van Hellenberg Hubar J L, Joosten E M, Wevers R A
Department of Neurology and Clinical Neurophysiology, University Hospital, Leiden, The Netherlands.
Clin Neurol Neurosurg. 1992;94 Suppl:S165-7. doi: 10.1016/0303-8467(92)90059-c.
Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. Predominant clinical features are a chronic progressive neurological syndrome, mental deterioration, bilateral cataract and xanthomas. The presence of xanthomas usually leads to the diagnosis, and the reverse is probably also true: without xanthomas the diagnosis will often not be made. CTX may therefore be less rare than commonly thought, and the incidence of xanthomas in CTX may be overestimated. Four cases without xanthomas among the presenting symptoms are described, and the relevance of xanthomas in CTX is discussed.
脑腱黄瘤病（CTX）是一种基于涉及胆汁酸合成的先天性代谢缺陷的家族性固醇贮积病。主要临床特征为慢性进行性神经综合征、智力衰退、双侧白内障和黄瘤。黄瘤的存在通常可导致诊断，反之可能也成立：没有黄瘤往往无法做出诊断。因此，CTX可能并不像通常认为的那么罕见，且CTX中黄瘤的发病率可能被高估。本文描述了4例首发症状中无黄瘤的病例，并讨论了黄瘤在CTX中的相关性。
