脑腱黄瘤病1例病例报告并文献复习

摘要

Objective To summarize and review the clinical data of an infant diagnosed as cerebrotendinous xanthomatosis (CTX) so as to identify the disease early and improve our understanding of cholestasis.Methods Clinical features of a 2-months old girl in cholestatic jaundice was reported at onset.Bile duct exploration and laboratory examinations were taken and she was finally diagnosed as CTX by urinary acid mass spectrometry analysis and CYP27A1 gene detection.Clinical features of similar cases from published literatures were retrieved and systematically summarized.Results A 2-months old girl was admitted to our hospital due to jaundice from one week after birth.Laboratory findings showed cholestasis jaundice,normal or mildly elevated TBA,mildly elevated GGT and TCH.Biliary atresia was excluded by bile duct exploration.Absence of cholesterol-27-hydroxylase activity measured by Urinary bile acid mass spectrometry analysis and pathogenic compound heterozygous mutations of CYP27A1 gene:p.R127W(c.379C ＞C/T)and p.Qll6X(c.346C ＞ C/T) were found and CTX was confirmed.She received cholic acid tablets therapy.Follow up was carried out for 9 months after discharging from the hospital,her jaundice faded and she had no discomfort.Three related literatures concerning CTX with cholestatic jaundice onset were searched with Pubmed database.Combined with this case,common manifestations were cholestasis jaundice of the second-third months after birth,normal or mildly elevated GGT,mildly elevated TBA and TCH.Conclusion CTX reports on the onset of cholestasis in infancy are extremely rare.It should be considered the possibility of this disease when normal or mildly elevated TBA,slightly elevated GGT and TCH.Diagnosis may be confirmed by urinary bile acid mass spectrometry and CYP27A1 gene detection.%目的 报道1例婴儿期确诊的脑腱黄瘤病(CTX)并文献复习,以期早期识别该病,提高胆汁淤积性疾病的认识.方法 报道l例2月龄以胆汁淤积性黄疸起病的CTX患儿的临床特征、实验室检查、尿胆汁酸质谱分析和CYP27A1基因检测结果.系统检索文献并复习已报道的类似病例,总结CTX的临床特征.结果 2月龄女婴,因“生后1周皮肤黄染”入院.血生化提示胆汁淤积性黄疸、血清TBA正常至轻度升高、GGT和TCH轻度升高,胆道探查除外胆道闭锁.尿胆汁酸质谱分析提示固醇-27-羟化酶活性缺乏,CYP27A1基因检测到致病的复合杂合突变:p.R127W(c.379C＞ C/T)和p.Ql16X(c.346C＞ C/T),确诊为CTX.予胆酸治疗,随访至13月龄,黄疸消退,生长发育正常,血生化指标基本正常.从PubMed数据库中检索到3例婴儿期胆汁淤积性黄疸的CTX病例报道,结合本文1例,其共同表现为2～3月龄出现的胆汁淤积性黄疸,血生化特点为TBA正常或轻度升高、GGT和TCH轻度升高.结论 婴儿期以胆汁淤积症起病的CTX报道较少.TBA正常或轻度升高、GGT和TCH轻度升高时需考虑CTX的可能,确诊通过尿胆汁酸质谱分析和CYP27A1基因检测.