Evaluación de las neuroimágenes y descripción del compromiso multisistémico en una familia con enfermedad de Fabry

Fabry disease is a lysosomal storage disease caused by an inborn deficiency of alpha-galactosidase A, which results in progressive accumulation of glycolipids in different cells and tissues. Neuropathic pain is usually the first symptom in classical variant. Chronic kidney disease and heart involvement associated with stroke are the main causes of death in Fabry patients. We present the complete assessment of clinical sign and symptoms and the neuroradiological evaluation in nine patients from a single family with Fabry disease. All cases showed neuropathic pain and 33% presented silent ischemic lesions in brain imaging, as well as also other case with multiple inflammatory findings. Fabry disease should be included by neurologists as part of screening in young patients with small fiber neuropathy and cryptogenic stroke due the chance of specific enzyme replacement therapy that showed better outcomes in early stages of the disease.