Annals of Indian Academy of Neurology
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Year : 1999  |  Volume : 2  |  Issue : 2  |  Page : 107-109

Marinesco-Sjogren Syndrome With Sensori Neural Deafness And Primary Optic Atrophy



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M A Aleem


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Marinesco-Sjogren syndrome (MSS) is a rare genetically determined disorder characterised by bilateral cataract, cerebellar ataxia and mental deficiency. The pattern of inheritance is autosomal recessive but it may be variable. In MSS association of hyperlactacidaemia and hypopyruvicaemia, a defective oxidative phosphorylation in mitochondria, is supposed. We are reporting three patients of MSS along with sensorineural deafness and optic atrophy from a single Indian family.


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