Waterreus R J, Koopman B J, Wolthers B G, Oosterhuis H J
Department of Neurology, University Hospital, Groningen, The Netherlands.
Clin Neurol Neurosurg. 1987;89(3):169-75. doi: 10.1016/s0303-8467(87)80050-1.
The clinical features and additional investigations of 20 Dutch patients suffering from cerebrotendinous xanthomatosis (CTX), an inborn error of metabolism in bile acid synthesis, are described. The onset was in the second or third decade. The clinical picture at the time of examination consisted of a combination of two or more of the following signs: cataract, xanthoma of a tendon, mental deterioration, pyramidal tract signs, cerebellar signs and epilepsy. Mental retardation was reported in patients. CT-scanning showed cerebellar hypodensity in 8 out of 16 patients but this feature did not correlate well with cerebellar signs. The EEG was abnormal in all but one patient. Treatment with chenodeoxycholic acid resulted in a normalization of EEG and biochemical abnormalities but not of the clinical signs. Cholic acid was equally effective but had much less side effects. The importance of a diagnosis in early life is stressed as well as the examination of clinically unaffected heterozygous relatives.
本文描述了20例患有脑腱性黄瘤病（CTX）的荷兰患者的临床特征及进一步检查情况，CTX是一种胆汁酸合成的先天性代谢缺陷病。发病年龄在二三十岁。检查时的临床表现为以下两种或更多体征的组合：白内障、肌腱黄瘤、智力衰退、锥体束征、小脑体征和癫痫。有患者报告存在智力发育迟缓。CT扫描显示，16例患者中有8例小脑密度减低，但该特征与小脑体征的相关性不佳。除1例患者外，所有患者的脑电图均异常。用鹅去氧胆酸治疗可使脑电图和生化异常恢复正常，但临床体征未改善。胆酸同样有效，但副作用小得多。强调了早期诊断的重要性以及对临床上未受影响的杂合子亲属进行检查的重要性。
