Division of Neurology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Division of Hematology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Neuromuscul Disord. 2018 Jul;28(7):610-613. doi: 10.1016/j.nmd.2018.04.011. Epub 2018 May 16.
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance is a rare subacute adult-onset myopathy. Without appropriate treatment, the prognosis is unfavorable and can be fatal. Various efficacious treatment options have been reported. High dose melphalan followed by autologous stem cell transplantation is the most used option with favorable outcome. Nevertheless, potentially safer alternative regimens await exploration. Here, we report the case of sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance in a 33-year-old man with significant clinical improvement and complete remission of monoclonal gammopathy after 5 cycles of cyclophosphamide, thalidomide, and dexamethasone regimen. The regimen may be considered as an alternative option for patients with sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance that are ineligible for upfront high-dose melphalan with autologous stem cell transplantation or that are being treated in resource-limited settings. Longer-term follow-up is needed to determine the long-term effectiveness of the cyclophosphamide, thalidomide, and dexamethasone regimen.
散发型晚发性杆状体肌病伴意义未明的单克隆丙种球蛋白血症是一种罕见的亚急性成人起病的肌病。如果没有适当的治疗，预后不佳，甚至可能致命。已经报道了各种有效的治疗选择。大剂量马法兰联合自体造血干细胞移植是最常用的方法，预后良好。然而，仍需要探索潜在更安全的替代方案。在这里，我们报告了一例 33 岁男性散发型晚发性杆状体肌病伴意义未明的单克隆丙种球蛋白血症，该患者在接受环磷酰胺、沙利度胺和地塞米松方案 5 个周期治疗后，临床症状显著改善，单克隆丙种球蛋白血症完全缓解。该方案可作为不适合 upfront 大剂量马法兰联合自体造血干细胞移植或在资源有限的情况下接受治疗的散发型晚发性杆状体肌病伴意义未明的单克隆丙种球蛋白血症患者的替代方案。需要进行更长时间的随访以确定环磷酰胺、沙利度胺和地塞米松方案的长期疗效。
