J Korean Radiol Soc.  2000 Nov;43(5):629-633. 10.3348/jkrs.2000.43.5.629.

MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report

• Yoo J
• Kim Y
• Koo H
• Park KD

• KMID: 2200638
• DOI: http://doi.org/10.3348/jkrs.2000.43.5.629

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.

Keyword

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

MeSH Terms

Biopsy
Brain
Creatine Kinase
Diagnosis
Japan
Magnetic Resonance Imaging*
Malformations of Cortical Development
Muscle Hypotonia
Muscular Dystrophies
Walker-Warburg Syndrome*
Creatine Kinase