血清水通道蛋白4抗体阳性的中枢神经系统脱髓鞘病104例临床特点分析

The Clinical Characteristics of Central Nervous System Demyelinating Disorders with Positive Serum AQP4 Antibody: A Retrospective Study of 104 Chinese Cases

目的探讨水通道蛋白4抗体(AQP4-Ab)阳性中枢神经系统脱髓鞘病患者的临床特点。方法回顾性分析104例患者的临床资料,结合临床特点和诊断进行综合分析。结果 57例符合视神经脊髓炎(NMO)诊断,42例符合NMO谱系病(NMOSD)诊断,5例仅有颅内典型病灶不伴视神经炎或脊髓炎。首次发病累及脊髓、视神经和脑干分别为55.8%、43.2%和29.8%。头颅MRI异常者占52.4%。4例脊髓病灶为短节段。结论少数AQP4-Ab阳性患者的孤立颅内典型部位病变,通过随访最终可能满足NMO或NMOSD诊断。提示目前的诊断标准需进一步完善,NMO可以出现短节段脊髓病灶。

Aim To summarize the clinical characteristics of patients with positive AQP4 antibody （AQP4-Ab）. Methods The clinical data of 104 patients with positive serum AQP4-Ab were reviewed retrospectively. Results-57 patients were diagnosed with neuromyelitis optica （NMO）, and 42 were diagnosed with NMO spectrum disorders （NMOSD）. 5 patients had brain lesions typical of NMO but without optic neuritis or myelitis, and did not meet the diagnostic criteria of NMOSD. Myelitis （55.8%） and optic neuritis （43.2%） were the most common symptoms during the first attack. 29.8% of the patients had brainstem involvement during the first episode. Intractable hiccups and vomiting was the most characteristic phenomenon. 52.4% of the patients had brain lesions on MRI. Brainstem, deep white matter and thalamus were most commonly involved. Simultaneously or successively involvements of cervical and thoracic cord were common （48.8%）. Most of the patients had long spinal cord lesions （ ≥ 3 vertebral segments）,except for 4 patients： 2 had monophasic short cord lesion, 2 had short cord lesion first then had long cord lesion during the subsequent episodes. Cervical cord lesion extending upward to medulla oblongata accounted for 14%. ANA （54.6%）, SS-A（22.7%） and thyroid peroxidase antibody （TPOAb） （31.7%） positive were common. Conclusion A few patients with isolated typical brain lesions will likely eventually meet the diagnostic criteria through follow up, suggesting that the current concept of NMO or NMOSD needs to be further improved. Intractable hiccups and vomiting as the symptom of brain stem involvement should be emphasized. Brain lesions are common; the midline structures near cerebrospinal fluid （CSF） pathway and deep white matter are highly vulnerable. Cervical cord lesions extending upward to medulla oblongata are typical and short cord lesions do not exclude the diagnosis of NMO. Positivity of other auto antibodies is high in AQP4-Ab positive patients.