A Rare Case of Pediatric Hepatocellular Carcinoma Secondary to Mitochondrial DNA Depletion Syndrome Type 3 ( DGUOK Mutation)

Key Points

• This case report aims to describe a rare instance of pediatric hepatocellular carcinoma associated with mitochondrial DNA depletion syndrome due to a DGUOK mutation.
• Case report of a pediatric patient with diagnosed hepatocellular carcinoma
• Genetic testing to identify the DGUOK mutation
• Clinical observation of tumor development and progression
• Identification of hepatocellular carcinoma in a child with mitochondrial DNA depletion syndrome
• Confirmation of DGUOK mutation as a contributing factor to carcinogenesis
• Documentation of clinical outcomes and treatment responses