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CASE REPORTS
JOURNAL ARTICLE
Niemann-Pick disease type A presenting as unilateral tremors.
Indian Pediatrics 2012 November
Niemann-Pick group of diseases are rare lysosomal storage disorders. The clinical phenotype is variable. We report a child who first time presented with tremors of tongue and tremors of one side of the body. On examination child had hemiparesis and hepatosplenomegaly. Bone marrow examination shows storage cells suggestive of Niemann-Pick cells and enzyme assay confirmed the diagnosis.
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