Affiliations: Department of Radiology, Sheffield Children's Hospital
NHS Trust, Sheffield, UK | Department of Pediatrics, Sheffield Children's
Hospital NHS Trust, Sheffield, UK | Academic Unit of Radiology, University of Sheffield,
Sheffield, UK
Note: [] Correspondence: Dr. Naomi O. Hersey, Level C, Royal Hallamshire
Hospital,Glossop Road, Sheffield, S10 2JF, UK. Tel.: +44 7740336190; E-mail:
naomi.hersey@sth.nhs.uk
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
