Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Clin Genet. 2012 Jan;81(1):24-8. doi: 10.1111/j.1399-0004.2011.01793.x. Epub 2011 Oct 16.
Two unrelated individuals were referred to Lipid Clinics in The Netherlands and Chile with extreme xanthomatosis and hypercholesterolemia. Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein (LDL) receptor gene. Since heFH by itself could not account for the massive xanthomas, the presence of an additional hereditary lipid or lipoprotein disorder was suspected. Further genetic analysis revealed homozygozity for mutations in the sterol 27-hydroxylase gene, confirming the diagnosis of cerebrotendinous xanthomatosis (CTX). Markedly, the typical neurological manifestations of CTX were absent, suggestive of a protective role of LDL-receptor deficiency against the severe neurological consequences of CTX.
两名无关联的个体因严重的黄瘤病和高胆固醇血症，分别在荷兰和智利的血脂诊所就诊。经低密度脂蛋白（LDL）受体基因的分子遗传学分析，这两人均被诊断为杂合子家族性高胆固醇血症（heFH）。由于单纯 heFH 不能解释大量的黄瘤，故怀疑存在另一种遗传性脂质或脂蛋白疾病。进一步的基因分析显示甾醇 27-羟化酶基因突变的纯合子，确诊为脑腱黄瘤病（CTX）。显著的是，CTX 的典型神经表现缺失，提示 LDL 受体缺乏对 CTX 严重神经后果的保护作用。
