old boy who had generalized delayed development, hypotonia, pachygyria, polymicrogyria and dystrophic abnormalities in the muscle biopsy. A brief review of literature was made.

Key Words: Fukuyama type congenital muscle dystrophy, Mental retardation, Polymicrogyria and pachygyria, Progressive muscular dystrophy