McKeon A, Lennon V A, Lotze T, Tenenbaum S, Ness J M, Rensel M, Kuntz N L, Fryer J P, Homburger H, Hunter J, Weinshenker B G, Krecke K, Lucchinetti C F, Pittock S J
Departments of Neurology and Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Neurology. 2008 Jul 8;71(2):93-100. doi: 10.1212/01.wnl.0000314832.24682.c6. Epub 2008 May 28.
In adult patients, autoantibodies targeting the water channel aquaporin-4 (AQP4) are a biomarker for a spectrum of CNS inflammatory demyelinating disorders with predilection for optic nerves and spinal cord (neuromyelitis optica [NMO]). Here we describe the neurologic, serologic, and radiographic findings associated with CNS AQP4 autoimmunity in childhood.
A total of 88 consecutive seropositive children were identified through service evaluation for NMO-IgG. Sera of 75 were tested for coexisting autoantibodies. Clinical information was available for 58.
Forty-two patients (73%) were non-Caucasian, and 20 (34%) had African ethnicity. Median age at symptom onset was 12 years (range 4-18). Fifty-seven (98%) had attacks of either optic neuritis (n = 48; 83%) or transverse myelitis (n = 45; 78%), or both. Twenty-six (45%) had episodic cerebral symptoms (encephalopathy, ophthalmoparesis, ataxia, seizures, intractable vomiting, or hiccups). Thirty-eight (68%) had brain MRI abnormalities, predominantly involving periventricular areas (in descending order of frequency): the medulla, supratentorial and infratentorial white matter, midbrain, cerebellum, thalamus, and hypothalamus. Additional autoantibodies were detected in 57 of 75 patients (76%), and 16 of 38 (42%) had a coexisting autoimmune disorder recorded (systemic lupus erythematosus, Sjögren syndrome, juvenile rheumatoid arthritis, Graves disease). Attacks were recurrent in 54 patients (93%; median follow-up, 12 months). Forty-three of 48 patients (90%) had residual disability: 26 (54%) visual impairment and 21 (44%) motor deficits (median Expanded Disability Status Scale 4.0 at 12 months).
Aquaporin-4 autoimmunity is a distinctive recurrent and widespread inflammatory CNS disease in children.
在成年患者中，靶向水通道蛋白4（AQP4）的自身抗体是一系列中枢神经系统（CNS）炎性脱髓鞘疾病的生物标志物，这些疾病易累及视神经和脊髓（视神经脊髓炎[NMO]）。在此，我们描述儿童CNS AQP4自身免疫相关的神经、血清学和影像学表现。
通过对NMO-IgG的服务评估，共识别出88例连续的血清学阳性儿童。对75例患儿的血清检测是否存在共存的自身抗体。58例患儿有临床信息。
42例患者（73%）为非白种人，20例（34%）为非洲裔。症状发作的中位年龄为12岁（范围4 - 18岁）。57例（98%）有视神经炎发作（n = 48；83%）或横贯性脊髓炎发作（n = 45；78%），或两者皆有。26例（45%）有发作性脑症状（脑病、眼球运动麻痹、共济失调、癫痫、顽固性呕吐或呃逆）。38例（68%）有脑部MRI异常，主要累及脑室周围区域（按频率降序排列）：延髓、幕上和幕下白质、中脑、小脑、丘脑和下丘脑。75例患者中有57例（76%）检测到其他自身抗体，38例中有16例（42%）记录有共存的自身免疫性疾病（系统性红斑狼疮、干燥综合征、幼年类风湿关节炎、格雷夫斯病）。54例患者（93%；中位随访12个月）发作复发。48例患者中有43例（90%）有残留残疾：26例（54%）视力障碍，21例（44%）运动功能缺损（12个月时扩展残疾状态量表中位值为4.0）。
水通道蛋白4自身免疫是儿童一种独特的复发性广泛性炎性CNS疾病。
