Late onset multiple acyl-CoA dehydrogenase deficiency (MADD) myopathy misdiagnosed as polymyositis


Lipid-storage myopathy (LSM) is a heterogeneous group of lipid metabolic disorders characterised by impaired oxidation of fatty acids, in which several metabolic enzyme deficiency, like multiple acyl-CoA dehydrogenase deficiency (MADD), can interfere with lipid catabolism, leading to an accumulation of lipids in muscle fibres. We present a patient affected by a late onset MADD myopathy misdiagnosed for several years as polymyositis unresponsive to immunosuppressant therapies. The first symptoms started in his 40s with a slow progressive fatigability associated with occasional cramps in the calves; initial investigations showed high CPK level (1000–1500 UI/L) without significant anomaly on muscle biopsy.


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