A case report of cerebrotendinous xanthomatosis with novel mutations in CYP27A1 gene

  • JIN Yu ,
  •  GUO Hongmei ,
  • YANG Guang ,
  • LI Mei
Expand
  • Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210008, Jiangsu, China

Received date: 2017-11-15

  Online published: 2017-11-15

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 CYP27A1 (c.1263+1G>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.

Cite this article

JIN Yu ,  GUO Hongmei , YANG Guang , LI Mei . A case report of cerebrotendinous xanthomatosis with novel mutations in CYP27A1 gene[J]. Journal of Clinical Pediatrics, 2017 , 35(11) : 841 . DOI: 10.3969/j.issn.1000-3606.2017.11.010

Outlines

/