title: Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children.
abstract: Congenital muscular dystrophy consists of Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, and occidental congenital muscular dystrophy, which is further divided into laminin-alpha2-positive and laminin-alpha2-negative subgroups. These forms of congenital muscular dystrophy are frequently associated with abnormal white-matter changes, whereas the Fukuyama form, Walker-Warburg syndrome, and muscle-eye-brain disease are also frequently found to have polymicrogyria. We now report two infants with complete laminin-alpha2-deficiency who have not only abnormal cerebral white-matter lesions, but also bioccipital polymicrogyria. There are significant similarities in the clinical and cerebral manifestations among the various types of congenital muscular dystrophy. The diagnosis of the Fukuyama form, laminin-alpha2-deficiency, Walker-Warburg syndrome, and muscle-eye-brain disease cannot always be established on radiological studies alone.
authors.affiliation: Department of Pediatrics, The Ohio State University, Columbus, USA.
authors.forename: C Y
authors.initials: CY
authors.lastname: Tsao
authors.forename: J R
authors.initials: JR
authors.lastname: Mendell
authors.forename: J
authors.initials: J
authors.lastname: Rusin
authors.forename: M
authors.initials: M
authors.lastname: Luquette
mesh_terms: D001921:Brain / Q000473:pathology*; D002540:Cerebral Cortex / Q000002:abnormalities*; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007223:Infant; D007797:Laminin / Q000172:deficiency*; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis*; D009778:Occipital Lobe / Q000002:abnormalities*
chemical_list: D007797:Laminin