儿童重症肌无力合并卵巢早衰及粒细胞减少症一例并文献复习  

Pediatric myasthenia gravis complicated with premature ovarian failure and granulocytopenia:a case report and literature review

作　　者：谢艾岑 廖雄宇 何展文[1] Xie Aicen;Liao Xiongyu;He Zhanwen(Department of Pediatrics,Sun Yatsen Memorial Hospital,Sun Yat-sen University,Guangzhou 510120,China)

机构地区：[1]中山大学孙逸仙纪念医院儿科,广州510120

出　　处：《新医学》2020年第12期947-952,共6页Journal of New Medicine

摘　　要：目的探讨儿童重症肌无力合并卵巢早衰及粒细胞减少症的发病机制、诊治方法及预后。方法收集一例重症肌无力合并卵巢早衰及粒细胞减少症儿童的临床资料,以“重症肌无力”“卵巢早衰”“粒细胞减少症”为关键词(包括中英文)对PubMed和中国知识基础设施工程(CNKI)数据库收录的论文进行检索,结合文献分析病例特点、实验室检查、影像学检查、诊治方法。结果该例13岁患儿以双下肢乏力、双眼睑下垂、继发性闭经及粒细胞减少为主要表现,其乙酰胆碱受体抗体、抗卵巢IgG抗体均为阳性,卵泡刺激素明显升高(102.2 U/L),雌二醇水平下降(17 ng/L);白细胞1.88×109/L,中性粒细胞0.69×109/L;B超提示双侧卵巢容积减少;胸部CT提示胸腺增生。考虑诊断为重症肌无力合并卵巢早衰及粒细胞减少症,治疗上予胸腺切除,静脉注射丙种球蛋白调节免疫,并继续口服溴吡斯的明,择期予性激素替代治疗;随访至2020年3月,患儿无肌无力发作,中性粒细胞升至正常水平,但仍闭经。检索数据库后共收集到7篇相关病例报道,年龄15~27岁,临床表现重症肌无力、卵巢早衰,予溴吡斯的明、雌激素替代治疗、胸腺切除、血浆置换等治疗,治疗效果不一。结论儿童重症肌无力合并卵巢早衰及粒细胞减少症在国内外均十分罕见,其发病机制可能与机体T淋巴细胞功能紊乱有关,造成多器官免疫损伤,在祛除诱因的前提下,应纠正机体免疫紊乱,同时予溴吡斯的明对症处理,必要时予性激素替代治疗。Objective To investigate the pathogenesis,diagnosis,treatment and prognosis of myasthenia gravis(MG)complicated with premature ovarian failure(POF)and granulocytopenia.Methods Clinical data of one child with MG complicated with POF and granulocytopenia were collected.Literature review was conducted by using the keywords of“myasthenia gravis”,“premature ovarian failure”and“granulocytopenia”from PubMed and CNKI.Clinical characteristics,laboratory and imaging examination,diagnosis and treatment of this case were analyzed.Results The main manifestations of this 13-year old patient included lower limb fatigue,double eyelid ptosis,secondary amenorrhea and granulocytopenia.The acetylcholine receptor antibody(AchR-Ab)and anti-ovarian antibodies-IgG(AOA)were positive.The follicle-stimulating hormone(FSH)was significantly increased(102.2 U/L)and the estrogen(E26)level was decreased(17 ng/L).The white blood cell count was 1.88×109/L and the neutrophil count was 0.69×109/L.B-mode ultrasound showed volume reduction of bilateral ovaries.Chest CT prompted thymic hyperplasia.The diagnosis of MG complicated with POF and granulocytopenia was confirmed.The child underwent thymectomy,intravenous immunoglobulin for immunity regulation,oral intake of pyridostigmine bromide and alternative sex hormone replacement therapy.During follow-up until March 2020,the child experienced no onset of muscle weakness,the neutrophil level rose to normal range,whereas she still had amenorrhea.Through literature review,7 relevant articles were retrieved,aged 15-27 years old.Clinical manifestations mainly consisted of MG and POF.The therapeutic options primarily included pyridostigmine bromide,estrogen replacement therapy,thymectomy and plasma exchange with different clinical efficacy.Conclusions Pediatric MG complicated with POF and granulocytopenia has been rarely reported at home and abroad.The pathogenesis of these complicated diseases may be related to the dysfunction of T lymphocytes in the body,leading to immune damage of multiple o

关 键 词：重症肌无力 卵巢早衰 粒细胞减少症 T淋巴细胞功能紊乱 儿童 

分 类 号：R746.1[医药卫生—神经病学与精神病学] R711.75[医药卫生—临床医学] R557.3