Very-late-onset multiple Acyl-coenzyme a dehydrogenase deficiency with elevated GDF-15 and Aldolase: a case report

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-18 DOI:10.1016/j.nmd.2024.105213

Rahul Gaini , Gregory Chamberlin , Shih-Hsiu J. Wang , Jonathan Morena

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引用次数: 0

Abstract

A 72-year-old woman on sertraline and levothyroxine (Levoxyl) presented to clinic with progressive proximal > distal and left > right upper and lower extremity weakness. She had length-dependent paresthesias and sensory deficits. Aldolase was elevated but CK was normal. EMG/NCS showed myopathic motor units. Muscle biopsy revealed numerous muscle fibers with markedly increased lipid content. Additional bloodwork showed elevated plasma acylcarnitine species of all chain lengths, concerning for multiple acyl-CoA dehydrogenase deficiency (MADD), along with elevated Growth Differentiation Factor 15 (GDF-15). Metabolic and mitochondrial genetic testing followed by whole exome sequencing was negative. The patient started riboflavin 400 mg daily and improved from requiring a wheelchair to independent ambulation. She was diagnosed with very-late-onset riboflavin-responsive MADD. This case adds to the growing literature on the clinical heterogeneity of VLO-MADD, comments on the potential for non-genetic, pharmacologic triggers like sertraline, and highlights that GDF-15 and aldolase can be elevated with normal CK.

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极晚期多酰基辅酶 a 脱氢酶缺乏症伴 GDF-15 和醛缩酶升高：病例报告。

一名服用舍曲林和左旋甲状腺素（Levoxyl）的 72 岁妇女因进行性近端 > 远端、左侧 > 右侧上下肢无力就诊。她有长度依赖性麻痹和感觉障碍。醛固酮酶升高，但肌酸激酶正常。肌电图/核磁共振（EMG/NCS）显示有肌病运动单位。肌肉活检发现大量肌纤维脂质含量明显增加。其他血液检查显示，血浆中所有链长的酰基肉碱种类均升高，这与多酰基-CoA脱氢酶缺乏症（MADD）有关，同时还显示生长分化因子15（GDF-15）升高。代谢和线粒体基因检测以及全外显子测序结果均为阴性。患者开始每天服用核黄素 400 毫克，从需要坐轮椅到可以独立行走。她被诊断为极晚期核黄素反应性 MADD。该病例为越来越多的关于 VLO-MADD 临床异质性的文献增添了新的内容，评论了舍曲林等非遗传性药物诱因的可能性，并强调了 GDF-15 和醛缩酶可以在 CK 正常的情况下升高。

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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来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.