title: Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type.
abstract: Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.
authors.affiliation: Institute of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: Q H
authors.initials: QH
authors.lastname: Leyten
authors.forename: K
authors.initials: K
authors.lastname: Renkawek
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: C M
authors.initials: CM
authors.lastname: Mooy
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
authors.forename: R A
authors.initials: RA
authors.lastname: Mullaart
mesh_terms: D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology*; D005123:Eye / Q000254:growth & development / Q000473:pathology; D005128:Eye Diseases / Q000473:pathology*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000473:pathology*; D009801:Oculomotor Muscles / Q000473:pathology*