1974 年 6 巻 1 号 p. 29-35
A severely handicapped, 5-year-old girl with hydrocephalus was reported. She was premature but delivery was uneventful. She was said hydrocephalic at 5 months of age. She can neither speak anyword nor achieve head control. Convulsive attacks began at one year ten months. Contractures of hip and knee joints have progressed gradually. At four years ten months, muscle biopsy was done because of elevated serum CPK level. Diagnosis was made' as congenital muscular dystrophy, Fukuyama type, on the basis of clinical findings and laboratory data including histological findings. Her elder sister is said to be suffered from cerebral palsy and DMP. We think that the correct diagnosis was delayed on the pr esent case because of severe and multiple handicaps in spite of positive family history and early floppiness. It is possible that there ocurred congenital muscular dystrophy and hydroCephalusi ncidentally. However, we would like to think some common etiologic factors or correlations between congenital muscular dystrophy and C. N. S. involvements.