title: Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: two sibling cases.
abstract: We report two heterosexual sibling cases of mild non-specific myopathy, with bilateral occipital cortical dysplasia and diffuse white matter hyperintensity on brain magnetic resonance imaging (MRI). The histological examination of the muscle in the elder sister revealed non-specific myopathic changes and no reductions of alpha-dystroglycan and laminin alpha2 expressions. The characteristic findings in the occipital lobe on brain MRI in both cases suggested cobblestone lissencephaly. Disrupted structure of the glia limitans and pial basement membrane complex, by a cause other than an alpha-dystroglycan and laminin alpha2 abnormality, may be the cause of the cortical dysplasia in the sibling cases.
authors.affiliation: Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan. oknsoknsokns@yahoo.co.jp
authors.forename: Tohru
authors.initials: T
authors.lastname: Okanishi
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Satoru
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Naoki
authors.initials: N
authors.lastname: Ando
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Hajime
authors.initials: H
authors.lastname: Togari
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
mesh_terms: D000293:Adolescent; D002648:Child; D049030:Dystroglycans / Q000378:metabolism; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007797:Laminin / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D054220:Malformations of Cortical Development / Q000473:pathology*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology*; D009778:Occipital Lobe / Q000473:pathology*; D035781:Siblings
chemical_list: D007797:Laminin; D049030:Dystroglycans