First manifestation of Fabry's disease by psychotic episode associated with thalamic ischemic stroke - case report and review of literature

Abstract

Fabry's disease is a X-linked inherited multisystem disorder with deficient activity of the lysosomal enzyme α-galactosidase which neuropsychiatric manifestations comprise mainly small fiber neuropathy, cerebral microangiopathy, and depression. This report describes a patient in who psychotic symptoms were associated with a thalamic ischemic stroke and the first manifestation of Fabry's disease. Reviewing the current literature and the hitherto reported cases of psychosis in Fabry's disease, the inclusion of psychiatric exploration and screening in the routine examination of patients with Fabry's disease as well as a brain MRI on initial diagnosis of Fabry's disease should be considered.

Keywords: Fabry’s disease; microangiopathy; psychosis; sphingolipids; stroke.