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.
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