てんかんを伴った歩行可能なWerdnig-Hoffmann病の1例

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  • A case of Werdnig-Hoffmann disease capable of walking and associated with epilepsy

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A case of 5-year-old girl, who began to walk at 11 months of age, with atypical Werdnig-Hoffmann disease was reported.<BR>Astasia-like and generalized clonic seizures began at 3 years. At 4 years, she had difficulty going up and down stairs.<BR>At 5 years and 8 months, Gowers' sign appeared.<BR>The clinical and laboratory findings, such as generalized muscular atrophy, absence of tendon jerks, typical neurogenic pattern in EMG record and normal level of serum CPK, suggested that the patient's condition might belong to infantile spinal muscular atrophy.<BR>Biopsy of left triceps brachii and quadriceps femoris was performed. Histology showed three large groups of muscle fibers; hypertrophic, intermediate, and atrophic.

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  • 脳と発達

    脳と発達 8 (4), 327-333, 1976

    THE JAPANESE SOCIETY OF CHILD NEUROLOGY

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