A Case of Mitochondrial DNA Depletion Syndrome With Hepatocellular Carcinoma in the Explanted Native Liver During Living-Donor Liver Transplantation

Abstract

MPV17-related mitochondrial DNA depletion syndrome has a poor prognosis; nonetheless, depending on the mutated gene, there have been some cases of survival after liver transplantation with few neurological complications. However, there have been reports of a poor prognosis after liver transplantation in patients with neurological disorders prior to the procedure. Therefore, the indications for liver transplantation remain controversial. The patient was a 14-year-old girl. She was diagnosed as having MPV17-related mitochondrial DNA depletion syndrome at the age of 3 years on the basis of the liver biopsy finding of decreased mitochondrial DNA levels and the skin biopsy findings of c.293C>T and c376-1G>A gene mutations. Living donor liver transplantation from her father was performed for decompensated cirrhosis at 14 years of age. Hepatocellular carcinoma was incidentally detected in the explanted liver. Two years after liver transplantation, there was no evidence of rejection, liver dysfunction, or recurrence of hepatocellular carcinoma. However, her neurological symptoms gradually worsened. Careful consideration of the indications for liver transplantation in each case and further investigation of life and neurological prognoses after liver transplantation are needed.