title: Niemann-Pick disease type A presenting as unilateral tremors.
abstract: 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.
authors.affiliation: Division of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka. drknvraju@hotmail.com
authors.forename: K N
authors.initials: KN
authors.lastname: Vykuntaraju
authors.forename: Hemalatha
authors.initials: H
authors.lastname: Lokanatha
authors.lastname: Shivananda
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D052536:Niemann-Pick Disease, Type A / Q000175:diagnosis*; D010291:Paresis / Q000175:diagnosis; D014202:Tremor / Q000175:diagnosis*