Hatanaka I, Yasuda H, Hidaka H, Harada N, Kobayashi M, Okabe H, Matsumoto K, Hukuda S, Shigeta Y
Third Department of Medicine, Shiga University of Medical Science, Japan.
Ann Neurol. 1990 Sep;28(3):390-3. doi: 10.1002/ana.410280316.
A 48-year-old woman with a 30-year history of tendinous xanthomatosis developed paraplegia. The magnetic resonance image revealed extramedullary tumors. The analysis of her sera and tumors revealed increased amount of plant sterols, especially sitosterol, and the diagnosis of sitosterolemia was made. This is the first reported case of a patient with sitosterolemia who had the neurological complication of spinal cord compression due to extramedullary sitosterolemic xanthomas.
一名患有肌腱黄色瘤病30年的48岁女性出现截瘫。磁共振成像显示髓外肿瘤。对她的血清和肿瘤进行分析发现植物甾醇，尤其是谷甾醇的含量增加，从而确诊为谷甾醇血症。这是首例报道的谷甾醇血症患者因髓外谷甾醇血症性黄色瘤导致脊髓压迫神经并发症的病例。
