Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration a clinical case report

Purpose of the study: Pantothenate Kinase-associated Neurodegeneration (PKAN) is a form of Neurodegeneration with brain iron accumulation (NBIA) due to gene mutations. Classical phenotype showed progressive neurological symptoms associated to a characteristic pattern of basal ganglia iron deposits. The atypical case, with adult-onset manifestation, could have neuropsychiatric symptoms with behavioral deficits. We described an adult-onset case of Pantothenate Kinase-associated Neurodegeneration. Materials and methods: The patient underwent neuropsychological and psychiatric evaluation and Magnetic Resonance Imaging, respectively for cognitive and behavioral assessment and to confirm the characteristic findings of this syndrome. Results: The patient showed atypical phenotype of Pantothenate Kinase-associated Neurodegeneration, characterized by language deficits, dixesecutive, and psychiatric manifestations, such as obsessive ideation, impulsivity, and disinhibition. Conclusions: This description could be helpful to a more correct diagnosis and clinical management.