Hepatic cirrhosis in a citrin-deficient infant

A 10-month-old female infant was referred to our hospital due to prolonged jaundice over 9 months and fever of 4 days. Physical examination revealed enlargement of the liver and spleen, as well as ascites. Liver ultrasound indicated multiple firm nodules. Laboratory tests showed hyperbilirubinemia, hypoglycemia, hypoalbuminemia and coagulopathy. Increased citrulline and methionine were detected by MS-MS analysis of serum amino acids, while large quantity of 4-hydroxyphenylpyruvic and 4-hydroxyphenyllactic acid were detected by GC-MS analysis of urine sample. The diagnosis was hepatic cirrhosis, and Citrin Deficiency was suspected to be the initial etiology. The diagnosis was confirmed by High-frequency mutation screening and direct sequencing of SLC25A13 gene that revealed a compound heterozygote of IVS16ins3kb and c.495delA mutation. This study provided additional clinical evidence to challenge the traditionally-assumed benign prognosis of patients with Neonatal Intrahepatic Cholestatic Caused by Citrin Deficiency (NICCD).