Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review

Abstract

Objective: Calcifications in basal ganglia could be an incidental finding up to 20% of asymptomatic patients undergoing computed tomography (CT) or magnetic resonance imaging (MRI) scan. The presence of neuropsychiatric symptomatology associated with basal ganglia calcifications identifies a clinical entity defined as Fahr's Disease. This term is used in presence of calcifications secondary to a specific cause, but the variability of etiology, pathogenesis, and clinical picture underlying this condition have raised the question of the real existence of a syndrome. Several classifications based on the etiology, the location of brain calcifications and the clinical presentation have been proposed.

Method: In the present study, we describe the case of a 52 years old man with a Bipolar I disorder diagnosis and a recent onset of behavioral disinhibition and alcohol misuse. The patient came to our center, specialized for bipolar disorder, as a consequence of a progressive worsening of the clinical picture associated to behavioral disturbances (sexual disinhibition, episodes of binge-eating, alcohol misuse), initial degrees of deterioration in cognitive function, peculiar psychotic symptoms and a resistance to various psychopharmacological treatment. The patient underwent neuro-psychologic evaluation, laboratory examinations and neuroimaging.

Results and conclusions: CT and MRI revealed basal ganglia calcification and, in presence of normal blood tests, a diagnosis of Fahr's syndrome was suggested. During the hospitalization, the patient showed a good clinical response to a psychopharmacological therapy constituted by two mood stabilizers (lithium carbonate and oxcarbazepine) and mild antipsychotics doses (quetiapine and aripiprazole). Finally, we performed a literature review on the complex and multifaceted neuropsychiatric clinical manifestations of Fahr's disease in order to provide useful elements in terms of etiology, clinical manifestation, diagnosis, and treatment.

Keywords: Fahr’s disease; Fahr’s syndrome; basal ganglia calcification; movement disorders; neuropsychiatric symptoms.