RESUMO
Fabry's disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency. Although ischemic stroke is recognized as an important manifestation of Fabry's disease, hemorrhagic stroke is considered to be rare. Here, we report our recent clinical experience with three hemizygous male patients with Fabry's disease who developed cerebral hemorrhage. One patient had classic type Fabry's disease with p.Ala37Val mutation and others had cerebrovascular variant with p.Glu66Gln mutation. Degeneration of the cerebral small arteries secondary to deposition of glycosphingolipids and aging, in addition to hypertension and antiplatelet/anticoagulant agents, are considered to be contributing factors for hemorrhage. Fabry's disease is frequently associated with not only ischemic but also hemorrhagic stroke, especially in elderly patients.
Assuntos
Hemorragia Cerebral/complicações , Doença de Fabry/complicações , Idoso , Idoso de 80 Anos ou mais , Doença de Fabry/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , alfa-Galactosidase/genéticaRESUMO
A 63-year-old woman suddenly developed central retinal artery occlusion following a slight fever while being treated with methimazole (MMI) for hyperthyroidism. She was diagnosed to have anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) based on increased inflammatory reactions with positive myeloperoxidase-ANCA in the serum. Her visual acuity remained low despite immediate treatment with corticosteroids and cyclophosphamide after cessation of MMI, which may have played a role in the pathogenesis of AAV. Central retinal artery occlusion is a rare manifestation of AAV; however, it is important with regard to the possibility of serious sequelae.