[article] 
inDevelopmental Medicine & Child Neurology > 25-1 (February 1983) . - p.32-42

Titre :	Involvement of the central nervous system in congenital muscular dystrophies
Type de document :	Texte imprimé et/ou numérique
Auteurs :	Jos EGGER, Auteur ; Magda ERDOHAZI, Auteur ; Brian E. KENDALL, Auteur ; B. D. LAKE, Auteur ; J. WILSON, Auteur ; E. M. BRETT, Auteur
Année de publication :	1983
Article en page(s) :	p.32-42
Langues :	Anglais (eng)
Index. décimale :	PER Périodiques
Résumé :	Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of which brain biopsy in one showed astrocytic proliferation in the white matter. In the patient with severe muscle disease, autopsy showed widespread patchy demyelination in the white matter and developmental abnormalities in the cerebral and cerebellar cortex. These patients differ from the Japanese (Fukuyama) cases of CMD in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and hydrocephalus. Their unique nosology is discussed.
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[article] Involvement of the central nervous system in congenital muscular dystrophies [Texte imprimé et/ou numérique] / Jos EGGER, Auteur ; Magda ERDOHAZI, Auteur ; Brian E. KENDALL, Auteur ; B. D. LAKE, Auteur ; J. WILSON, Auteur ; E. M. BRETT, Auteur . - 1983 . - p.32-42.
Langues : Anglais (eng)
in Developmental Medicine & Child Neurology > 25-1 (February 1983) . - p.32-42

Index. décimale :	PER Périodiques
Résumé :	Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of which brain biopsy in one showed astrocytic proliferation in the white matter. In the patient with severe muscle disease, autopsy showed widespread patchy demyelination in the white matter and developmental abnormalities in the cerebral and cerebellar cortex. These patients differ from the Japanese (Fukuyama) cases of CMD in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and hydrocephalus. Their unique nosology is discussed.
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559