Farina L, Bizzi A, Finocchiaro G, Pareyson D, Sghirlanzoni A, Bertagnolio B, Savoiardo M, Naidu S, Singhal B S, Wenger D A
Department of Neuroradiology, Istituto Nazionale Neurologico, Milan, Italy.
AJNR Am J Neuroradiol. 2000 Sep;21(8):1478-82.
We present the MR imaging findings in four patients (two pairs of siblings from two unrelated families) with adult Krabbe disease. In the first family, clinical presentation mimicked familial spastic paraplegia. Their MR images showed selective, increased signal intensity on T2-weighted sequences along the corticospinal tracts, most prominently in the proband and barely detectable in her brother. Proton MR spectroscopy showed increased choline and myo-inositol in the affected white matter. In the second family, the clinical presentation differed in that the signs of pyramidal tract involvement were asymmetrical, with concomitant asymmetry on MR images in one. In adults, Krabbe disease may present on MR imaging with selective pyramidal fiber involvement.
我们展示了4例成年型克拉伯病患者（来自两个无亲缘关系家庭的两对兄弟姐妹）的磁共振成像（MR）表现。在第一个家庭中，临床表现类似家族性痉挛性截瘫。他们的MR图像显示，在T2加权序列上沿皮质脊髓束有选择性的信号强度增加，在先证者中最为明显，在其兄弟中几乎检测不到。质子磁共振波谱显示受累白质中胆碱和肌醇增加。在第二个家庭中，临床表现有所不同，锥体束受累的体征不对称，其中1例的MR图像也有相应的不对称表现。在成年人中，克拉伯病在MR成像上可能表现为选择性锥体纤维受累。
