植入人工耳蜗后的急性近端乏力:儿童核黄素转运体缺乏症

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引用次数: 0

摘要

背景核黄素转运体缺乏症(RTD)是一种可治疗的进行性神经退行性疾病,其症状包括乏力、共济失调和神经听觉丧失。核黄素一旦转化为黄素辅助因子,就会在氧化还原代谢反应中发挥关键作用。与传统的线粒体疾病类似,压力也可能成为疾病进展的诱因。病例介绍 患者是一名 3 岁女孩,最初发育正常,但在 20 个月大时因感音神经性耳聋而出现语言退化。一年后,患者在接受人工耳蜗植入手术后急性发作非对称性近端无力。所有代谢、免疫和神经影像学检查均正常。连续的肌电图检查显示,上肢轴索感觉运动神经病进展迅速。为了寻找可治疗的病症,患者开始服用核黄素,后来发现了 SLC52A2 的复合杂合致病变体。
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Acute proximal weakness after cochlear implant: Riboflavin transporter deficiency onset in child

Background

Riboflavin transporter deficiencies (RTDs) are treatable progressive neurodegenerative disorders that present with symptoms including weakness, ataxia and neurosensory hearing loss. Once converted to the flavin cofactor, riboflavin plays a pivotal role in redox metabolic reactions. Similarly to classical mitochondrial diseases, stress may act as a trigger for disease progression.

Case presentation

The subject is a 3-year-old girl with initially normal development who experienced language regression due to sensorineural deafness at 20 months old. One year later, the patient experienced an acute episode of asymmetric proximal weakness following cochlear implant surgery. All metabolic, immunological, and neuroimaging studies were normal. Serial electromyography studies revealed a rapidly progressive axonal sensory-motor neuropathy affecting the upper limbs. In search of treatable conditions, riboflavin was initiated, and later on, compound heterozygous pathogenic variants in SLC52A2 were identified.

Conclusion

This report describes the clinical and electromyography findings of this patient during the four years following diagnosis.
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