From the Mayo Clinic (P.S.G., J.A.T.), Rochester, MN; and Mayo Clinic (G.M.T.), Phoenix, AZ.
Neurology. 2013 Dec 10;81(24):e184. doi: 10.1212/01.wnl.0000437300.51312.9e.
A 69-year-old man had dyspnea followed by slowly progressive proximal leg weakness over 2 years. He had macroglossia (figure 1). Creatine kinase was 1,378 U/L. A deltoid biopsy revealed myopathy, denervation atrophy, and congophilic deposits around perimysial vessels, indicating amyloid (figure 2). Further workup revealed serum monoclonal lambda protein, bone marrow amyloid, and cardiomyopathy. Amyloid myopathy, an underrecognized entity, predominantly presents with progressive proximal weakness in primary amyloidosis.(1) Dyspnea results from cardiomyopathy or respiratory muscle weakness (our patient had both). Macroglossia due to amyloid deposition is a helpful clinical clue. The patient is on chemotherapy with cyclophosphamide, dexamethasone, and bortezomib, which improves prognosis in amyloidosis.(2.)
一位 69 岁男性，2 年来逐渐出现呼吸困难及进行性近端下肢无力。患者有巨舌（图 1）。肌酸激酶为 1378U/L。三角肌活检显示肌病、去神经支配萎缩和围绕肌束膜血管的嗜刚果红沉积物，提示为淀粉样变性（图 2）。进一步检查发现血清单克隆 lambda 蛋白、骨髓淀粉样变性和心肌病。淀粉样肌病是一种认识不足的疾病，主要表现为原发性淀粉样变性的进行性近端肌无力。（1）呼吸困难是由心肌病或呼吸肌无力引起的（我们的患者同时存在这两种情况）。由于淀粉样物质沉积导致的巨舌是一个有用的临床线索。患者正在接受环磷酰胺、地塞米松和硼替佐米化疗，这改善了淀粉样变性的预后。（2.）
