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.
© The Author(s) 2016.