COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1.

IF 1
Tanyel Zubarioglu, Saffa Ahmadzada, Cengiz Yalcinkaya, Ertugrul Kiykim, Cigdem Aktuglu-Zeybek
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引用次数: 3

Abstract

Objectives: The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the first sign of glutaric aciduria type 1 (GA-1).

Case presentation: A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease. She had lethargy, hypotonia, and choreoathetoid movements. In terms of COVID-19 encephalopathy, the reverse transcription-polymerase chain reaction assay test for COVID-19 was negative in cerebral spinal fluid. Brain imaging showed frontotemporal atrophy, bilateral subcortical and periventricular white matter, basal ganglia, and thalamic involvement. Elevated glutarylcarnitine in plasma and urinary excretion of glutaric and 3-OH-glutaric acids was noted. A homozygote mutation in the glutaryl-CoA dehydrogenase gene led to the diagnosis of GA-1.

Conclusions: With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature.

1例戊二酸尿1型患者新冠肺炎引发的脑病危象
目的:冠状病毒病-19 (COVID-19)对先天性代谢错误患者代谢结局的影响很少被讨论。在此,我们报告一例在COVID-19疾病过程中出现急性脑病危象,作为1型戊二酸尿症(GA-1)的第一个征兆。病例介绍:一名9个月大的患者在COVID-19疾病期间因脑病和急性获得性运动技能丧失而入院。她有嗜睡、张力低下和动作矫形。在新冠肺炎脑病方面,脑脊液新冠病毒逆转录聚合酶链反应试验呈阴性。脑成像显示额颞叶萎缩,双侧皮质下和脑室周围白质,基底神经节和丘脑受累。血浆中戊二酰肉碱升高,尿中戊二酸和3- oh -戊二酸排泄增高。戊二酰辅酶A脱氢酶基因纯合子突变导致GA-1的诊断。结论:本报告是文献中首次报道GA-1患者与COVID-19相关的神经损伤。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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