Respiratory and renal dysfunctions due to lipid storage metabolic myopathy: case report

Abstract

We report a case of a 26-years old male patient with rhabdomyolisis with myoglobinuria associated with acute renal and respiratory failure, that occurred three days after upper airway infection. In the clinical and laboratory investigation of the patient, including electromyography and muscular biopsy, the diagnostic lead to a metabolic myopathy due to an enzymatic deficiency related to a disorder of lipid metabolism. The patient improved successfully with institution of advanced life support, including ventilatory assistence, dialysis, dietary adjust and L-carnitine reposition.

lipid metabolism; glycogen metabolism; rhabdomyolysis; myoglobinuria; metabolic myopathy; carnitine palmityl transferase deficiency