[A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality].

We report an 18-year-old female with facioscapulohumeral dystrophy (FSHD), who had sensorineural deafness, retinal vessel abnormality, mental retardation, and epilepsy. She had infantile spasms at 6 months of age. Muscle atrophy and weakness of facial muscles were first noticed at 3 years of age. From 10 years of age, she had rapidly progressive generalized muscle weakness especially of facial, neck and truncal muscles with marked lordosis. Although mental retardation is commonly complicated with FSHD, infantile spasms or epilepsy has never been reported. Not only mental retardation but epilepsy may be one of the central nervous system symptoms in a systemic disorder, FSHD.