Publications

Abstract : A 36-year-old male with no vascular risk factors presented for the evaluation of recurrent posterior circulation strokes. He had a strong family history of acroparaesthesia. On physical examination, he had extensive angiokeratoma over the trunk. His blood alpha-galactosidase activity was reduced (0.1 nmol/h/mg), and genetic study confirmed the diagnosis of Fabry disease (FD). His blood metabolic profile was normal. His magnetic resonance imaging brain showed T1 hyperintensity in basal ganglia, pons, and pulvinar region of the thalamus which were hyperdense on computed tomography (CT) Brain, suggestive of calcification. Susceptibility-weighted images showed signal loss in the same areas, with diffusion-weighted imaging revealing an acute infarct in the left lateral medulla. Invasive cerebral angiogram showed normal vertebrobasilar vasculature. Although pulvinar calcification is a pathognomonic sign in FD, extrapulvinar pontine calcification, has not been described before.