期刊
NEURORADIOLOGY JOURNAL
卷 29, 期 2, 页码 134-136出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/1971400916633479
关键词
Metachromatic leucodystrophy; Krabbe's disease; magnetic resonance imaging; cranial nerves enhancement; optic nerves; lysosomal storage diseases
类别
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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