Kuriyama M, Fujiyama J, Yoshidome H, Takenaga S, Matsumuro K, Kasama T, Fukuda K, Kuramoto T, Hoshita T, Seyama Y
Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.
J Neurol Sci. 1991 Apr;102(2):225-32. doi: 10.1016/0022-510x(91)90073-g.
We present the clinical and laboratory findings of 8 patients with cerebrotendinous xanthomatosis. The clinical features consisted of a combination of bilateral Achilles tendon xanthomas, cataracts, low intelligence, pyramidal signs, cerebellar signs, convulsions, peripheral neuropathy, foot deformity, cardiovascular disease or atherosclerosis, EEG abnormality, and increased CSF protein. Increased cholesterol was present in the serum, CSF and red cell membrane of all 8 patients. The bile of one patient with late age onset of the disease showed an attenuated production of bile acids and bile alcohols. Three of the 7 had obstruction and/or marked narrowing of the coronary arteries. Data on 136 patients reported throughout the world are reviewed.
我们报告了8例脑腱性黄瘤病患者的临床和实验室检查结果。临床特征包括双侧跟腱黄瘤、白内障、智力低下、锥体束征、小脑征、惊厥、周围神经病变、足部畸形、心血管疾病或动脉粥样硬化、脑电图异常以及脑脊液蛋白升高。所有8例患者的血清、脑脊液和红细胞膜中胆固醇均升高。1例发病较晚的患者胆汁中胆汁酸和胆汁醇的生成减少。7例患者中有3例存在冠状动脉阻塞和/或明显狭窄。我们还回顾了世界各地报告的136例患者的数据。
