极晚发型多酰基辅酶A脱氢酶缺乏症与舍曲林的使用:1例报告。

Q3 Medicine
Allison R Valerius, Thapat Wannarong, Sofia Rael, Camilo Bermudez, Rafid Mustafa, Scott Eggers, Margherita Milone, Teerin Liewluck, Marcus V Pinto
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引用次数: 0

摘要

目的:多酰基辅酶A脱氢酶缺乏症(MADD)是一种罕见的,但可治疗的脂肪酸β氧化障碍,临床表现从新生儿到非常晚发的形式。极晚发性MADD通常没有可识别的基因突变,与舍曲林暴露有关。方法:我们报告一例极晚发性MADD,基因检测阴性,可能与使用舍曲林有关。结果:一名75岁女性,有3年进行性、近端显性无力、吞咽困难和构音障碍病史。检查显示严重的轴肢和近端主肢无力。实验室研究显示多种酰基肉碱升高。肌肉活检显示脂质储存性肌病。综合基因检测为阴性。舍曲林的使用被认为是潜在的诱因。用核黄素、辅酶Q10和左卡尼汀治疗,同时停用舍曲林,在几周内导致临床迅速改善。讨论:这个病例支持了最近的发现,舍曲林可能与非常晚发性MADD有关。对于舍曲林治疗的伴有不明原因虚弱的患者,神经科医生应保持对MADD的高度怀疑,因为及时启动核黄素对力量恢复至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Very-Late Onset Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline Use: A Case Report.

Objectives: Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare, yet treatable, disorder of fatty acid β-oxidation with clinical presentations ranging from neonatal to very-late-onset forms. Very-late-onset MADD often has no identifiable genetic mutations and has been linked to sertraline exposure.

Methods: We report a case of very late-onset MADD with negative genetic testing, potentially associated with sertraline use.

Results: A 75-year-old woman presented with 3-year history of progressive, proximal-predominant weakness, dysphagia, and dysarthria. Examination revealed severe axial and proximal-predominant limb weakness. Laboratory studies showed elevation of multiple acylcarnitines. Muscle biopsy demonstrated a lipid storage myopathy. Comprehensive genetic testing was negative. Sertraline use was identified as a potential trigger. Treatment with riboflavin, coenzyme Q10, and levocarnitine, along with discontinuation of sertraline, led to rapid clinical improvement within weeks.

Discussion: This case supports the recent findings that sertraline can be associated with very-late-onset MADD. Neurologists should maintain a high index of suspicion for MADD in sertraline-treated patients with unexplained weakness because prompt initiation of riboflavin is crucial for strength recovery.

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来源期刊
CiteScore
1.60
自引率
0.00%
发文量
64
期刊介绍: Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who treat patients with neuromuscular diseases, including disorders of the motor neuron, peripheral nerves, neuromuscular junction, muscle, and autonomic nervous system. Each issue highlights the most advanced and successful approaches to diagnosis, functional assessment, surgical intervention, pharmacologic treatment, rehabilitation, and more.
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