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

Neurocase. 2021 Dec;27(6):462-466. doi: 10.1080/13554794.2021.2005805.

PMID: 34806551

Thorleif Etgen

Highlights: 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.

Abstract

Background: Small fiber neuropathy, cerebral microangiopathy, and depression are the predominant neuropsychiatric manifestations of Fabry's disease, an X-linked genetic multisystem condition caused by a lack of activity of the lysosomal enzyme -galactosidase.

Objective: This case study discusses a patient who developed psychotic symptoms as a result of a thalamic ischemic stroke and the onset of Fabry's disease.

Conclusion: Psychiatric investigation and screening should be included in the normal assessment of patients with Fabry's disease, as well as a brain MRI on initial diagnosis of Fabry's disease, according to the current literature and previously documented cases of psychosis in Fabry's disease.

Keywords: Fabry disease, microangiopathy, psychosis, sphingolipids, stroke