Ataxia-Telangiectasia in Resource-Limited Settings: A Diagnostic Challenge

Abstract

Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by cerebellar ataxia and oculocutaneous telangiectasias, with increased malignancy risk from radiation-induced DNA double-strand breaks. Its multisystem involvement makes diagnosis challenging, and confirmation requires identifying biallelic pathogenic variants in the ATM gene. We report an eight-year-old boy with unsteady gait and bilateral ocular telangiectasia. He had no recurrent infections, and immunoglobulin (Ig) levels were normal, except for low IgA. Although serum alpha-fetoprotein was elevated and MRI demonstrated cerebellar atrophy, findings suggestive of A-T, definitive genetic testing for ATM mutations was not available.