成人晚发型杆状体肌病合并单克隆丙种球蛋白病1例报道及文献复习

Sporadic Late-onset Nemaline Myopathy with Monoclonal Gammopathy: A Case Report and Literature Review

目的探讨成人晚发型杆状体肌病(SLONM)合并单克隆丙种球蛋白病的临床及病理特点,以提高临床医生对该病的认识。方法收集1例明确诊断为SLONM伴单克隆丙种球蛋白病患者的病史及体征、实验室检查、肌电图、肌肉MRI、肌肉病理活检结果并结合文献复习进行分析。结果患者为42岁女性,因肩背部酸痛1年余伴四肢无力8个月入院。查体示中轴肌及四肢近端肌无力。血M蛋白阳性(为Ig G、κ轻链型);尿免疫固定电泳阴性;骨扫描示左第6肋后点状放射性增高;肌肉病理染色示肌纤维内杆状体沉积。结合表型诊断为SLONM伴单克隆丙种球蛋白病。给予静脉注射人免疫球蛋白治疗1个疗程后,肌无力及血液学异常均无明显改善,再经血浆置换联合环磷酰胺、甲泼尼龙治疗后肌无力轻度好转。结论成人SLONM伴单克隆丙种球蛋白病肌肉受累可以早于其他系统损害出现,肌肉活检病理明确诊断后,有助于早期发现潜在的M蛋白血症以及时干预。预后常不佳,人免疫球蛋白对肌肉损害的改善效果尚有争议,血浆置换联合环磷酰胺、甲泼尼龙治疗可能有效。

Aim To report a Chinese case had sporadic late-onset nemaline myopathy（SLONM）with monoclonal gammopathy and review the literature retrospectively. Methods The clinical manifestation, laboratory tests results, muscle MRI and muscle pathology of a Chinese patient with SLONM and monoclonal gammopathy were collected and reviewed. Results A 42-year old woman complained of muscle soreness in shoulder girdle for 8 months. Physical examination revealed axial muscle and bilateral proximal muscle weakness. Monoclonal Ig G（kappa） was detected in patient＇s serum while negative inher urine. Increased radioactivity in the patient＇s post-sixth rib was demonstrated by isotope scan. Muscle biopsy with revealed nemaline bodies in most muscle fibers in trichrome Gomori staining that SLONM with monoclonal gammopathy was confirmed. No evidential improvement was identified after the IVIg treatment, whereas combination therapy of double filtration plasmapheresis, cyclophosphamide and methylprednisolone mildly improved the physical strength. Conclusion Myopathy could be the most prominent clinical manifestation than other systemic involvement. Early diagnosis of SLONM by the muscle biopsy is so extremely important that the MGUS could be highly suspected and screened. It remains unknown that whether the IVIg treatment could be favor for the SLONM.