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.
Key words: Cherry red spot, Niemann-Pick disease type A, Unilateral tremors. Niemann-Pick disease is a heterogeneous group of autosomal recessive lysosomal lipid storage disorders, characterized by hepatosplenomegaly and sphingomyelin storage in reticuloendothelial and parenchymal tissues, with or without neurological involvement [1]. Case Report We report a 9-month-old girl born to a second degree consanguineously married couple at term by normal delivery. She presented with tremors of the tongue and…
