Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation

Acta Neurol Belg. 2008 Dec;108(4):155-60.

Abstract

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 rhabdomyolysis, especially when provoked by minor causes, a thorough work-up for a possible metabolic myopathy is mandatory.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Carnitine O-Palmitoyltransferase / genetics*
  • Female
  • Humans
  • Muscles / physiopathology*
  • Mutation, Missense*
  • Recurrence
  • Rhabdomyolysis / etiology*
  • Sequence Analysis, DNA
  • Streptococcal Infections / complications
  • Streptococcus pyogenes

Substances

  • Carnitine O-Palmitoyltransferase