When the unexpected strikes: hepatocellular carcinoma in a teen with ataxia-telangiectasia

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.

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.

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.