A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions

Yuji Tomizawa; Ayami Okuzumi; Hiromi Shiotsuki; Kazuyuki Noda; Nobutaka Hattori; Yasuyuki Okuma

doi:10.2169/internalmedicine.54.4437

CASE REPORTS

A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions

Yuji Tomizawa, Ayami Okuzumi, Hiromi Shiotsuki, Kazuyuki Noda, Nobutaka Hattori, Yasuyuki Okuma

Author information

Keywords: pulvinar sign, Fabry disease, vascular parkinsonism

JOURNAL OPEN ACCESS

2015 Volume 54 Issue 19 Pages 2503-2506

DOI https://doi.org/10.2169/internalmedicine.54.4437

Details

Abstract

A 76-year-old man was admitted to our hospital due to gait difficulty. Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally low. Therefore, the patient was suspected to have variant Fabry disease. A GLA mutation analysis showed the p.E66Q mutation, which is speculated to be a functional polymorphism rather than a disease-causing mutation of Fabry disease. Enzyme replacement therapy did not result in a marked improvement, however, the disease progression stopped.

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