Congenital muscular dystrophy with central nervous system involvement: case report.
A case of a mediterranean boy with congenital muscular dystrophy (CMD) and central nervous system (CNS) involvement with mild intellectual impairment and seizures is reported. Muscular dystrophy involved both skeletal and mimic muscles, and histological findings were consistent with a congenital dystrophy. EEG recordings showed generalized and localized paroxysmal activities. CT scan demonstrated low-density periventricular areas. Ophthalmoplegia was also observed. A literature review disclosed that in some western cases of CMD plus CNS involvement, cranial muscles other than mimic muscles may be involved.
D000293:Adolescent; D002493:Central Nervous System Diseases / Q000150:complications*; D004569:Electroencephalography; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital* / Q000473:pathology; D012640:Seizures / Q000150:complications / Q000503:physiopathology