线粒体病(卵巢-脑白质营养不良)1例报道及文献复习  

Mitochondrial Disease(Ovario-leukodystrophy):One Case Report and Literature Review

作　　者：彭方[1] 俞海[1] 陈向军[1] 蒋雨平[1] 韩丽雅 

机构地区：[1]复旦大学附属华山医院神经内科,200040 [2]温州市中心医院神经内科,325000

出　　处：《中国临床神经科学》2016年第5期505-513,共9页Chinese Journal of Clinical Neurosciences

摘　　要：目的报道1例以卵巢功能不全及脑白质营养不良为主要临床表现的线粒体病病例,提高临床医生对线粒体病的认识。方法收集1例诊断明确的线粒体病(卵巢-脑白质营养不良)患者的临床资料、体征、实验室检查、影像学检查、基因检测结果,并结合文献复习进行分析。结果患者为32岁女性,青春期闭经(卵巢功能不全),28岁行试管婴儿生产后出现认知功能下降,32岁再次行试管婴儿受孕期间,上述症状加重,生产后逐渐出现四肢肌力减退,四肢肌张力高,左手强握,双侧腱反射亢进,双侧病理征阳性。头颅MRI示双侧半卵圆中心及侧脑室旁多发异常信号,横跨胼胝体。静息状态下乳酸、丙酮酸明显高于正常值。血尿串联质谱提示血丙氨酸及尿乳酸偏高。基因检测线粒体DNA未见明显异常。线粒体核基因AARS2存在2个突变位点:c.2557C>T和c.595C>T,HPS5存在2个突变位点:c.2887C>T和c.1207A>C,均为复合杂合突变,最终诊断为线粒体病。结论临床中对于大面积脑白质营养不良及女性合并卵巢功能不全的患者,应当考虑线粒体病的可能。Aim To report a case of mitochondrial disease with leukoencephalopathy and ovarian failure, and review the related literatures. Methods The clinical manifestation, laboratory tests and brain magnetic resonance imaging（MRI） of a patient were collected and the, gene screening results confirmed the diagnosis of mitochondrial disease. Results The patient who presented with secondary amenorrhea and sterile due to ovarian failure, developed cognitive decline at around age 28 when she delivered the first testtube baby. At age 32 after she gave birth to the second test-tube baby, the cognition deteriorated and was accompanied by bilateral atony, dystonia, grasp reflex of the left hand and dysphagia. Head MRI showed abnormal signal in the bilateral centrum semiovale and periventricular white matter. Lactate in blood and urine was extremely elevated. The analysis of AARS2 gene revealed two compound heterogeneous missions mutations [c.2557C〉T] [c.595C〉T] and HPS5 gene revealed another two compound heterogeneous mutations [c.2887C〉T] [c.1207A〉C]. For these reasons, she was diagnosed with mitochondrial disease（ovarioleukodystrophy）. Conclusion Mitochondrial diseases should be taken into consideration when it comes to the diagnosis of patients with leukoencephalopathies, especially when female patients develop ovarian failure.

关 键 词：线粒体病 AARS2基因 脑白质营养不良 卵巢功能不全 

分 类 号：R742[医药卫生—神经病学与精神病学]