Niemann-Pick Disease Type A Presenting as Unilateral Tremors.
Indian Pediatr
;
2012 November; 49(11): 919-920
Artigo
em Inglês
| IMSEAR
| ID: sea-169532
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2012
Tipo de documento:
Artigo
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