A Case of Fukuyama Congenital Muscular Dystrophy

J Korean Neurol Assoc > Volume 10(3); 1992 > Article

Journal of the Korean Neurological Association 1992;10(3): 388-394.

Fukuyama형 선천성 근 이영양증 1례

허준, 김기중,고태성,김동욱,황세희,황용승,김인원,지제근

서울대학교 소아과, 방사선과, 병리학.

A Case of Fukuyama Congenital Muscular Dystrophy

June-Huh, M.D., Ki-Joong Kim, M.D., Tae-Sung Ko, M.D., Dong-Wook Kim, M.D., Se-Hee Hwang, M.D., Yong-Seung Hwang, M.D., In-One Kim, M.D., Je-Geun Chi, M.D.

Department of Pediatrics, Radiology and Pathology, College of Medicine, Seoul National University

Abstract

Fukuyama congenital muscular dystrophy, first described by Fukuyama et al. In 1960, is an autosomal recessively inherited muscular dystrophy associated with severe mental retardation. We experienced a case of Fukuyama congenital muscular dystrophy in a 4 year and 11 month old girl, who showed hypotonia at birth, muscle weakness, contractures of both ankle joints, severe mental retardation, elevated muscle enzymes, myopathic EMG findings, dystrophic features on muscle biopsy, and agyria-pachygyria complex with heterotopia of gray matter on brain MRI. To our knowledge, Fukuyama congenital musclar dystrophy has not yet been reported in Korea.