Niemann Pick Disease Type A in an Infant: A Case Report
Journal Title: Scholars Academic Journal of Biosciences - Year 2014, Vol 2, Issue 10
Abstract
Niemann-Pick Disease is an autosomal recessive disorder of infancy characterized by failure to thrive, hepatosplenomegaly and neurodegenerative changes. Inherited deficiency of acid sphingomyelinase activity leads to sphingomyelin and cholesterol storage within the lysosome. The clinical phenotype ranges from a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age (type A) to a later-onset non neurologic form (type B) that is compatible with survival into adulthood. We present a case of niemann-pack disease with galaxy of typical and atypical presentation. It’s a rare disease in India.
Authors and Affiliations
Shubhankar M, Sunil K. A. , Bikash R. P. , Shantanu K. M.
Keywords
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