Objective To discuss the clinical features,hepatic pathology,and prognosis of cerebrotendinous xanthomatosis in a child caused by CYP27A1 mutation.Methods Clinical features of a child with cerebrotendinous xanthomatosis were retrospectively analyzed,and the related literatures viewed.Results The child had different degrees of cholestasis,hepatomegaly,elevated transaminases,normal-glutamyl GGT(γ-GT) and normal total bile acid.The hepatic pathology showed intrahepatic cholestasis,inflammatory cell infiltration and expansion and hyperplasia of bile capillary.Gene testing found heterozygous mutations of CYP27A 1 (c.1263+ l G＞A/c.1477-3C＞G) in the child.The variant of c.1477-3C＞G is a novel mutation.Conclusions The possibility of bile acid synthesis disorder should be considered when infants have cholestasis,elevated transaminase,hepatomegaly,and normal or reduced γ-GT and total bile acid.Gene testing should be used for early diagnosis,treatment to improve prognosis.%目的 探讨固醇-27羟化酶(CYP27A1)基因变异引起的脑黄腱瘤患儿的临床特点,肝脏病理改变及预后.方法 回顾分析1例CYP27AJ基因变异引起的脑黄腱瘤患儿的临床特点,并复习相关文献.结果 患儿,女,1月龄,表现为胆汁淤积、肝大、转氨酶升高,谷氨酸转移酶及总胆汁酸正常;病理检查提示肝内胆汁淤积、炎症细胞浸润,毛细胆管扩张及增生;基因检测示CYP27A1基因剪接位点c.1263+1G＞A/c.1477-3 C＞G复合杂合变异,其中c.1477-3C＞G为一新颖变异.结论 婴儿期出现胆汁淤积、转氨酶升高、肝肿大,而谷氨酸转移酶及总胆汁酸正常或减低,需警惕胆汁酸合成障碍,应尽早完善基因检测,以早期诊断及治疗,改善预后.
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