MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report

a genetic disease with an autosomal recessive mode of inheritance (1, 2). It is most common in Japanese patients and is the second most common form of muscular dystrophy in Japan, after Duchenne muscular dystrophy (2). FCMD causes severe mental retardation, seizures, muscular weakness soon after birth, and pathologic muscular changes that are consistent with muscular dystrophy. The typical clinical features are hypotonia with early infantile onset, and severe developmental delay (1), and diagnosis is based on pathologic evidence of muscular dystrophy revealed by biopsy or increased serum creatine kinase levels. Since the neurologic assessment of young infants is not always straightforward, however, definite diagnosis is occasionally difficult, and in this respect, MRI may be helpful; the modality readily demonstrates various brain malformations occurring in FCMD, and may therefore facilitate diagnosis(3-6). The findings of MRI and neuropathology have four known categories: cerebral cortical malformations, cerebellar malformations, white matter changes, and miscellaneous abnormalities (7). We present the MRI findings of a typical case of FCMD.