Roi Dylan, Mankad Kshitij, Kaliakatsos Marios, Cleary Maureen, Manzur Adnan, D'Arco Felice
Great Ormond Street Hospital, UK.
Great Ormond Street Hospital, UK
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.
克拉伯病（KD）和异染性脑白质营养不良（MLD）均为溶酶体贮积症，具有一些共同的MRI特征。在有助于两者鉴别的影像学表现中，视交叉/神经增粗被描述为支持KD的鉴别诊断的特异性关键特征。我们报告了首例经基因确诊的MLD患者出现视神经和视交叉增大的病例。
