title: [Spongious cerebral dystrophy at an infant age (Canavan-Bogaert-Bertrand types) in three siblings of a non-Jewish family in upper Franconia (author's transl)].
abstract: A daughter and two sons of possibly consangineous parents died after motor and mental deterioration at 18, 16 and 15 months of age. Spongy degeneration of the CNS (Canavan-van-Bogaert-Bertrand type) was diagnosed on neuropathological examinationtion; the histological findings were almost identical in the patients. Own clinical experiences are compared with reports from the literature; data important in clinical and differential diagnosis are reviewed. Pathogenetical and etiological aspects are discussed; autosomal recessive inheritance has to be considered in genetic counselling.
mesh_terms: D001344:Autopsy; D003241:Consanguinity; D003711:Demyelinating Diseases / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D013577:Syndrome
vernacular_title: Spongiöse Hirndystrophie im frühen Kindesalter (Typ Canavanvan-Bogaert-Bertrand): Erkrankung von 3 Geschwistern einer nichtjüdischen Familie aus Oberfranken.