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Year : 2018  |  Volume : 21  |  Issue : 4  |  Page : 309-310

Extensive extrapulvinar calcification in fabry disease

1 Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India
2 Department of Paediatric Genetics, Amrita Institute for Medical Sciences, Kochi, Kerala, India

Date of Web Publication2-Nov-2018

Correspondence Address:
Dr. P N Sylaja
Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram - 695 011, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_476_17

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How to cite this article:
Baishya J, Kesav P, Nampoothiri S, Sreedharan SE, Sylaja P N. Extensive extrapulvinar calcification in fabry disease. Ann Indian Acad Neurol 2018;21:309-10

How to cite this URL:
Baishya J, Kesav P, Nampoothiri S, Sreedharan SE, Sylaja P N. Extensive extrapulvinar calcification in fabry disease. Ann Indian Acad Neurol [serial online] 2018 [cited 2022 Jan 24];21:309-10. Available from:

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 [Figure 1]a. 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 [Figure 1]b,[Figure 1]c,[Figure 1]d. Invasive cerebral angiogram showed normal vertebrobasilar vasculature [Figure 1] e. Although pulvinar calcification is a pathognomonic sign in FD,[1] extrapulvinar pontine calcification, has not been described before.
Figure 1: (a) Clinical photograph of torso showing multiple angiokeratoma. (b) Computed tomography head showing calcifications involving bilateral thalami (arrow), basal ganglia and pons (arrow). (c) Magnetic resonance imaging brain diffusion-weighted images showing acute infarcts in the right ventral thalamus (arrow) and left lateral medulla, with (d) T1 sequence showing “pulvinar sign” (arrow). (e) Normal vertebrobasilar vasculature on invasive cerebral angiogram

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FD is an X-linked lysosomal storage disorder associated with deficient activity of alpha-galactosidase, causing multisystem accumulation of glycosphingolipids.[2] About 1.5%–4.9% of young patients with cryptogenic stroke were detected to be having FD, thereby reinstating the prevalence of this rare disorder in the cohort of cryptogenic young strokes.[3] The putative pathophysiological mechanisms for recurrent cerebrovascular events (especially posterior circulation) in FD include altered cerebral hemodynamics (related to dolichoectasia), endothelial dysfunction, and upregulation of prothrombotic factors.[2],[4] White matter lesions constitute the most common neuroimaging finding in FD cohort (52%),[2] even in those without prior history of stroke or receiving dialysis (44.4%).[5] Yet another pathognomonic MR neuroimaging finding in FD is the abnormal T1 hyperintensity in the posterior thalamus (Pulvinar sign) seen in up to 23% subjects, with corroborating signal changes of calcium deposition on CT brain images.[1] This dystrophic calcification is possibly contributed by the elevated vertebrobasilar cerebral blood flow and hyperperfusion in FD as demonstrated by perfusion studies.[1],[2] The pulvinar and extrapulvinar neuroimaging findings in our case highlight the consequences of more widespread alteration in cerebral hemodynamics in FD, which is a novel finding in this hitherto underdiagnosed disease cohort.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Moore DF, Ye F, Schiffmann R, Butman JA. Increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 2003;24:1096-101.  Back to cited text no. 1
Fellgiebel A, Müller MJ, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol 2006;5:791-5.  Back to cited text no. 2
Rolfs A, Böttcher T, Zschiesche M, Morris P, Winchester B, Bauer P, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study. Lancet 2005;366:1794-6.  Back to cited text no. 3
Schiffmann R. Fabry disease. Pharmacol Ther 2009;122:65-77.  Back to cited text no. 4
Reisin RC, Romero C, Marchesoni C, Nápoli G, Kisinovsky I, Cáceres G, et al. Brain MRI findings in patients with Fabry disease. J Neurol Sci 2011;305:41-4.  Back to cited text no. 5


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