From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency

Abstract

Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challenging but is essential for the correct treatment. Carnitine palmitoytransferase II (CPT-II) deficiency is the most common long-chain fatty acid oxidation defect, with the adulthood form requiring additional external triggers. The authors present a case of a young-male adult with recurrent episodes of rhabdomyolysis, one of them presented with acute renal failure and acute hepatitis. The diagnostic is demanding, which requires a high level of suspicion. The adequate treatment of these patients improves the muscle function and prevents other episodes of severe rhabdomyolysis.

Keywords: CPT II deficiency; acute renal failure; hepatitis; rhabdomyolysis.

Fig. 1

Normal fiber variability, identifying a single basophil fiber (HE, 200x).

Fig. 2

A. Slight accumulation of lipid droplets in the sarcoplasm (Oil Red O, 200x); B. Detail of slight accumulation of lipid droplets in the sarcoplasm (Oil Red O, 400x).

Fig. 3

Absence of abnormal glycogen accumulation. There is normal myophosphorylase activity and NADH, SDH and COX enzymatic activity (not shown) (PAS, 200x).