title: Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy.
abstract: We report the brain magnetic resonance imaging (MRI) findings in 23 patients with merosin-positive congenital muscular dystrophy (CMD). Twelve patients had normal scans. Eight other children had essentially normal scans but showed mild non-specific periventricular white matter changes. Three children had structural abnormalities on imaging. The first patient, a 15-month-old boy with hypotonia, muscle weakness and global development delay, had moderate cerebellar atrophy and mild dilatation of the lateral ventricles. The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months. The third patient, a 15-year-old ambulant male with normal intelligence and complex partial seizures, had polymicrogyria of both temporoparietal lobes on brain MRI. The clinical features and motor ability of children with merosin-positive CMD are variable, although usually milder than merosin-deficient CMD. Our findings confirm that central nervous system involvement can occur in some merosin-positive cases. We suggest performing brain MRI in children with merosin-positive CMD, as this may help in our understanding of this very heterogeneous disease.
authors.affiliation: Dubowitz Neuromuscular Centre, Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
authors.forename: J
authors.initials: J
authors.lastname: Philpot
authors.forename: J
authors.initials: J
authors.lastname: Pennock
authors.forename: F
authors.initials: F
authors.lastname: Cowan
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
authors.forename: G
authors.initials: G
authors.lastname: Bydder
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D001284:Atrophy; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007797:Laminin / Q000378:metabolism*; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000145:classification / Q000150:complications* / Q000151:congenital / Q000175:diagnosis* / Q000473:pathology; D012494:Sampling Studies; D013577:Syndrome
chemical_list: D007797:Laminin