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Muscle MRI in patients with long‐chain fatty acid oxidation disorders
Author(s) -
Diekman Eugene F.,
Pol W. Ludo,
Nievelstein Rutger A. J.,
Houten Sander M.,
Wijburg Frits A.,
Visser Gepke
Publication year - 2014
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-013-9666-3
Subject(s) - magnetic resonance imaging , medicine , creatine kinase , muscle biopsy , myopathy , muscle weakness , endocrinology , carnitine , mitochondrial disease , weakness , rhabdomyolysis , pathology , biopsy , biology , biochemistry , surgery , radiology , mitochondrial dna , gene
Muscle magnetic resonance imaging (MRI) is a useful tool for visualizing abnormalities in neuromuscular disorders. The value of muscle MRI has not been studied in long‐chain fatty acid oxidation (lcFAO) disorders. LcFAO disorders may present with metabolic myopathy including episodic rhabdomyolysis. Objective To investigate whether lcFAO disorders are associated with muscle MRI abnormalities. Methods Lower body MRI was performed in 20 patients with lcFAO disorders, i.e. three carnitine palmitoyltransferase 2 deficiency (CPT2D), 12 very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD), three mitochondrial trifunctional protein deficiency (MTPD) and two isolated long‐chain hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD). Results At the time of MRI, four patients had muscle weakness, 14 had muscle pain and 13 were exercise intolerant. Median creatine kinase (CK) level of patients at the day of MRI was 398 U/L (range 35‐12,483). T1W and STIR signal intensity (SI) were markedly increased in MTPD patients from girdle to lower leg. VLCADD patients showed predominantly proximal T1W SI changes, whereas LCHADD patients mostly showed distal T1W SI changes. Prominent STIR weighted signal intensity increases of almost all muscle groups were observed in patients with VLCADD and LCHADD with very high CK (>11.000) levels. Conclusions and relevance lcFAO disorders are associated with specific patterns of increased T1W and STIR signal intensity. These patterns may reflect lipid accumulation and inflammation secondary to lcFAO defects and progressive muscle damage. Future studies are needed to investigate whether muscle MRI might be a useful tool to monitor disease course and to study pathogenesis of lcFAO related myopathy.