Congenital muscular dystrophy with cerebral involvement--report of a case of "occidental type cerebromuscular dystrophy"? |
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| Authors: | H Topaloglu K Yalaz G Kale M Ergin |
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| Affiliation: | Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey. |
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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. |
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