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Neuropediatrics 1990; 21(1): 53-54
DOI: 10.1055/s-2008-1071459
Case report

© Georg Thieme Verlag KG Stuttgart · New York

Congenital Muscular Dystrophy with Cerebral Involvement - Report of a Case of "Occidental Type Cerebromuscular Dystrophy"?

H.  Topaloglu1 , K.  Yalaz1 , G.  Kale2 , M.  Ergin1
  • 1Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey
  • 2Department of Pathology, Hacettepe University Children's Hospital, Ankara, Turkey
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Cerebral CT scan abnormalities have been seen to be afflicted with some cases of classic occidental type congenital muscular dystrophy (CMD) with normal or borderline intelligence without neurological abnormality. A case is presented with early hypotonia, joint contractures, muscle biopsy features of CMD, normal intelligence and diffuse white matter hyperlucency on CT scan. Every CMD case should be screened with cerebral CT and magnetic resonance (MRI) scans to reach more aspects of this heterogenous disorder.

Key words

Congenital muscular dystrophy - Normal mental development - White matter involvement

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