Abstract
BackgroundLate-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 presentationAn 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.ConclusionsMADD should be considered when evaluating elderly patients with subacute muscle weakness.
Highlights
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy
MADD is difficult to diagnose in elderly patients and may be missed without a muscle biopsy [2]
We describe a case of elderly-onset MADD mimicking myositis, highlighting the need to be alert for hereditary myopathy, especially MADD, as a differential diagnosis of myositis in elderly patients
Summary
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare and treatable inherited lipid storage myopathy. Conclusions: MADD should be considered when evaluating elderly patients with subacute muscle weakness. MADD is difficult to diagnose in elderly patients and may be missed without a muscle biopsy [2]. We describe a case of elderly-onset MADD mimicking myositis, highlighting the need to be alert for hereditary myopathy, especially MADD, as a differential diagnosis of myositis in elderly patients.
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