Moling Wu, H. Xie, Juan Chen, Yong Luo, Gang Zhou, Yuqiong Luo, P. Jin, Jin-ji Xu
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引用次数: 0
摘要
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.
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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