Management of a Thrombus in a Dolichoectatic Basilar Artery Secondary to Fabry Disease

Not much is known about the acute and secondary management of individuals with Fabry disease and IADE. [...]we highlight a unique case of a 51-year-old male with a known pathogenic c.511G>C (p. Gly171Arg) mutation in the galactosidase alpha (GLA) gene, not on enzyme replacement therapy and with comorbid hypertension, concentric left ventricular hypertrophy, chronic kidney disease and prior right thalamocapsular stroke, who presented to hospital with acute right-sided weakness and anarthria with a National Institutes of Health Stroke Scale (NIHSS) of 14. Previous studies have demonstrated that the presence of IADE is associated with lacunar strokes, white matter disease and recurrent ischemic strokes4. [...]males with Fabry disease, increased age and comorbid hypertension, were more likely to have IADE and acute ischemic infarcts occur in the vertebrobasilar territory5. [...]to our knowledge, our case is the first to demonstrate the use of IV tPA in the setting of a non-occlusive thrombus in a dolichoectatic basilar artery.