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Neuropediatrics 1987; 18(2): 91-95
DOI: 10.1055/s-2008-1052460
© Georg Thieme Verlag KG Stuttgart · New York

Multiple System Atrophy with Retinal Degeneration in a Young Child

M.  Nishimura1 , T.  Mito1 , S.  Takashima1 , H.  Kawahara2 , J.  Tanaka3 , H.  Nakamura3 , T.  Kisa4
  • 1Division of Child Neurology, Institute of Neurological Sciences, Tottori University School of Medicine, Yonago 683, Japan
  • 2Department of Pediatrics, Matsue Red Cross Hospital, Matsue, Japan
  • 3Division of Child Neuropathology, Institute of Neurological Sciences, Tottori University School of Medicine, Yonago 683, Japan
  • 4Department of Pediatrics, Shimane Central Hospital, Izumo, Japan
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Publication History

Publication Date:
16 May 2008 (online)

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Abstract

A 4-year-old girl with multiple system degeneration and retinal degeneration was presented. There was onset of an ataxic gait at two years and rapid progression of retinal degeneration, myoclonus and cranial nerve palsy. Neuropathological examination revealed severe degeneration of the cerebellar cortex and the pathways of auditory and deep sensation, as well as degeneration of the cerebellar efferent fibers, the striatonigral system, the cerebellar afferent fiber system and lower motor neurons.

Cases of young children with spinocerebellar degeneration have been reported in several families of olivopontocerebellar atrophy (OPCA), but degenerative changes in our case were more widespread than those in OPCA cases. The multiple system lesions in the central nervous system and retina of this child are different from those of any other previously reported cases.

Key words

Ataxia - Multiple system atrophy - Myoclonus - Retinal degeneration

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