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).


METHODS
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.


CONCLUSIONS
In our patient, brain MRI confirmed extensive extracerebellar lesions in AT.


CONCLUSIONS
Our report broadens the spectrum of brain MRI abnormalities in AT and supports the hypothesis on cerebrovascular abnormalities occurring in later stages of AT.
Habek
Mario
M
Referral 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
Brinar
Vesna V
VV
Rados
Marko
M
Zadro
Ivana
I
Zarković
Kamelija
K
D000328:Adult; D000367:Age Factors; D001254:Astrocytoma / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D001284:Atrophy / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology* / Q000503:physiopathology; D001932:Brain Neoplasms / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D002526:Cerebellar Diseases / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D002536:Cerebral Arteries / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D013684:Telangiectasis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D014057:Tomography, X-Ray Computed