A case report of cerebrotendinous xanthomatosis with novel mutations in CYP27A1 gene
10.3969/j.issn.1000-3606.2017.11.010
- VernacularTitle:CYP27A1基因突变致脑黄腱瘤1例报告并文献复习
- Author:
Hongmei GUO
1
;
Mei LI
;
Yu JIN
;
Guang YANG
Author Information
1. 南京医科大学附属儿童医院消化科 江苏南京 210008
- Keywords:
cholestasis;
metabolism deficiency;
congenital disease
- From:
Journal of Clinical Pediatrics
2017;35(11):841-843
- CountryChina
- Language:Chinese
-
Abstract:
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.
