Acute Kidney Injury and Extreme Rhabdomyolysis due to Carnitine Palmitoyltransferase II Deficiency: A Case Report.
Elif Burma
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Case in brief
A 47-year-old man presented with influenza-like symptoms and rapidly developed extreme rhabdomyolysis, with creatine kinase >126,800 IU/L, dark urine, metabolic acidosis, multiorgan dysfunction, and acute kidney injury requiring renal replacement therapy. Continuous renal replacement therapy was started in intensive care, followed by gradual clinical improvement. A detailed family history led to genetic testing, which identified a homozygous pathogenic CPT2 mutation (p.Ser113Leu), confirming stress-induced myopathic carnitine palmitoyltransferase II deficiency.
What made this case unusual
An infectious-like illness preceded extreme rhabdomyolysis and severe acute kidney injury as the presenting manifestation of genetically confirmed CPT II deficiency in adulthood.
Diagnostic / clinical pearl
Consider an inherited metabolic myopathy when unexplained, extreme creatine kinase elevation and acute kidney injury occur, particularly alongside an infectious trigger; family history may help prompt genetic evaluation.