NDLI: Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports

Content Provider	Springer Nature : BioMed Central
Author	Avila-Smirnow, Daniela Boutron, Audrey Beytía-Reyes, María de Los Ángeles Contreras-Olea, Oscar Caicedo-Feijoo, Alfredo Gejman-Enríquez, Roger Escobar-Henríquez, Raúl Förster-Mujica, Jorge
Abstract	Background The myopathic form of carnitine palmitoyltransferase type II deficiency is an inherited autosomal recessive metabolic myopathy usually starting in childhood. Most reports have been on European and Japanese populations, and no Native South American patients have been reported to date. The p.Ser113Leu mutation is the most frequent in the European population. Only lower-leg magnetic resonance imaging findings have been reported, with gluteus maximus involvement in one case and normal imaging in other patients. Case presentation Two Native South American siblings, a boy and a girl, presented to our neuromuscular clinic with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. During episodes, their creatine kinase concentrations were markedly increased, up to 148,000 (1.48 × 105) IU/L in the boy and 18,000 (1.8 × 104) IU/L in the girl. The results of electroneuromyography and histopathology suggested a nonspecific myopathy. CPT2 gene sequencing showed two heterozygous mutations: the p.Ser113Leu variant and a novel one (predicted to be deleterious by in silico analysis), the p.Ser373Pro variant. The patients’ parents were asymptomatic carriers. Whole-body magnetic resonance imaging showed mild selective involvement in the thoracic extensors and pelvic girdle in both siblings, and in the thighs and lower legs in one of them. Dietary and bezafibrate treatment was started, and symptomatic relief was observed. Conclusions To the best of our knowledge, this is the first reported Native South American family with a CPT2 deficiency carrying a novel mutation and particular features visualized by whole-body magnetic resonance imaging.
Related Links	https://jmedicalcasereports.biomedcentral.com/counter/pdf/10.1186/s13256-018-1702-3.pdf
Ending Page	4
Page Count	4
Starting Page	1
File Format	HTM / HTML
ISSN	17521947
DOI	10.1186/s13256-018-1702-3
Journal	Journal of Medical Case Reports
Issue Number	1
Volume Number	12
Language	English
Publisher	BioMed Central
Publisher Date	2018-08-28
Access Restriction	Open
Subject Keyword	Medicine Public Health General Practice Family Medicine Primary Care Medicine Surgical Oncology Internal Medicine Rhabdomyolysis Myoglobinuria Carnitine palmitoyltransferase type II deficiency Whole-body magnetic resonance imaging Native South American Medicine/Public Health
Content Type	Text
Resource Type	Case study
Subject	Medicine
Journal Impact Factor	0.9/2023

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