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Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS

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JIMD Reports, Volume 28

Part of the book series: JIMD Reports ((JIMD,volume 28))

Abstract

The majority of lipids in the brain are located in the bilayer membranes. These lipids are not visible by magnetic resonance spectroscopy since they have restricted mobility. Only mobile lipids, such as cholesterol esters or triglycerides in neutral lipid droplets, have enough rotational freedom to generate a signal on spectroscopy. These signals are detected as peaks at 1.3 ppm, originating from the methylene groups in the fatty acid chain, and 0.9 ppm, originating from the distal methyl group. We review the literature on the different genetic conditions that have been found to show lipid peaks on brain spectroscopy and report the first patient with carnitine palmitoyltransferase 2 deficiency shown to have such lipid peaks, thus indicating brain fat accumulation.

Competing interests: None declared

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Author information

Authors and Affiliations

  1. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

    Carlos R. Ferreira (Office of the Clinical Director)

  2. Department of Pediatrics, University of Maryland Medical Center, Baltimore, MD, USA

    Molly H. Silber

  3. Division of Neurophysiology, Epilepsy and Critical Care, Children’s National Health System, Washington, DC, USA

    Taeun Chang

  4. Division of Diagnostic Imaging and Radiology, Children’s National Health System, Washington, DC, USA

    Jonathan G. Murnick

  5. Division of Genetics and Metabolism, Children’s National Health System, Washington, DC, USA

    Brian Kirmse

Authors
  1. Carlos R. Ferreira
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  2. Molly H. Silber
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  3. Taeun Chang
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  4. Jonathan G. Murnick
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  5. Brian Kirmse
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Corresponding author

Correspondence to Carlos R. Ferreira .

Editor information

Editors and Affiliations

  1. Tulane University Medical School , New Orleans, Louisiana, USA

    Eva Morava

  2. Division of Metabolism and Children’s Research Centre, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Jean-Marie Saudubray

Appendices

Synopsis

Patients with long-chain fatty acid β-oxidation disorders in acute crisis can present with cerebral fat accumulation that is detectable by MR spectroscopy.

Compliance with Ethics Guidelines

Conflicts of Interest

Carlos R. Ferreira, Molly H. Silber, Taeun Chang, Jonathan G. Murnick, and Brian Kirmse declare that they have no conflict of interest.

Details of the Contributions of Individual Authors

  • Writing and preparation of the manuscript: CRF, MHS, and JGM

  • Clinical management and investigation of the patient: TC and BK

  • Detailed review of the patient’s brain imaging: JGM

  • Critical review of the manuscript: All authors

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© 2015 SSIEM and Springer-Verlag Berlin Heidelberg

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Ferreira, C.R., Silber, M.H., Chang, T., Murnick, J.G., Kirmse, B. (2015). Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 28. JIMD Reports, vol 28. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_506

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  • DOI: https://doi.org/10.1007/8904_2015_506

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-52846-4

  • Online ISBN: 978-3-662-52847-1

  • eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)

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