RHABDOMYOLYSIS AND MULTIORGAN FAILURE CAUSED BY CARNITINE PALMITOYL TRANSFERASE TYPE 2 DEFICIENCY

Background: Carnitine palmitoyl transferase 2 (CPT-2) deficiency is the most common inherited disorder of long chain fatty acid mitochondrial transport, and the cause of recurrent rhabdomyolysis in children and adults. Case presentation: Here we present a case of a six-years-old child with severe rhabdomyolysis, where multiorgan failure (renal, hepatic, respiratory, cardiovascular, neurological) occurred and full multiple organ intensive care unit support was needed. A CPT 2 deficiency was established with genetic testing. Conclusions: A suspicion of CPT deficit should always be present, in case of elevated levels of creatinine kinase and rhabdomyolysis, with early rehydration therapy promptly started, hemodiafiltration, respiratory and cardiovascular support if needed.