CRYPTOGENIC STROKES AND NEUROLOGICAL SYMPTOMS OF FABRY DISEASE

Maria Luisa Ruiz Franco ^1* Beatriz Velez Gómez ¹ Remedios Garófano López ² Carlos Gómez Navarro ³ Patricia Martínez Sánchez ¹ Antonio Arjona ¹

• ¹ Neurology, Torrecárdenas University Hospital, Almería, Spain
• ² Nephrology, Torrecárdenas University Hospital, Almería, Spain
• ³ Cardiology, Torrecárdenas University Hospital, Almería, Spain

Introduc on: Fabry disease (FD) is the second most common lysosomal storage disorder. It mainly affects young people. FD can manifest with neurological symptoms during his course, which can occur in both the central and peripheral nervous systems. Cerebrovascular involvement is common in FD and is considered an important cause of cryptogenic strokes. The objec ve of this study is to describe the neurological symptoms in pa ents with FD in general and, specifically, the frequency of associa on of this disease with cerebrovascular manifesta ons in our environment.Material end methods: Retrospec ve, observa onal, cross-sec onal study of all pa ents included in the FD registry of the Nephrology and Cardiology Departments of our center. A descrip ve analysis of demographic, neurological clinical, and neuroimaging variables was performed especially of the associa on with stroke or other cerebrovascular presenta ons before diagnosis.Results: Twenty-five pa ents were included, 14 (68%) women with a median age of 52 (RIC=24.5). The pa ents belonged to five families, each with a specific gene c GLA muta on. Neuroimaging was performed in 13 (52%), most of them without neurological symptoms, and with normal results. Only 2 (8%) had non-specific white ma er hyperintensi es. Among the 11 (44%) pa ents with neurological involvement, the most frequent symptom was pain in the extremi es (32%). Stroke was only found in one pa ent (4%), preceding FD diagnosis but of cardioembolic e ology.Discussion: FD is associated with several neurological symptoms. In our study, the most frequent neurological symptom was limb pain of variable characteris cs. On the other hand, the low frequency of stroke was important compared to what was expected.