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Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report
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Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report
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Journal Article
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report
2020
Overview
Background
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Here, we report an elderly patient with MADD mimicking myositis.
Case presentation
An 80-year-old woman had progressive weakness in her limbs, exercise intolerance, and no muscle pain for 3 months. The patient’s serum creatine kinase level was slightly elevated. The initial diagnosis was myositis. However, muscle biopsy showed many cytoplasmic vacuoles stained with oil red O, indicating the presence of lipid storage myopathy. The plasma acylcarnitine profile showed increased medium-chain and long-chain acylcarnitine species, consistent with the diagnosis of MADD. Riboflavin treatment dramatically improved muscle weakness.
Conclusions
MADD should be considered when evaluating elderly patients with subacute muscle weakness.
Publisher
BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
Subject
/ Acyl-CoA dehydrogenase deficiencies
/ Biopsy
/ Consent
/ Creatine
/ Edema
/ Ethics
/ Female
/ Funding
/ Humans
/ Lipids
/ MADD
/ Medicine
/ Mimicry
/ Multiple Acyl Coenzyme A Dehydrogenase Deficiency - complications
/ Multiple Acyl Coenzyme A Dehydrogenase Deficiency - diagnosis
/ Multiple Acyl Coenzyme A Dehydrogenase Deficiency - drug therapy
/ Myopathy
/ Myositis
/ Neuromuscular disorders and peripheral neurology
/ Patients
/ Riboflavin - therapeutic use
/ Vacuoles
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