Congenital muscular dystrophy and severe central nervous system atrophy in two siblings |
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| Authors: | Q. H. Leyten P. G. Barth F. J. M. Gabreëls K. Renkawek W. O. Renier A. A. W. M. Gabreëls-Festen H. J. ter Laak M. G. Smits |
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| Affiliation: | (1) Institute of Neurology, University Hospital Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands;(2) Department of Pediatric Neurology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;(3) Department of Neurology, Hospital Gelderse Vallei, Stationsweg 86, 6711 PV Ede, The Netherlands |
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| 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 was 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.This investigation is part of the research program  Disorders of the Neuromuscular System of the University of Nijmegen |
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| Keywords: | Congenital muscular dystrophy Cerebral atrophy Myelin deficiency Multisystem degeneration Sural nerve |
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