title: Congenital muscular dystrophy and severe central nervous system atrophy in two siblings.
abstract: Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two female siblings. The clinical profile was characterized by generalized hypotonia followed by spastic tetraplegia, contractures, polyneuropathy, lack of cognitive development and progressive microcephaly. There as no involvement of the eyes. Neuropathological examination of the brain of one sibling, who died at the age of 30 months, revealed subtotal loss of neurons in the cerebral and cerebellar cortex and in the ventral pons, and secondary loss of myelin in the cerebral and cerebellar subcortical white matter. Sural nerve biopsy in the other sibling, who had a similar neurological affection, showed a lack of large myelinated fibers.
authors.affiliation: Institute of Neurology, University Hospital Nijmegen, The Netherlands.
authors.forename: Q H
authors.initials: QH
authors.lastname: Leyten
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: F J
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: K
authors.initials: K
authors.lastname: Renkawek
authors.forename: W O
authors.initials: WO
authors.lastname: Renier
authors.forename: A A
authors.initials: AA
authors.lastname: Gabreëls-Festen
authors.forename: H J
authors.initials: HJ
authors.lastname: ter Laak
authors.forename: M G
authors.initials: MG
authors.lastname: Smits
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D002493:Central Nervous System Diseases / Q000151:congenital* / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000151:congenital* / Q000473:pathology*; D009413:Nerve Fibers, Myelinated / Q000502:physiology; D010525:Peripheral Nerves / Q000473:pathology; D013116:Spinal Cord / Q000473:pathology / Q000648:ultrastructure; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure