Abstract:

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.Q116X（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.