A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen

Ataxia telangiectasia (A-T) is an uncommon autosomal recessive disorder, affecting 1 to 2 individuals per 100 000 live births. It results from mutations in the ATM gene. Patients typically present with progressive cerebellar ataxia, oculocutaneous telangiectasia, recurrent sinopulmonary infection, and predisposition to malignancies.

This is a 10 year-old boy with recurrent chest infections and progressive gait imbalance since the age of 4, accompanied by ocular telangiectasia. Laboratory investigations revealed elevated serum alpha-fetoprotein (AFP) and hypogammaglobulinemia. Brain MRI showed cerebellar atrophy, and chest CT revealed pulmonary consolidation. These findings, together with clinical features, confirmed the diagnosis of A-T.

Also referred to as Louis-Bar Syndrome, Ataxia-telangiectasia (A-T) is a multisystem genetic disorder characterized by a wide range of clinical manifestations. Diagnosis is based on a synthesis of clinical assessments and laboratory results, with genetic testing serving as the definitive method for confirmation. Management strategies are predominantly symptomatic and supportive, emphasizing immunoglobulin replacement therapy, immunization protocols, antibiotic administration for infection prevention, and vigilant surveillance for malignancies.

This case emphasizes the importance of considering A-T in children with recurrent chest infections and neurological symptoms. Early diagnosis facilitates timely supportive care, including immunization, pulmonary management, malignancy surveillance, and genetic counseling for families.