Perfil funcional, excitabilidade cortical e calcificação palidal na neurodegeneração associada à pantotenato quinase clássica com rápida progressão: um relato de caso

Abstract

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a rare neurodegenerative disorder characterized by progressive motor dysfunction, distinctive neuroimaging features, and behavioral changes. Despite numerous case studies, the altered brain structure and function and their implications for the functional profile and behavior of affected individuals remain poorly understood. This case report describes a classic PKAN presentation with early, rapid progression of motor and cognitive dysfunction. Functional assessment highlighted severe disabilities.Magnetic resonance imaging (MRI) revealed iron deposition and gliosis in the globus pallidus, displaying the characteristic 'eye-of-the-tiger' sign. Electroencephalogram(EEG) analysis showed hyperexcitability in the primary motor and frontal cortices of the right hemisphere and reduced mean amplitude in both temporal cortices, underscoring the asymmetric nature of motor symptoms in PKAN. The need for comprehensive support in mobility, self-care, and communication underscores the necessity of a multidisciplinary approach. The functional profile showed complete impairments in cognition, mental function, joint mobility, strength, and muscle tone, along with significant difficulty in performing daily living activities and substantial restriction of social participation. These findings highlight the importance of comprehensively understanding the functional profile of PKAN to develop targeted healthcare programs aimed at improving patient outcomes and quality of life.