Y染色体性别决定区相关高迁移率组盒蛋白1联合电压门控钙通道抗体阳性的副肿瘤综合征1例报告并文献复习

Report of 1 paraneoplastic syndrome patient with anti-sex determination region related high mobility group box protein-1 and voltage-gated calcium channel antibody positive and literature review

目的探讨1例抗Y染色体性别决定区相关高迁移率组盒蛋白1(SOX1)、电压门控钙通道(VGCC)阳性的副肿瘤综合征(PNS)患者的临床特点。方法回顾性分析1例抗SOX1、VGCC阳性的PNS患者的临床资料,并进行文献复习。结果患者为中老年男性,亚急性起病,主要表现为双下肢无力,伴言语含糊。神经系统专科检查示构音障碍,腱反射减弱,左侧病理征阳性,左侧共济运动差。血清及CSF抗SOX1抗体阳性,血清VGCC抗体明显升高。予以糖皮质激素、丙种球蛋白治疗有效,之后予以依托泊苷、顺铂化疗。随访半年患者病情稳定,临床症状改善明显。结论本例PNS表现为Lambert-Eaton肌无力综合征、副肿瘤小脑变性、副肿瘤性周围神经病等叠加综合征,同时存在两种副肿瘤性自身抗体阳性,提示PNS可表现为多系统的神经损害。

Objective To explore the clinical features of 1 paraneoplastic syndrome(PNS)patient with anti-sex determining region Y-related high mobility group box protein-1(SOX1)and voltage-gated calcium channel(VGCC)antibody positive.Methods The clinical data of 1 PNS patient with anti-SOX1 and VGCC antibody positive was retrospectively analyzed,and the related literatures were reviewed.Results This patient was a middle-aged male,with a sub-acute onset.The main symptoms were weakness in both lower extremities and speech ambiguous.Neurological specialist examination showed dysarthria,tendon reflex weaken,pathologic character positive on the left,poor communal movement on the left.Anti-SOX1 antibodies in serum and CSF were positive.The level of serum VGCC antibody was significantly higher.Glucocorticoid and intravenous immunoglobulin were effective,then etoposide and cisplatin chemotherapy was given.Follow-up for half a year,the patient’s condition was stable,and the clinical symptoms were improved significantly.Conclusions This patient presents with Lambert-Eaton myasthenia syndrome,paraneoplastic cerebellar degeneration and paraneoplastic peripheral neuropathy as a paraneoplastic overlapping syndrome,and double paraneoplastic autoantibodies are positive.It suggest that PNS may manifest as multiple systems neurological damage.