We report the case of a 6-year-old boy with
citrin deficiency and advanced
hepatocellular carcinoma diagnosed by using imaging. He exhibited
intrahepatic cholestasis 2 days after his birth and was misdiagnosed with inspissated bile syndrome at that time. The symptoms of
jaundice spontaneously resolved when he was 5 months old. However, his
transaminase levels remained elevated for ∼6 years, for which he received no treatment. He preferred a high-
protein, high-fat,
low-carbohydrate diet, which has been observed in many patients with
citrin deficiency, but no clinical features of adult-onset type II
citrullinemia were observed. At the age of 6 years, he was admitted to our hospital with a nonviral
infection and high α-
fetoprotein level; results from an abdominal MRI and computed tomography revealed multiple
tumors in the liver. Because of his history of
intrahepatic cholestasis in the neonatal period, he was suspected to have
citrin deficiency. A genetic analysis of
solute carrier family 25, member 13 revealed the presence of a homozygous 851del4 mutation, and a diagnosis of
citrin deficiency was made. The patient did not qualify for
liver transplantation and died 2 months later, after discharge from our hospital. Thus, this case reveals that not all patients with neonatal
intrahepatic cholestasis spontaneously and totally improve, and this case is used to emphasize that patients with neonatal
intrahepatic cholestasis should be managed carefully, especially in the stage of
failure to thrive and
dyslipidemia caused by
citrin deficiency, which may lead to advanced
hepatocellular carcinoma.