Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding

Neuroradiol J. 2016 Apr;29(2):134-6. doi: 10.1177/1971400916633479. Epub 2016 Feb 25.


Krabbe's disease (KD) and metachromatic leucodystrophy (MLD) are both lysosomal storage disorders that share some common MRI features. Amongst the imaging findings useful to distinguish one from the other, optic chiasm/nerves thickening have been described as specific key features for differential diagnosis favouring KD. We report the first case of enlargement of the optic nerves and chiasm described in a patient with genetically confirmed MLD.

Keywords: Krabbe’s disease; Metachromatic leucodystrophy; cranial nerves enhancement; lysosomal storage diseases; magnetic resonance imaging; optic nerves.

Publication types

  • Case Reports

MeSH terms

  • Cauda Equina / diagnostic imaging
  • Child, Preschool
  • Female
  • Humans
  • Leukodystrophy, Metachromatic / diagnostic imaging*
  • Leukodystrophy, Metachromatic / pathology*
  • Magnetic Resonance Imaging*
  • Optic Nerve / diagnostic imaging*
  • Optic Nerve / pathology*
  • Thalamus / diagnostic imaging
  • Thalamus / pathology