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Background
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) comprises a number of mitochondrial disorders with a wide range of clinical presentations. 1 Common symptoms in childhood follow a period of normal development and include muscle weakness, fatigue, recurrent migraine-like headaches, bowel problems, seizures and neuropsychological deficits. Stroke-like episodes often begin before the age of 40. 2 We present the case of a 32-year-old patient with an m.3243A>T mitochondrial DNA mutation who presented with rhabdomyolysis after 2 days of excessive physical work.
Case presentation
A 32-year-old man reported with muscle ache in arms and legs after 2 days of excessive labour. The pain first occurred after a few hours of continuous work and persisted after returning home. At the same time, the patient noticed a darkening of his urine. The symptoms worsened during the following day and our patient experienced a pain in his right flank.
On clinical examination the patient had not shown any objective weakness or sensory loss. Neuropsychological and cognitive functions were normal. Reflexes in his arms and legs were normal. Serum creatine kinase was elevated to 23 360 U/l (reference <170 U/l) on the first day after admission and decreased to 10 080 U/l on the second day. The level normalised during the next 2 weeks. There was myoglobinuria. Electromyographic and nerve conduction studies revealed an increased insertion activity and small, polyphasic potentials with short duration...