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  • 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)].
    Author: Schmidt H, Rott HD, Neuhäuser G, Neumann W.
    Journal: Klin Padiatr; 1978 Nov; 190(6):580-5. PubMed ID: 568685.
    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.
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