Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease

一名患有戈谢病的78岁女性出现迟发性肌阵挛性癫痫发作

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Abstract

We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed with GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The neurological manifestations included myoclonic seizures and progressive cognitive decline. Although it is rare for GD patients to first develop neurologic manifestations at such an advanced age, physicians engaged in long-term care for GD patients should be alert for this possibility.

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