Korean J Transplant.  2022 Mar;36(1):73-78. 10.4285/kjt.21.0007.

Living donor liver transplantation in an infant patient with progressive familial intrahepatic cholestasis along with hepatocellular carcinoma: a case report

• Namgoong JM
• Hwang S
• Kim DY
• Ahn CS
• Kwon H
• Ha S
• Kim KM
• Oh SH

• KMID: 2527901
• DOI: http://doi.org/10.4285/kjt.21.0007

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease requiring liver transplantation (LT). Hepatocellular carcinoma (HCC) is very rare in infants. We present a case of living donor LT using a left lateral section graft performed in a 7-month-old female infant diagnosed with PFIC type II and HCC. No mutation on ABCB11 gene was identified. Because of progressive deterioration of liver function, living donor LT with her mother’s left lateral section graft was performed. Pretransplant serum alpha-fetoprotein (AFP) level was increased to 2,740 ng/mL, but HCC was not taken into account because of its rarity. The explant liver showed micronodular liver cirrhosis, multiple infantile hemangiomas and two HCCs of 0.7 cm and 0.3 cm in size. The patient recovered uneventfully from the LT operation. This patient has been regularly followed up with abdomen ultrasonography and AFP measurement every 6 months. The patient has been continually doing well for 8 years after the LT. In conclusion, LT is currently the only effective treatment for PFIC-associated end-stage liver diseases. HCC can develop at the cirrhotic liver of any cause, thus elevation of HCC tumor markers in pediatric patients is an important clue to perform further investigation before LT.

Keyword

Infant; Hepatocellular carcinoma; Tumor marker; Liver cirrhosis; Carcinogenesis

Figure

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  Fig. 1 Pretransplant computed tomography scan taken at 1 month before liver transplantation. There are multiple enhancing nodules scattered at both lobes of the liver, which are enhanced in the arterial phase images (A, C) and portal phase images (B, D).

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  Fig. 2 Gross photograph of the explant liver showing micronodular liver cirrhosis (A) and pathology-proven hepatocellular carcinoma (B, arrow).

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  Fig. 3 Microscopic findings of the explant liver. (A) Histologic study shows bile duct proliferation with cholangiolar cholestasis (H&E, ×100). (B) Liver cirrhosis with diffuse lobular fibrosis is identified (Masson trichrome staining, ×50). (C) Immunohistochemical staining study for bile salt export pump (BSEP) showing total loss of canalicular expression (BSEP staining, ×200). (D) Normal control specimen showing normal canalicular expression for BSEP (BSEP staining, ×200).

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  Fig. 4 Posttransplant computed tomography scans taken at 4 days (A) and 1 year (B) after liver transplantation. No abnormal finding is identified.

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  Fig. 5 Posttransplant Doppler ultrasonography follow-up images taken at 2 years (A), 4 years (B), 6 years (C), and 8 years (D) after transplantation. No abnormal finding is identified.

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