Myopathy type very long-chain acyl coenzyme A dehydrogenase deficiency： two cases report / 中华神经科杂志

ABSTRACT

This article reported two cases of myopathy type very long-chain acyl coenzyme A dehydrogenase deficiency patients, whose clinical manifestations were mainly repeated rhabdomyolysis. In case 1, with fluctuating muscle weakness and myalgia, pathology of skeletal muscle biopsy showed a small amount of degenerative and necrotic muscle fibers, and some muscle fibers had slightly increased fat components. ACADVL gene complex heterozygous mutation was found by second-generation sequencing. Case 2 showed increased polyacylcarnitine and decreased free carnitine by tandem mass spectrometry. Clinical onset muscle weakness, muscle pain and repeat rhabdomyolysis suggested to consider myopathy type very long-chain acyl coenzyme A dehydrogenase deficiency. Because of no specific performance in lower limb muscle magnetic resonance imaging and skeletal muscle biopsy pathology, the case needed to be differentiated from other metabolic myopathy, and tandem mass spectrometry detection and the second generation sequencing are helpful to diagnosis and differential diagnosis.