Journal of the Korean Radiological Society  2000;43(5):629-633

doi:10.3348/jkrs.2000.43.5.629

MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report.

Jeonghyun YOO 1 ; Yookyung KIM ; Haesoo KOO ; Ki Deuk PARK

Affiliations

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Keywords

Infants, newborn, central nervous system; Infants, newborn, skeletal system; Brain, MR

Country

Republic of Korea

Language

English

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.