2 例中国人胆固醇 27-羟化酶基因缺失致脑腱黄瘤病
2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.
机构信息
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 6 Tiantan Xili, Chongwen District, Beijing 100050, China.
出版信息
BMC Neurol. 2011 Oct 21;11:130. doi: 10.1186/1471-2377-11-130.
BACKGROUND
Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX).
CASE PRESENTATION
A 36-year-old female with typical CTX clinical manifestation had Spindle-shaped lipid crystal clefts in xanthomas and "onion-like demyelination" in sural nerve. The patient was compound heterozygote carrying two deletions in exon 1 (c.73delG) and exon 2 (c.369_375delGTACCCA). The family memebers were carriers.
CONCLUSIONS
A Chinese family with Cerebrotendinous Xanthomatosis had typical clinical manifestation. CYP27A1 mutations were found in the proband and all other family members.
背景
脑腱黄瘤病（CTX）是一种罕见的脂质贮积病。我们研究了一个中国脑腱黄瘤病（CTX）家系的临床表现、组织病理学和固醇 27-羟化酶基因（CYP27A1）。
病例介绍
一位 36 岁的女性具有典型的 CTX 临床表现，黄色瘤中有梭形脂晶裂隙，腓肠神经有“洋葱样脱髓鞘”。患者是复合杂合子，携带外显子 1（c.73delG）和外显子 2（c.369_375delGTACCCA）的两处缺失。家系成员为携带者。
结论
一个中国脑腱黄瘤病家系具有典型的临床表现。在先证者和所有其他家族成员中均发现 CYP27A1 突变。
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