Title
Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Bruxelles ,
Subject
Human medicine
Source (journal)
Acta neurologica Belgica. - Bruxelles
Volume/pages
108(2008) :4 , p. 155-160
ISSN
0300-9009
2240-2993
ISI
000263358900008
Carrier
E
Target language
English (eng)
Affiliation
University of Antwerp
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 rhabdo myolysis, especially when provoked by minor causes, a thorough work-up for a possible metabolic myopathy is mandatory.
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