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

UDK: 616.153.857-056.7

Malinovska-Nikolovska L1,2, Chadikovski V1,2, Manoleva M3, Stojanovik V1, Krmzova-Gorgioska M1,Stojkovski Lj4

 

1Department of Pediatric Cardiac Surgery, Acibademsistina Clinical Hospital, Skopje

2Faculty of Medical Sciences, “GoceDelchev” University, Shtip, Republic of North Macedonia

3University Clinic for Physical Medicine and Rehabilitation, Skopje

4Department of Nephrology, Acibademsistina Clinical Hospital, Skopje

 

Abstract

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 therapypromptlystarted, hemodiafiltration, respiratory and cardiovascular support if needed.

 

Key words:Carnitine palmitoyl transferase; multi organ failure;renal failure;rhabdomyolysis

 

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