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Journal of Pediatric Neurology 2012; 10(03): 215-219
DOI: 10.3233/JPN-2012-0563
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Magnetic resonance spectroscopy findings in two siblings with L-2-hydroxyglutaric aciduria

Authors

  • Naomi O. Hersey

    a   Department of Radiology, Sheffield Children's Hospital NHS Trust, Sheffield, UK

  • Ian J. Craven

    a   Department of Radiology, Sheffield Children's Hospital NHS Trust, Sheffield, UK

  • Daniel J. Connolly

    a   Department of Radiology, Sheffield Children's Hospital NHS Trust, Sheffield, UK

  • Mark Sharrard

    b   Department of Pediatrics, Sheffield Children's Hospital NHS Trust, Sheffield, UK

  • Iain D. Wilkinson

    c   Academic Unit of Radiology, University of Sheffield, Sheffield, UK

Subject Editor:
Further Information

Publication History

14 November 2011

13 February 2012

Publication Date:
30 July 2015 (online)

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Abstract

We present two pediatric siblings with L-2-hydroxyglutaric aciduria. The older sibling was scanned at ages 4 years 2 months and 5 years 6 months. The younger sibling was scanned at age 4 years 4 months. The magnetic resonance spectroscopy for each child was compared to age-matched controls. In both of our cases, lower N-acetyl-aspartate (NAA)/choline and NAA/creatine ratios are attributed to low NAA signal, as seen in previous reports. However, in conflict to other reports, no peak was demonstrated in the 2.50 ppm range. This may reflect the longer echo times (echo time=144 ms) used in our studies compared to those of earlier reports. This is important as it highlights the impact of echo time on magnetic resonance spectroscopy appearances in this condition and indicates that more spectral information is required.

Keywords

L-2-hydroxyglutaric aciduria - magnetic resonance spectroscopy