Neurology Department, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran; Neurology Department, Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Pediatric Pathology Research Center, Research Institute for Children's health, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Mofid Children Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Neuromuscul Disord. 2021 Jan;31(1):29-34. doi: 10.1016/j.nmd.2020.11.004. Epub 2020 Nov 12.
Sporadic late-onset nemaline myopathy (SLONM) is a rare, acquired muscle disease presenting with subacute progression in adulthood. It can be accompanied by a monoclonal gammopathy of undetermined significance (MGUS). We describe clinical and histopathological findings of four SLONM patients with MGUS. In all patients, nemaline rod, inter-myofibrillary network disruption, atrophic changes, peripheral basophilic discoloration, vacuole without rim, and cytoplasmic body without inflammation were seen. Three out of four patients were treated with prednisolone in combination with IVIG monthly and had an appropriate response to the treatment. The optimal first-line treatment remains unclear in SLONM-MGUS, although corticosteroids plus IVIg is associated with favorable clinical response. These treatment modalities might be used as an optional treatment before autologous stem cell transplantation; however, further studies with a higher number of patients are required.
散发性迟发性先天性肌营养不良症（SLONM）是一种罕见的获得性肌肉疾病，成年后亚急性进展。它可伴有意义未明的单克隆丙种球蛋白血症（MGUS）。我们描述了 4 例伴有 MGUS 的 SLONM 患者的临床和组织病理学发现。在所有患者中，均可见杆状畸形、肌间纤维网络中断、萎缩性改变、外周嗜碱性变色、无边缘空泡和无炎症的细胞质体。4 例患者中有 3 例接受泼尼松龙联合每月 IVIG 治疗，治疗反应良好。尽管皮质类固醇加 IVIg 与良好的临床反应相关，但在 SLONM-MGUS 中，最佳的一线治疗方法仍不清楚。这些治疗方法可能在自体干细胞移植前作为一种可选的治疗方法；然而，需要更多的患者进行进一步的研究。
