Brain MRI abnormalities in ataxia-telangiectasia

Background: Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder. initially characterized by normal brain magnetic resonance imaging (MRI). Case report: In a 34-year-old woman patient with AT, MRI revealed extensive and diffuse white matter dismyelination, T1 and T2 hypointense lesions, T1 hypointense but T2 hyperintense lesions, and numerous dilated telangiectases upon gadolinium enhancement. Discussion: In our patient, brain MRI confirmed extensive extracerebellar lesions in AT. Conclusion: Our report broadens the spectrum of brain MRI abnormalities in AT and supports the hypothesis on cerebrovascular abnormalities occurring in later stages of AT.