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.