Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation
Faculty of Medicine and Health Sciences
Acta neurologica Belgica. - Bruxelles
, p. 155-160
University of Antwerp
A case is reported of a 39-year-old woman with recurrent rhabdomyolysis caused by minor S. pyogenes tonsillitis. She was diagnosed with the adult form of CPT-II deficiency. Molecular analysis revealed compound heterozygosity for a common c.338C > T (p.Ser113Leu) mutation in exon 3 and a most likely pathogenic c.200C > G (p.Ala67Gly) variant in exon 2. Here we discuss the case, along with a clinical review of rhabdomyolysis and adult CPT-II deficiency. When a patient presents with recurrent episodes of rhabdo myolysis, especially when provoked by minor causes, a thorough work-up for a possible metabolic myopathy is mandatory.