目的 探讨IBA57基因变异致多发性线粒体功能障碍综合征患儿的临床、影像特征及基因变异特点,观察综合康复治疗的效果.方法 对安徽省儿童医院康复科诊治的1例IBA57基因变异所致多发性线粒体功能障碍综合征患儿的4年随访临床资料进行分析.以“IBA57”“脑白质营养不良”及“IBA57”“leukodystrophy”为关键词,对中国期刊全文数据库(CNKI)、万方数据知识服务平台、生物医学文献数据库(PubMed)建库至2017年2月收录的论文进行检索.总结IBA57基因变异患儿临床、影像特征及基因变异特点.结果 患儿,男,4岁8个月,因“运动障碍近4年,反复抽搐发作1.5年”于2017年2月再次入院.1岁时发热后逐渐出现运动及认知障碍,病情进行发展,头颅磁共振成像(MRI)示双侧额顶枕叶及半卵圆中心白质多发异常信号.经过康复治疗后认知及言语改善较好,运动功能逐渐改善.期间头颅MRI示双侧额顶枕叶及半卵圆中心白质多发异常信号均在减少.3岁2个月开始出现抽搐,4岁3个月和4岁6个月头颅MRI提示双侧额顶枕叶及半卵圆中心白质多发异常信号增多.多次住院被诊断为脑白质病可能,后经基因测序发现患儿存在多发性线粒体功能障碍综合征3型相关基因IBA57复合杂合变异:c.286T＞ C(p.Y86H)和c.1053G ＞A(p.W351*),前者遗传自母亲,蛋白结构预测有害;后者遗传自父亲,变异为无义变异,可导致编码蛋白截短,均为未报道过的变异.之后给予大剂量辅酶Q10、三磷酸腺苷(ATP)、复合B族维生素等治疗,同时服用“左乙拉西坦”及“托吡酯”抗癫痫及家庭康复治疗,病情稳定.结论 广泛性脑白质病变的患儿临床要考虑IBA57基因突变引起多发性线粒体功能障碍综合征的可能.%Objective To investigate the clinical,imaging and IBA57 gene mutation features in a Chinese patient with multiple mitochondrial dysfunction syndrome,and to evaluated the effect of comprehensive rehabilitation.Methods The clinical data of 1 case of multiple mitochondrial dysfunction syndrome with IBA57 mutation in Department of Rehabilitation,Anhui Provincial Children's Hospital were analyzed."IBA57 white matter malnutrition" and "IBA57 leukodystrophy" were used as the key words,to search for papers which were included in CNKI,the knowledge service platform of Wanfang Data,and biomedical literature database (PubMed) from its establishment to February 2017.The clinical,imaging and gene mutation characteristics of children with IBA57 gene mutation were summarized.Results Children,male,four years and 8 months,for "movement disorders for nearly 4 years,repeated seizures 1 and a half years" in February 2017 hospitalized again.The boy was admitted into hospital when he was one year of age because of motor and cognitive disorder after fever,Disease was development,The skull MRI showed multiple abnormal signal in bilateral frontal occipital lobe and semi-oval center white matter.Cognitive and verbal improvement was better,and the motor function gradually improved after repeated rehabilitation in our hospital,skull MRI showed that multiple abnormalities were reduced in bilateral frontal occipital lobe and semi-oval center white matter.However,The boy presented twitch when he was three years and 2 months old.Skull MRI showed that multiple abnormal signal increased in bilateral forehead occipital lobe and semi-oval center white matter in four years and 3 months and 6 months of age.The child was diagnosed with white matter disease after multiple hospitalizations,and c.286T ＞ C (p.Tyr86 His) and c.1053 G ＞ A (p.Trp351 *) were found in the IBA57 gene through exome sequencing analysis,as the 2 mutations constituted complex heterozygous mutation.The former was inherited from the mother,and the mutation was missense mutation,so the protein structure was predicted to be harmful;the latter was inherited from the father,and the mutation was nonsense mutation,which could lead to the coding protein truncation,and this was never reported before.The child was diagnosed as multiple mitochondrial dysfunction syndrome type 3,followed by treatment with high-dose coenzyme Q10,ATP,compound vitamin B and others.While taking levetiracetam and topiramate antiepileptic,and family rehabilitation,his condition was stable.Conclusion The extensive white matter lesions presented in the child may be caused by mitochondrial disease with IBA57 gene mutation.
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