A case of pyruvate dehydrogenase complex deficiency with sudden respiratory and cardiac arrest

中国小儿急救医学 Pub Date : 2020-01-20 DOI:10.3760/CMA.J.ISSN.1673-4912.2020.01.016

Moling Wu, H. Xie, Juan Chen, Yong Luo, Gang Zhou, Yuqiong Luo, P. Jin, Jin-ji Xu

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Abstract

目的探讨以呼吸心跳骤停为首发表现的丙酮酸脱氢酶复合物缺乏症患儿的临床、影像学特点及基因分析。方法对2017年深圳市宝安区妇幼保健院因突发呼吸心跳骤停就诊的1例丙酮酸脱氢酶复合物缺乏症患儿的临床特征、影像学资料进行总结，以"丙酮酸脱氢酶复合物缺乏症"、"PDHA1"等为关键词，查阅PubMed数据库、中国知识基础设施工程(CNKI)数据库、万方数据库建库至2019年3月相关文献，对国内报道的病例进行总结。结果先证者男，2个月10 d，感染后突发呼吸心跳骤停，伴高乳酸血症，难以纠正的代谢性酸中毒。头颅MRI检查提示：(1)双侧大脑基底节区异常信号，符合Leigh病影像学改变；(2)左侧室管膜下少许出血。脑电图提示异常放电。线粒体病相关基因检测提示PDHA1基因存在c.1132C>T，p.H378C半合突变。患儿于1岁时死亡。结论丙酮酸脱氢酶复合物缺乏症多以神经系统症状起病，以心跳呼吸骤停为突发表现的报道罕见，及时心肺复苏、呼吸机支持能暂时挽救生命，为原发病治疗争取时间，但最终预后差，病死率高。PDHA1基因c.1132C>T，p.H378C变异是其致病原因。

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丙酮酸脱氢酶复合物缺乏伴呼吸和心脏骤停1例

Objective: To explore the clinical, imaging features, and genetic analysis of children with pyruvate dehydrogenase complex deficiency who first manifest as respiratory and cardiac arrest. Method: The clinical characteristics and imaging data of a child with pyruvate dehydrogenase complex deficiency who was diagnosed with sudden respiratory and cardiac arrest at the Bao'an District Maternal and Child Health Hospital in Shenzhen in 2017 were summarized. Using keywords such as "pyruvate dehydrogenase complex deficiency" and "PDHA1", the PubMed database, China Knowledge Infrastructure Engineering (CNKI) database, and Wanfang database were searched for relevant literature until March 2019, Summarize the reported cases in China. The proband male, 2 months and 10 days old, experienced sudden respiratory and cardiac arrest after infection, accompanied by hyperlactatemia and difficult to correct metabolic acidosis. The head MRI examination revealed: (1) abnormal signals in the bilateral basal ganglia of the brain, consistent with the imaging changes of Leigh's disease; (2) There is a slight bleeding under the left ventricular septum. The electroencephalogram indicates abnormal discharge. Mitochondrial disease related gene testing suggests the presence of c.1132C>T, p.H378C hemizygous mutations in the PDHA1 gene. The child died at the age of 1. Conclusion: Pyruvate dehydrogenase complex deficiency often starts with neurological symptoms, and reports of sudden cardiac and respiratory arrest are rare. Timely cardiopulmonary resuscitation and ventilator support can temporarily save lives and buy time for primary disease treatment, but the final prognosis is poor and the mortality rate is high. The c.1132C>T, p.H378C mutation in the PDHA1 gene is the pathogenic factor.

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中国小儿急救医学

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期刊介绍： Chinese Journal of Neurology was established in 1955, the predecessor of which is Chinese Journal of Neurology and Psychiatry. Chinese Journal of Neurology and Psychiatry has been indexed by MEDLINE until 1996, when it was divided into two journals, Chinese Journal of Neurology, and Chinese Journal of Psychiatry. Chinese Journal of Neurology is now indexed by EM, SCOPUS, AJ, WPRIM, CNKI, Wanfang Data, CSCD, etc. The impact factor of the journal is 2.755 in 2017, ranking the first among all neurological and psychological journals in China and among all the 142 medical journals published by the Chinese Medical Association. The journal is available both in print and online.

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