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Brain MRI abnormalities in ataxia-telangiectasia
Mario Habek1, Vesna V Brinar, Marko Rados
1Referral Center for Demyelinating Diseases of the Central Nervous System, University Department of Neurology, Zagreb School of Medicine and Zagreb University Hospital Center, Zagreb, Croatia. mhabek@mef.hr
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.
