Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation.
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.
van den Ameele
Jelle
J
Department of Neurology, Sint-Augustinus Hospital, Antwerp, Belgium. Jelle.vandenAmeele@UGent.be
Van Landegem
William
W
Wuyts
Wim
W
De Bleecker
Jan
J
D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D006801:Humans; D009132:Muscles / Q000503:physiopathology*; D020125:Mutation, Missense; D012008:Recurrence; D012206:Rhabdomyolysis / Q000209:etiology*; D017422:Sequence Analysis, DNA; D013290:Streptococcal Infections / Q000150:complications; D013297:Streptococcus pyogenes
D002334:Carnitine O-Palmitoyltransferase