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Extensive Extrapulvinar Calcification in Fabry Disease.

Publication Type : Journal Article

Thematic Areas : Medical Sciences

Publisher : Ann Indian Acad Neurol .

Source : Ann Indian Acad Neurol, Volume 21, Issue 4, p.309-310 (2018)

Campus : Kochi

School : School of Medicine

Department : Paediatrics

Year : 2018

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.

Cite this Research Publication : J. Baishya, Kesav, P., Dr. Sheela Nampoothiri, Sreedharan, S. Erat, and Sylaja, P. N., “Extensive Extrapulvinar Calcification in Fabry Disease.”, Ann Indian Acad Neurol, vol. 21, no. 4, pp. 309-310, 2018.

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