Internal medicine (Tokyo, Japan) · 2015
A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Tomizawa Yuji, Okuzumi Ayami, Shiotsuki Hiromi, Noda Kazuyuki, Hattori Nobutaka, Okuma Yasuyuki
Аннотация
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.