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Case Reports: Unusual association of diseases/symptoms
Hepatoblastoma in a cirrhotic child with Alagille syndrome
  1. Sumit Agrawal,
  2. Bishnupriya Sahoo,
  3. Karunesh Kumar,
  4. Smita Malhotra and
  5. Anupam Sibal
  1. Pediatric Gastroenterology, Hepatology and Nutrition, Indraprastha Apollo Hospital, New Delhi, India
  1. Correspondence to Dr Sumit Agrawal; docsumit1060{at}gmail.com

Abstract

Alagille syndrome (AGS) is a genetic disorder due to mutations in the JAGGED 1 or NOTCH 2 genes leading to multisystemic manifestations. Though these patients are at risk of developing various liver tumours, no cases of hepatoblastoma among young children with cirrhosis in AGS have been reported. We report a male toddler, with cirrhosis due to AGS who developed a hepatoblastoma. He underwent a liver transplant for decompensated chronic liver disease with marked pruritus, very high alpha-fetoprotein levels and malignant liver lesions on positron emission tomography CT. His explant histology revealed a paucity of bile ducts and liver lesions turned out to be hepatoblastoma for which he received postoperative chemotherapy. The genetic testing sent before transplantation confirmed the clinical diagnosis of AGS. Hepatoblastoma should be suspected in any child with AGS presenting with a right upper quadrant mass even in the setting of chronic liver disease.

  • bilirubin disorders
  • paediatric oncology
  • hepatic cancer
  • genetic screening / counselling

https://doi.org/10.1136/bcr-2022-253080

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    Footnotes

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms and critical revision for important intellectual content: SA, BS, KK, SM, AS. The following authors gave final approval of the manuscript: SA, BS, KK, SM, AS.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.