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A case of Werdnig-Hoffmann disease capable of walking and associated with epilepsy
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- MIIKE Teruhisa
- Department of Pediatrics, Faculty of Medicine, Kumamoto University
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- UENO Tomeo
- Department of Pediatrics, Faculty of Medicine, Kumamoto University
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- MIYOSHINO Sanji
- Department of Pediatrics
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- MISHIMA Kazuhiro
- Department of Pediatrics
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- HIGASHI Akimasa
- Department of Pediatrics, Faculty of Medicine, Kumamoto University
Bibliographic Information
- Other Title
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- てんかんを伴った歩行可能なWerdnig-Hoffmann病の1例
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Description
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.
Journal
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- NO TO HATATSU
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NO TO HATATSU 8 (4), 327-333, 1976
THE JAPANESE SOCIETY OF CHILD NEUROLOGY
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Keywords
Details 詳細情報について
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- CRID
- 1390001204554029440
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- NII Article ID
- 130004184243
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- ISSN
- 18847668
- 00290831
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- Data Source
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- JaLC
- CiNii Articles
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- Abstract License Flag
- Disallowed