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Muscle MRI in patients with long-chain fatty acid oxidation disorders.
J Inherit Metab Dis. 2014 May; 37(3):405-13.JI

Abstract

INTRODUCTION

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.

Authors+Show Affiliations

Department of Paediatric Gastroenterology and Metabolic Diseases, Wilhelmina Children's Hospital, UMC Utrecht, KC 03.063.0, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24305961

Citation

Diekman, Eugene F., et al. "Muscle MRI in Patients With Long-chain Fatty Acid Oxidation Disorders." Journal of Inherited Metabolic Disease, vol. 37, no. 3, 2014, pp. 405-13.
Diekman EF, van der Pol WL, Nievelstein RA, et al. Muscle MRI in patients with long-chain fatty acid oxidation disorders. J Inherit Metab Dis. 2014;37(3):405-13.
Diekman, E. F., van der Pol, W. L., Nievelstein, R. A., Houten, S. M., Wijburg, F. A., & Visser, G. (2014). Muscle MRI in patients with long-chain fatty acid oxidation disorders. Journal of Inherited Metabolic Disease, 37(3), 405-13. https://doi.org/10.1007/s10545-013-9666-3
Diekman EF, et al. Muscle MRI in Patients With Long-chain Fatty Acid Oxidation Disorders. J Inherit Metab Dis. 2014;37(3):405-13. PubMed PMID: 24305961.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Muscle MRI in patients with long-chain fatty acid oxidation disorders. AU - Diekman,Eugene F, AU - van der Pol,W Ludo, AU - Nievelstein,Rutger A J, AU - Houten,Sander M, AU - Wijburg,Frits A, AU - Visser,Gepke, Y1 - 2013/12/05/ PY - 2013/09/02/received PY - 2013/11/20/accepted PY - 2013/11/12/revised PY - 2013/12/6/entrez PY - 2013/12/7/pubmed PY - 2015/2/24/medline SP - 405 EP - 13 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 37 IS - 3 N2 - INTRODUCTION: 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. SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/24305961/Muscle_MRI_in_patients_with_long_chain_fatty_acid_oxidation_disorders_ L2 - https://doi.org/10.1007/s10545-013-9666-3 DB - PRIME DP - Unbound Medicine ER -