てんかんを伴った歩行可能なWerdnig-Hoffmann病の1例
書誌事項
- タイトル別名
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- A case of Werdnig-Hoffmann disease capable of walking and associated with epilepsy
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説明
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.
収録刊行物
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- 脳と発達
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脳と発達 8 (4), 327-333, 1976
THE JAPANESE SOCIETY OF CHILD NEUROLOGY
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詳細情報 詳細情報について
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- CRID
- 1390001204554029440
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- NII論文ID
- 130004184243
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- ISSN
- 18847668
- 00290831
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- データソース種別
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- JaLC
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可