title: Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy.
abstract: Cerebral white matter changes have been described in a significant number of individual patients with "pure" congenital muscular dystrophy without clinical evidence of central nervous system involvement. The cause for the imaging changes is unknown but it is possible that they are the result of abnormal expression in the brain of the gene also responsible for the muscular dystrophy. In this study magnetic resonance imaging of the brain was performed on seven sibling pairs with congenital muscular dystrophy and normal intelligence to establish whether imaging changes are consistent within families. Diagnosis of congenital muscular dystrophy was based on clinical and muscle biopsy findings. Children from two families had normal scans; the remaining five sibling pairs showed white matter changes and within each family the changes were virtually identical in severity and distribution. Our data indicate that the central nervous system changes are consistent within individual families, suggesting that they probably relate to the mutation in the congenital muscular dystrophy genes involved in the respective families.
authors.affiliation: Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, U.K.
authors.forename: J
authors.initials: J
authors.lastname: Philpot
authors.forename: H
authors.initials: H
authors.lastname: Topaloglu
authors.forename: J
authors.initials: J
authors.lastname: Pennock
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000097:blood / Q000473:pathology*
chemical_list: D003402:Creatine Kinase