Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Intern Med. 2024 Mar 15;63(6):861-865. doi: 10.2169/internalmedicine.1699-23. Epub 2023 Aug 9.
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.
我们在此报告一例 78 岁女性戈谢病（GD）患者，该患者最初被诊断为 1 型 GD，58 岁时开始接受长期酶替代治疗，70 多岁时出现神经系统表现。神经系统表现包括肌阵挛性癫痫发作和进行性认知功能下降。虽然 GD 患者如此高龄时首次出现神经系统表现较为罕见，但从事 GD 患者长期护理的医生应警惕这种可能性。
