MR Imaging of Fukuyama Congenital Muscular Dystrophy: A Case Report.
10.3348/jkrs.2000.43.5.629
- Author:
Jeonghyun YOO
1
;
Yookyung KIM
;
Haesoo KOO
;
Ki Deuk PARK
Author Information
1. Department of Diagnostic Radiology, College of Medicine, Ewha Womans University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Infants, newborn, central nervous system;
Infants, newborn, skeletal system;
Brain, MR
- MeSH:
Biopsy;
Brain;
Creatine Kinase;
Diagnosis;
Japan;
Magnetic Resonance Imaging*;
Malformations of Cortical Development;
Muscle Hypotonia;
Muscular Dystrophies;
Walker-Warburg Syndrome*
- From:Journal of the Korean Radiological Society
2000;43(5):629-633
- CountryRepublic 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.
