PMID: 8615088Jan 1, 1995Paper

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

Acta Neuropathologica
Q H LeytenM G Smits

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.

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Citations

Sep 28, 1998·Biochimica Et Biophysica Acta·C A Felix
Jan 8, 1999·Biochimica Et Biophysica Acta·B LinderV Saha
Jun 7, 1997·Biochimica Et Biophysica Acta·L Wolff
Nov 9, 2000·Pediatric Neurology·M FukudaA Ohnishi
Jul 10, 1999·Neuromuscular Disorders : NMD·M C Belpaire-DethiouP Y Van den Bergh
Dec 16, 1998·Current Opinion in Neurology·R MartiniK V Toyka
Feb 3, 2004·Muscle & Nerve·Susana Quijano-RoyBrigitte Estournet
Oct 27, 1998·Clinical Genetics·J VajsarV Jay

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