Inborn Disorders of Sphingolipid Metabolism. Proceedings of by Stanley M. Aronson

By Stanley M. Aronson

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Extra resources for Inborn Disorders of Sphingolipid Metabolism. Proceedings of the Third International Symposium on the Cerebral Sphingolipidoses

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Neuropath, and Exp. Neurol. 22, 67-80. , RAYNER, S. and SOURANDER, P. (1965) Visceral involvement in juvenile amaurotic idiocy. Acta Neuropath. 4, 421-4. LAZARUS, S. , WALLACE, B. J. and VOLK, B. W. (1962) Neuronal enzyme alterations in Tay-Sachs disease. Am. J. Path. 41, 579-87. LOKEN, C. and CYVIN, K. (1954) A case of clinical juvenile amaurotic idiocy with the histological picture of Alzheimers disease. / . Neurol. Neurosurg. Psych. 17, 211-15. MARINESCO, G. (1927) Nouvelles recherches sur la forme de Spielmeyer-Vogt de l'idiotie amaurotique et son mecanisme biochimique.

After splitting of dense lines two pale lines appear. In some places pale and dense lines are situated side by side, thus myelin sheath-like structures have developed. In the sinus of the kidney-like body a small "circular body". In the centre of ZK are remnants of small units (LB). 17,400:1 (482, No. 5416). Our explanations of juvenile amaurotic idiocy indicate that the different forms of amaurotic idiocy are related diseases, but are morphologically and genetically different. ACKNOWLEDGMENT The authors are grateful to Miss W.

H. Parnitzke, who made available to us the clinical data. NI 61/60* The patient, a girl aged 4 years, was the youngest of 7 children, the 6 older ones being healthy. Four children of the father's sister had become ill in the second year of life and died at the age of 2-4 years. The girl was retarded in development already in the first year of life: she never could stand and walk, spoke a few words and did not reach any understanding of speech. The data of clinical history and examinations available are incomplete; there are no reports on epileptic or myoclonic manifestations.

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