摘要
目的探讨ALG13基因突变致婴儿痉挛症(infantile spasm, IS)的基因突变特点及临床特征。方法回顾性分析1例IS患儿的病例资料、辅助检查及遗传学检测结果,并复习相关文献。结果患儿女,5岁8个月,主因"间断抽搐发作5年4个月,伴发育落后"入院。患儿营养欠佳,意识清楚,精神运动发育落后。患儿2月龄起病,4岁时全面性发作并发展为难治性癫痫,伴全面发育落后和肌张力低下。血代谢筛查示精氨酸降低;尿代谢示苯乙酸、3-羟基苯乙酸及戊二酸浓度增高。脑电图示大量弥漫性尖(棘)波、尖(棘)慢波近持续性发放,枕区显著。头颅MRI示脑沟稍显著,脑外间隙略宽,双侧颞角稍扩张。染色体检查未见异常。线粒体呼吸链酶复合物Ⅰ、Ⅳ及ATPase酶活力检测未见异常。基因分析示ALG13基因第3个外显子上杂合突变c.280A>G (p.K94E),为自发突变。结论对于早发并进展为难治性癫痫的IS患儿,合并发育落后及肌张力异常时应考虑ALG13基因突变,并检测先天性糖基化蛋白进一步明确诊断。
Objective To investigate the features of gene mutation and clinical characteristics ofinfantile spasms （IS） caused by ALG13 gene mutation. Methods The case data, auxiliary examinationsand genetic test results of one case of children with IS were retrospectively analyzed, and the relevantliteratures were reviewed. ResultsThe female patient was admitted to hospital at 5 years 8 months,because of intermittent seizures with delayed development for 5 years 4 months. The nutrition of the childwas poor, the consciousness was clear, and the spiritual development delayed. The case was onset at the ageof 2 months, and as a refractory epilepsy due to generalized seizures and accompanied by comprehensivedevelopment behind and low muscle tension at 4 years old. Blood metabolic screening showed Argininedecreased, while urinary metabolism showed the increase of concentration of Phenylacetic acid,3-hydroxyphenylacetic acid and glutaric acid. Electroencephalogram （EEG） showed a large number ofdiffuse sharp （spine） wave, sharp （spine） slow wave near-continuous release, pillow area obviously. Cranial MRI showed sulcus slightly prominent, extra-cerebral space slightly wider, bilateral temporal angle slightlyexpanded. Chromosome examination was no abnormalities. And so was mitochondrial respiratory chainenzyme complex Ⅰ , Ⅳ and ATPase enzyme activity. Gene analysis revealed the exon 3 of ALG13 genehad a heterozygous mutation site c.280A〉G （p.K94E）, as a spontaneous mutation. Conclusions TheALG13 gene mutation should be considered when the early onset epilepsy progresses to refractory caseand complicated with developmental lag and abnormal muscle tension for IS child. At the same time, thecongenital glycosylation proteins should be detected for further diagnosis.
作者
郭淑芳
何文
敦硕
邹丽萍
GUO Shu-fang;HE Wen;DUN Shuo;ZOU Li-ping(Children＇s Medical Center,Chinese PLAGeneral Hospital,Beijing 100853,China;Department of Pediatrics,Nankai Medical College,NankaiUniversity,Tianjin 300071,China;Institute of Epilepsy,Beijing Institute for Brain Disorders,Beijing100069,China)
出处
《发育医学电子杂志》
2018年第4期242-246,共5页
Journal of Developmental Medicine (Electronic Version)
基金
国家自然科学基金(81471329)
国家重点基础研究发展计划(2012CB517903)
国家重点研发计划(2016YFC1000707)
关键词
婴儿痉挛症
基因突变
先天性糖基化障碍
Infantile spasms
Gene mutations
Congenital glycosylation abnormal
