3.8 Article

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

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NEURORADIOLOGY JOURNAL
卷 29, 期 2, 页码 134-136

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SAGE PUBLICATIONS INC
DOI: 10.1177/1971400916633479

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Metachromatic leucodystrophy; Krabbe's disease; magnetic resonance imaging; cranial nerves enhancement; optic nerves; lysosomal storage diseases

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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.

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