Congenital muscular dystrophy and severe central nervous system atrophy in two siblings

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 s...

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Bibliographic Details
Published in:Acta neuropathologica 1995-12, Vol.90 (6), p.650-656
Main Authors: LEYTEN, Q. H, BARTH, P. G, GABREËLS, F. J. M, RENKAWEK, K, RENIER, W. O, GABREËLS-FESTEN, A. A. W. M, TER LAAK, H. J, SMITS, M. G
Format: Article
Language:English
Subjects:
Atrophy
Biological and medical sciences
Brain - pathology
Brain - ultrastructure
Central Nervous System Diseases - congenital
Central Nervous System Diseases - pathology
Diseases of striated muscles. Neuromuscular diseases
Fatal Outcome
Female
Humans
Infant
Medical sciences
Muscle, Skeletal - pathology
Muscle, Skeletal - ultrastructure
Muscular Dystrophies - congenital
Muscular Dystrophies - pathology
Nerve Fibers, Myelinated - physiology
Neurology
Peripheral Nerves - pathology
Spinal Cord - pathology
Spinal Cord - ultrastructure
Sural Nerve - pathology
Sural Nerve - ultrastructure
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Summary: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.
ISSN:0001-6322
1432-0533
DOI:10.1007/BF00318580