Journal
NEUROLOGIST
Volume 14, Issue 3, Pages 192-195Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/NRL.0b013e31815fa5a7
Keywords
ataxia-telangiectasia; magnetic resonance imaging; demyelination; age
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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.
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