Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report

Abstract

Background Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a common form of neonatal jaundice. Histopathological examination of the liver in patients with NICCD typically shows fatty liver, steatohepatitis, and liver fibrosis. Jaundice and fatty liver often improve by 1 year of age. We herein describe a girl who was diagnosed with NICCD based on an SLC25A13 mutation, although no fatty deposits were found on pathologic examination of the liver. Case presentation The patient in this case was a 3-month-old girl. At 2 months of age, she presented with jaundice, discolored stools, and poor weight gain and was found to have hyperbilirubinemia. Cholangiography revealed that she did not have biliary atresia. A laparoscopic liver biopsy was performed, and liver histopathology showed no fatty deposits. Genetic analysis revealed a compound heterozygous mutation in SLC25A13, and she was diagnosed with NICCD. She was given medium-chain triglyceride milk and gained weight. She resumed consumption of normal milk and breast milk, and her stool color improved. She was discharged at 4 months of age with adequate weight gain and a lower total bilirubin concentration. She was in good condition after discharge and showed normal development at the time of outpatient follow-up. Conclusions We experienced a case of NICCD in a patient without fatty liver. This case illustrates that the absence of hepatic steatosis in neonatal cholestasis does not rule out NICCD.

Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency

“…While both the ultrasonography and liver biopsy of patient 3 did not indicate evidence of hepatic steatosis. Therefore, consistent with Miyamoto's report ( 5 ), NICCD cannot be ruled out even if hepatic steatosis is not seen in patients with cholestasis. None of the above changes are specific.…”

Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report

“…Citrin deficiency includes a wide range of clinical phenotypes, including neonatal intrahepatic choledeposits caused by citrin deficiency (NICCD: OMIM#605814), [ 2 ] intermediate growth disorders, and dyslipidemia caused by citrin deficiency, [ 5 ] and citrullinemia type II (OMIM#603471) in adults. [ 6 ] NICCD is a classic metabolic disorder that causes neonatal cholestasis, [ 7 ] generally occurring between birth and 6 months, and presenting as mild aspartate aminotransferase (AST)/alanine aminotransferase (ALT) elevation, high direct bilirubin levels, hypoglycemia, and abnormal coagulation test results. This condition is also associated with high levels of galactose, citrulline, arginine, threonine/serine ratio, and alpha-fetoprotein.…”