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Cranial MRI in ataxia-telangiectasia

  • Paediatric Neuroradiology
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Abstract

We examined five males with laboratory-confirmed ataxiatelangiectasia (AT), aged 9–28 years, several times by MRI (9 examinations: 5 at 0.15 T, 3 at 0.5 T, 1 at 1.5 T). Intermediate, T1-, T2-and T2*-weighted spin-echo and gradient-echo sequences were performed. All patients showed vermian atrophy, enlarged fourth ventricle and cisterna magna; four showed cerebellar hemisphere atrophy; two enlarged infracerebellar subarachnoid spaces and four patients had sinusitis. No focal areas of abnormal signal were seen in the brain, diffuse high signal was found in the central cerebral white matter of the oldest patient. AT is an important human model of inherited cancer susceptibility and multisystem ageing; as in xeroderma pigmentosum and other “breakage syndromes”, ionising radiation should be avoided. When imaging is necessary, MRI should be preferred to CT in patients known or suspected to have AT and those with undefined paediatric ataxias of nontraumatic origin. If atrophy of only the cerebellum, especially the vermis, is noted, laboratory research should be performed to confirm the diagnosis of AT.

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Authors and Affiliations

  1. Department of Radiology, University of Genoa, Viale Benedetto XV, 10, L-16132, Genoa, Italy

    F. Sardanelli, R. C. Parodi, C. Ottonello, E. Renzetti & S. Saitta

  2. G. Gaslini Institute, Genoa, Italy

    E. Lignana

  3. Department of Neurology, University of Genoa, Viale Benedetto XV, 10, 1-16132, Genoa, Italy

    G. L. Mancardi

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  1. F. Sardanelli
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  2. R. C. Parodi
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  3. C. Ottonello
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Sardanelli, F., Parodi, R.C., Ottonello, C. et al. Cranial MRI in ataxia-telangiectasia. Neuroradiology 37, 77–82 (1995). https://doi.org/10.1007/BF00588526

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  • DOI: https://doi.org/10.1007/BF00588526

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