探讨表现为慢性痛性眼肌麻痹的抗GQ1b抗体综合征的诊断学特征。

回顾性分析2022年2月7日北京大学第一医院神经内科收治的1例表现为慢性痛性眼肌麻痹的抗GQ1b抗体综合征患者的临床资料，总结其诊断学特征，并文献复习。

患者女性，66岁，2年前以眼痛、复视为首发症状，早期症状呈波动性，半年前眼痛及眼睑下垂症状急剧加重，伴眩晕。右眼上睑下垂，完全遮盖瞳孔，右眼外斜位，内收、上视、下视受限，右眼内收时角膜内缘距内眦2 mm，向左侧注视时复视最明显，双眼左右视时有眼痛。闭目难立征阳性，双侧膝反射及跟腱反射未引出。血GD3 IgG抗体、GT1a IgG抗体、GQ1b IgG抗体均强阳性。眼眶和头颅海绵窦核磁共振成像(MRI)未见明显异常；神经传导速度正常；脑脊液常规、生化正常；眼震电图提示扫视可见欠射，Ⅱ-Ⅲ型跟踪曲线。予小剂量口服糖皮质激素(30 mg/d)后，患者痛性眼肌麻痹及头晕症状明显好转。

抗GQ1b抗体综合征可以表现为复发性的慢性痛性眼肌麻痹，前庭神经功能障碍，结合临床表现及血清抗体谱检测有助于疾病的正确诊断，小剂量激素治疗有效。

To explore the diagnostic characteristics of anti-GQ1b antibody syndrome with chronic painful ophthalmoplegia.

The clinical data were collected retrospectively from a patient with anti-GQ1b antibody syndrome presenting with chronic painful ophthalmoplegia admitted to the Department of Neurology, Peking University First Hospital on February 7, 2022. The diagnostic characteristics were summarized and the relevant literatures were reviewed.

The patient was a 66-year-old female on a two-year course. The first signs were eye pain and diplopia. The initial symptoms were erratic. The symptoms of eye pain and blepharoptosis became severe six months ago, accompanied by vertigo.The physical examination revealed that the right eye′s upper eyelid was drooping, the pupil was completely covered, the right eye was in an outward oblique position, and adduction, upper vision, and lower vision were all limited. When the right eye was adducted, the inner edge of the cornea was 2 mm away from the inner canthus. When looking to the left, diplopia was most noticeable. There was eye pain when both eyes look left and right. The Romberg′s sign was positive, and neither the bilateral patellar tendon reflex nor the Achilles tendon reflex were elicited. The blood GD3 IgG antibody, GT1a IgG antibody, and GQ1b IgG antibody levels were all extremely high. The MRI of the orbit and cranial cavernous sinus revealed no obvious abnormalities, and nerve conduction velocity, cerebrospinal fluid routine, and biochemistry were all normal. The electronystagmogram revealed underemission in the saccade, with a type Ⅱ-Ⅲ tracking curve. After taking low-dose glucocorticoids orally (30 mg/d), the symptoms of painful ophthalmoplegia and dizziness improved significantly.

Anti-GQ1b antibody syndrome can cause recurrent chronic painful ophthalmoplegia, vestibular nerve dysfunction. It works well for low-dose hormone therapy. Combining with clinical manifestations and serum antibody spectrum detection is helpful for the accurate diagnosis of the disease.