Cerebro-hepato-renal syndrome with parental consanguinity / S. VARIEND in Developmental Medicine & Child Neurology, 18-5 (October 1976)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 18-5 (October 1976) . - p.660-665 Titre : Cerebro-hepato-renal syndrome with parental consanguinity Type de document : Texte imprimé et/ou numérique Auteurs : S. VARIEND, Auteur ; W. R. TIMPERLEY, Auteur ; L. S. TAITZ, Auteur ; Susanna S. HILL, Auteur Année de publication : 1976 Article en page(s) : p.660-665 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this case would further support an autosomal recessive mode of inheritance. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=464 [article] Cerebro-hepato-renal syndrome with parental consanguinity [Texte imprimé et/ou numérique] / S. VARIEND, Auteur ; W. R. TIMPERLEY, Auteur ; L. S. TAITZ, Auteur ; Susanna S. HILL, Auteur . - 1976 . - p.660-665. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 18-5 (October 1976) . - p.660-665 Index. décimale : PER Périodiques Résumé : A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this case would further support an autosomal recessive mode of inheritance. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=464

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