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Neuropediatrics 1986; 17(1): 53-56
DOI: 10.1055/s-2008-1052500
© Georg Thieme Verlag KG Stuttgart · New York

Muscle Involvement in a Case of Oculocutaneous Albinism

K.  Hamano1 , K.  Kawashima1 , M.  Joganoto1 , H.  Takita1 , I.  Nonaka2
  • 1The Division of Pediatrics, Institute of Clinical Medicine, The University of Tsukuba, Sakuramura, Ibaraki 305, Japan
  • 2The Division of Neuromuscular Research, National Center for Nervous, Mental and Muscular Disorders, Kodaira, Tokyo 187, Japan
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Publikationsdatum:
19. März 2008 (online)

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Abstract

A 2-month-old girl with tyrosinase-positive oculocutaneous albinism (OCA) and severe muscle hypotonia is reported. She was admitted to our hospital because of poor sucking and poor weight gain. On physical examination she was found to have generalized muscle weakness and multiple anomalies including deafness, mental retardation, cataracta and a high-arched palate. A muscle biopsy showed marked variation in fiber size with bimodal distribution, suggesting a neuropathic process. Since electromyography showed a myopathic pattern, CK was definitely elevated and muscle histologic examination did not show any denervation of the type found in Werdnig-Hoffmann disease, the present disorder was assumed to be caused either by hardly developed motoneurons or by abnormal interaction between muscles and nerves.

Key words

Oculocutaneous albinism - Floppy infant - Deafness - Mental retardation - Cataracta