We report on a 5-year-old boy with recurrent severe postinfectious rhabdomyolysis who, after systematic stepwise evaluation, was found to have the adult form of carnitine palmityl transferase II (CPT II) deficiency directly by blood mutation analysis. Timely diagnosis of CPT II deficiency in this case prevented further potentially devastating episodes of rhabdomyolysis by avoiding triggering factors.
Conclusion: Although most cases of rhabdomyolysis are nonrecurrent and benign, a metabolic myopathy, such as CPT II deficiency, should be suspected in children with episodic muscle necrosis and paroxysmal myoglobinuria.