Ischemic Stroke as the Initial Presentation of Sickle Beta Thalassemia in an Adolescent: A Case Report

TL;DR

A 13-year-old girl had an ischemic stroke due to sickle beta thalassemia, a rare condition, showing the importance of early diagnosis and family screening.

Contribution

This case highlights ischemic stroke as an atypical initial presentation of sickle beta thalassemia in adolescents.

Findings

Neuroimaging showed a left fronto-parietal infarct with hemorrhagic transformation and MCA thrombosis.

Genetic analysis confirmed compound heterozygosity for sickle cell and beta thalassemia mutations.

Family screening identified carriers and an asymptomatic sibling with the same mutation.

Abstract

Ischemic stroke in children is rare and often signifies an underlying systemic disorder. We report the case of a 13-year-old girl presenting with sudden-onset right-sided weakness, facial deviation, and aphasia. Neuroimaging revealed a left fronto-parietal infarct with hemorrhagic transformation and left middle cerebral artery thrombosis. Peripheral smear showed sickle cells; high-performance liquid chromatography indicated sickle beta thalassemia (HbS 76%, HbA2 5.3%, HbA 7.7%). Genetic analysis confirmed compound heterozygosity: HBB: c.20A>T (codon 6 A>T, sickle cell mutation) and HBB: c.92+5G>C (IVS 1-5 G>C, beta thalassemia mutation). She was managed with exchange transfusions and initiated on hydroxyurea. Family screening revealed her father was a sickle trait carrier, her mother a beta-thalassemia carrier, and her asymptomatic brother had the same compound heterozygosity. Arterial stroke can be an atypical and rare presentation of sickle beta thalassemia, highlighting the quiet progression of hemoglobinopathies and the necessity for heightened clinical suspicion. Early diagnosis through family screening and timely intervention can prevent catastrophic complications in at-risk individuals.

Figures