僵人综合征及僵人叠加综合征六例的临床特点及丙种球蛋白疗效观察

Stiff-person syndrome and stiff-person plus syndrome: analyses of 6 cases and the effects of intravenous immunoglobulin on these diseases

目的 研究僵人综合征（stiff-person syndrome, SPS;stiff-man syndrome）及僵人叠加综合征（stiff-person plus syndrome, SPPS）的临床特点并观察静脉注射大剂量丙种球蛋白（IVIg）的近期治疗效果.方法 回顾性分析1996-2005年我院6例SPS及SPPS的临床特点及4例IVIg（0.4 g/kg×5 d）治疗前后进行自身对照.结果 5例女性（46±8）岁发病;1例新生儿（出生10 d）发病,为我们所知目前发病最早的SPS,均缓慢起病,逐渐加重或波动性肌肉痉挛,颈肌、表情肌、咀嚼肌、咽部及呼吸肌多受累.眼肌受累3例,1例合并Chaddock征及Babinski征（＋）.合并卵巢癌1例,糖尿病Ⅰ型1例.IVIg治疗难治性SPS 4例,观察4～8个月,有较好疗效.结论 （1）6例患者均为女性,1例病程22年的新生儿发病者,结合其他报道提示婴幼儿期发病者可能偏良性过程;（2）SPS作为一种自身免疫性疾病可在发现恶性肿瘤（如卵巢癌）数年前发病,此现象应引起高度重视;（3）IVIg治疗SPS近期疗效确实.

Objective To study the clinical features of stiff-person syndrome （SPS） in Chinese SPS patients and the influence of IVIg on refractory SPS. Method Six SPS cases admitted in our hospital during the period from 1996 to 2005 were retrospectively analyzed, and 4 SPS cases who had been proved relatively refractory to benzodiazepines and baclofen were treated with IVIg （0.4 g/kg × 5 d）. Self-control was performed for the evaluation of the influence of IVIg. Results Six SPS cases were all female, and onset was mainly in middle age [ （46±8 ）years] except for one case of neonatal onset （at the age of 10 days）. The most commonly noticed symptom was progressive or fluctuating rigidity and stiffness of the truncal muscle, cervical muscle, masseter and mimetic muscles. Three of 6 cases were noticed with abnormal eye movement, and one of them was a rare case whose onset was at the age of 10 days which, to our knowledge, was the third case of such infantile case reported in the literature and the youngest in both China and the world. The complications included oophoroma, diabetes type 1, or other autoimmune disorders. Observed for 4 to 8 months, IVIg was proven to be effective for the 4 refractory SPS cases. Conclusions The onset of Chinese SPS patients is mainly in adulthood. The prognosis of those with infantile onset might be relatively benign. SPS might occur several years before some malignant tumor （ i. e. oophoroma） develops. IVIg is proven to be a good short-term therapeutic method for Chinese SPS patients.