A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

Pediatr Radiol. 2012 Mar;42(3):380-2. doi: 10.1007/s00247-011-2156-6. Epub 2011 Jun 29.

Abstract

We present a 5-year-old girl who was ultimately diagnosed with Sjögren-Larsson syndrome (SLS). Although her MRI findings were minimal compared to previously published cases, prominent and characteristic abnormal lipid peaks on single-voxel proton MR spectroscopy ((1)H-MRS) facilitated the diagnosis. This case emphasizes the importance and usefulness of (1)H-MRS in diagnosing SLS.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Protons
  • Sensitivity and Specificity
  • Sjogren-Larsson Syndrome / diagnosis*
  • Spectrum Analysis / methods

Substances

  • Protons