NEUROPSYCHOLOGICAL PRESENTATION OF WILSON’S DISEASE: DIAGNOSTIC AND COGNITIVE RECOVERY CHALLENGES FOLLOWING DELAYED DIAGNOSIS

Abstract

Wilson's disease (WD) is a rare but managable genetic disorder of copper metabolism often overlooked or misdiagnosed due to its diverse clinical presentation. This case report describes the clinical course of a young adult patient whose initial symptoms were diverse, leading to a delay in establishing the accurate diagnosis of WD. Psychiatric symptoms such as mood changes and impulsivity appeared alongside neurological signs, including tremor, micrographia, speech disturbances, and dystonia. Due to the initial psychiatric interpretation of the symptoms, essential neurological and metabolic examinations were performed with a two-year delay. Following diagnosis and copper chelation therapy, the patient underwent a two-month structured cognitive rehabilitation program. Neuropsychological evaluations were conducted pre- and post-intervention using a comprehensive battery. Post-rehabilitation results showed a significant recovery in verbal memory, though executive deficits persisted. This paper highlights the importance of early recognition of neuropsychiatric symptoms of WD and the necessity of an interdisciplinary approach in the diagnosis of rare conditions that may initially present with nonspecific psychiatric and neurological symptoms. The analysis of the disease progression and the subsequent neurological and cognitive rehabilitation emphasizes the importance of timely treatment in preventing irreversible consequences.