From the Mayo Clinic, Rochester, MN, USA.
Neurology. 2013 Jun 4;80(23):e248-9. doi: 10.1212/WNL.0b013e318295d6f4.
A 58-year-old woman with long-standing mixed connective tissue disorder had proximal leg weakness for 4 months. She had been treated with 400 mg/day of hydroxychloroquine and varying doses of prednisone over 15 years. Creatine kinase was 600 U/mL. MRI of quadriceps showed edema and its biopsy revealed myriad acid-phosphatase–positive autophagic vacuoles indicating increased lysosomal activity (figure). Hydroxychloroquine induces autophagy by reducing lysosomal acidity. Autophagic vacuolar myopathy can be seen with chloroquine or colchicine therapy or in inherited disorders (α-glucosidase deficiency, Danon disease, and X-linked myopathy with excessive autophagy). Hydroxychloroquine myopathy usually presents with mild to moderate proximal weakness and rarely causes severe weakness and respiratory failure. Our patient's weakness improved after discontinuing hydroxychloroquine.
一位 58 岁的女性患有长期混合性结缔组织病，出现了 4 个月的近端腿部无力。她在过去 15 年中接受了 400mg/天羟氯喹和不同剂量的泼尼松治疗。肌酸激酶为 600U/mL。股四头肌的 MRI 显示水肿，其活检显示大量酸性磷酸酶阳性自噬空泡，表明溶酶体活性增加（图）。羟氯喹通过降低溶酶体酸度诱导自噬。氯喹或秋水仙碱治疗或遗传性疾病（α-葡萄糖苷酶缺乏症、Danon 病和 X 连锁伴过度自噬的肌病）可出现自噬空泡性肌病。羟氯喹性肌病通常表现为轻度至中度的近端无力，很少导致严重的无力和呼吸衰竭。我们的患者在停用羟氯喹后肌无力得到改善。
