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50 日龄婴儿感染柯萨奇 A4 病毒后出现横纹肌溶解症合并先天性肌营养不良症(福山型)。

Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy.

机构信息

Department of Neurology, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.

Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Aichi, Japan.

出版信息

J Infect Chemother. 2020 May;26(5):516-519. doi: 10.1016/j.jiac.2019.12.015. Epub 2020 Jan 23.

Abstract

BACKGROUND

Fukuyama congenital muscular dystrophy (FCMD), which is characterized by generalized muscle weakness, hypotonia, and motor delay during early infancy, gradually progresses with advanced age. Although acute rhabdomyolysis following infection in patients with FCMD has occasionally been reported, no studies have investigated rhabdomyolysis following viral infection in FCMD patients during early infancy.

CASE REPORT

We report the case of a 50-day-old girl with no apparent symptoms of muscular dystrophy who developed severe acute rhabdomyolysis caused by viral infection, resulting in quadriplegia and respiratory failure therefore requiring mechanical ventilation. Brain magnetic resonance imaging incidentally showed the typical characteristics of FCMD, and FCMD was confirmed by genetic analysis, which revealed a 3-kb retrotransposon insertion in one allele of the fukutin gene and a deep intronic splicing variant in intron 5 in another allele. The virus etiology was confirmed to be Coxsackie A4.

CONCLUSION

We report a severe case of acute rhabdomyolysis with the earliest onset of symptoms due to the Coxsackie A4 virus in a patient with FCMD. The present findings indicate that physicians should consider FCMD with viral infection a differential diagnosis if the patient presents with acute rhabdomyolysis following a fever.

摘要

背景

先天性肌营养不良症(FCMD)的特征是在婴儿早期出现全身肌肉无力、低张力和运动延迟,随着年龄的增长逐渐进展。尽管已经有报道称 FCMD 患者在感染后会出现急性横纹肌溶解症,但尚无研究调查 FCMD 患者在婴儿早期感染病毒后发生横纹肌溶解症的情况。

病例报告

我们报告了一例 50 天大的女婴,她没有明显的肌肉营养不良症状,但由于病毒感染而发生严重的急性横纹肌溶解症,导致四肢瘫痪和呼吸衰竭,因此需要机械通气。脑磁共振成像意外显示出 FCMD 的典型特征,基因分析证实了 FCMD,发现一个等位基因的 fukutin 基因中有一个 3kb 的反转座子插入,另一个等位基因的 5 号内含子中有一个深内含子剪接变异。病毒病因被确认为柯萨奇 A4。

结论

我们报告了一例 FCMD 患者因柯萨奇 A4 病毒引起的最早发病症状的严重急性横纹肌溶解症病例。本研究结果表明,如果患者发热后出现急性横纹肌溶解症,医生应考虑将其与病毒感染相鉴别诊断。

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