[Alagille's syndrome: a family case and its association with hepatocellular carcinoma]

Area of Science:

• Hepatology
• Genetics
• Pediatrics

Background:

• Alagille syndrome is a genetic disorder affecting the liver, heart, and other organs.
• It is characterized by a reduced number of bile ducts in the liver, leading to cholestasis.
• Hepatocarcinoma is a rare but serious complication associated with Alagille syndrome.

Observation:

• A 6-year-old boy presented with neonatal cholestasis, pruritus, and characteristic Alagille syndrome phenotype.
• Liver biopsy confirmed the absence of intrahepatic bile ducts.
• The boy's father, diagnosed with Alagille syndrome, died at 43 from hepatocarcinoma, with his liver biopsy also showing absent intrahepatic bile ducts.

Findings:

• This case highlights the father-son transmission of Alagille syndrome.
• It documents a rare association between Alagille syndrome and hepatocarcinoma, previously reported in six cases.
• The father's long survival and reproductive success despite Alagille syndrome and hepatocarcinoma are noteworthy.

Implications:

• This case underscores the importance of long-term monitoring for complications like hepatocarcinoma in Alagille syndrome patients.
• It contributes to understanding the genetic and clinical spectrum of Alagille syndrome.
• Further research may elucidate the mechanisms linking Alagille syndrome to hepatocarcinogenesis and long-term survival factors.