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|Year : 2016 | Volume
| Issue : 7 | Page : 129
Magnetic resonance imaging of ataxia-telangiectasia
Carlos Zamora1, Noushin Yahyavi-Firouz-Abadi2, Gokhan Kuyumcu3, Marinos Kontzialis3
1 Division of Neuroradiology, University of North Carolina School of Medicine, 3326 Old Infirmary Rd, Chapel Hill, NC 27514, USA
2 The Russell H. Morgan Department of Radiology and Radiological Science, Division of Neuroradiology, Johns Hopkins University School of Medicine, Phipps B-112, Baltimore, MD 21287, USA
3 Division of Neuroradiology, Rush University Medical Center 1653 W, Congress Parkway, Chicago, IL 60612, USA
|Date of Web Publication||3-Mar-2016|
Division of Neuroradiology, Rush University Medical Center, 1653 W, Congress Parkway, Chicago, IL 60612
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Zamora C, Yahyavi-Firouz-Abadi N, Kuyumcu G, Kontzialis M. Magnetic resonance imaging of ataxia-telangiectasia. Neurol India 2016;64, Suppl S1:129
A 27-year-old male patient with documented history of ataxia-telangiectasia (A-T) presented with progressive episodes of headache, which prompted an magnetic resonance imaging examination [Figure 1]. His physical examination revealed bilateral prominent telangiectasias in the bulbar conjunctivae. He demonstrated mild dysarthria, a delay in initiation of speech, and right beating nystagmus. He had abnormal finger-nose-finger maneuvers and absent deep tendon reflexes.
|Figure 1: There is marked cerebellar atrophy on the sagittal T1-weighted images (a). Confluent bilateral white matter hyperintensities are demonstrated on T2 fluid attenuated inversion recovery (b). There are innumerable foci of increased susceptibility on susceptibility-weighted imaging (c), some of which demonstrate contrast enhancement (d), consistent with capillary telangiectasias|
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A-T is an autosomal recessive disorder that is characterized by cerebellar degeneration, oculomucocutaneous telangiectasias, immunodeficiency, predisposition to malignancies, hypogonadism, and radiosensitivity.  The hallmark of the disorder is cerebellar ataxia, which is universally present and becomes apparent between 2 and 4 years of age.  The causative gene, called ataxia telangiectasia mutated, is localized in chromosome 11q22-23 and encodes a serine-threonine kinase, which is involved in the DNA damage response and associated cell-cycle regulation. [2,3] Over 500 mutations have been identified. ,, Cerebellar atrophy is the most constant finding on imaging [Figure 1]a.  Multiple capillary telangiectasias are demonstrated on susceptibility weighted imaging and following contrast administration [Figure 1]b-d. In a recent series, T2 fluid attenuated inversion recovery hyperintensities in the hemispheric white matter were associated with diminished metabolite concentration on magnetic resonance spectroscopy.  These areas might represent reduced cellularity with edema or perhaps gliosis rather than demyelination or ischemia. 
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