Neurodegeneration Associated with Pantothenate Kinase. Case reportNeurodegeneration Associated with Pantothenate Kinase. Case report

Abstract

Neurodegeneration with Brain Iron Accumulation (NBIA) belongs to a group of disorders characterized by the predominant involvement of the basal ganglia. Patients may present psychiatric symptoms, extrapyramidal signs and cognitive decline. Few cases of this disease have been reported in Brazil. We present a typical NBIA case. This case has the classical signs and symptoms of NBIA in a woman with advanced/end-stage disease, in addition to the presence of cerebral atrophy, which is not a common finding.