Abstract Background: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and profound immunodeficiency. Although individuals with A-T exhibit a heightened predisposition to malignancies, the incidence of hepatocellular carcinoma is exceptionally rare where diagnosis may be further complicated by the underlying immunodeficiency. Case Presentation: We present a 14-year-old male with a confirmed diagnosis of A-T since the age of two, experiencing progressive neurological decline. Hepatocellular carcinoma was identified during routine systemic surveillance through imaging studies and rising alpha-fetoprotein levels. The patient underwent chemotherapy with PLADO regimen and sorafenib, alongside monthly intravenous immunoglobulin. He had an exceptionally satisfactory course and successful outcome following chemotherapy. Conclusion: The coexistence of A-T and hepatocellular carcinoma is an exceptionally rare phenomenon, with only a limited number of cases reported globally. Comprehensive, multidisciplinary management is crucial in optimizing survival outcomes and enhancing the quality of life in these medically complex patients.
Alesaeidi et al. (2025) studied this question.