Niemann-Pick type C disease: Case report and review of the literature.

Abstract excerpt

Niemann-Pick type C (NPC) disease is an autosomal recessive disease of lysosomal lipid storage disorder caused by mutations in either the NPC1 (95%) or the NPC2 (5%) gene. We report a case of a 23-year-old woman who initially showed ataxia, altered gait and tremor. She subsequently developed cognitive decline and psychiatric symptoms. She had asphyxia at birth and was diagnosed as hypoxic-ischemic encephalopathy...

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