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
Abstract
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.
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.