Assessment And Rehabilitation Of Cognitive Deficit In A Niemann-Pick Type C Disease Patient

Niemann-Pick type C (NP-C) disease is a lipid storage disorder characterized by visceral (hepatosplenomegaly) and neurological symptoms: ataxia, dystonia, cognitive disorder, psychiatric disorder, and vertical supranuclear gaze palsy. Cognitive impairment is one of the core symptoms of NP-C disease, but there are few data about the cognitive rehabilitation treatment in NP-C patients. This case report aims to evaluate the effects of the cognitive rehabilitation treatment of a young woman affected by NP-C. Cognitive rehabilitation was performed with pc-based and paper and pencil exercises. We used a clinical approach that includes psychotherapy-based diagnostic and rehabilitation procedures and neuropsychological methods, using strategies to improve cognitive residual abilities. Our data showed an improvement of cognitive functions and quality of life after an intensive rehabilitation program.