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Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome

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Bekiesinska-Figatowska M., Chrzanowska K. H., Jurkiewicz E., Wakulinska A., Rysiewski H., Gladkowska-Dura M., Walecki J.
Acta Neurobiologiae Experimentalis
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2004
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vol. 64
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issue 4
503-509
EN
The results of brain MRI are presented in 22 patients with documented Nijmegen breakage syndrome (NBS), aged from 1 and 9/12 to 20 years. T1-, PD or FLAIR and T2-weighted SE/TSE images in three planes were obtained. Twenty-one patients showed microcephaly. Decreased size of frontal lobes and narrow frontal horns of the lateral ventricles was observed in all cases. In 6 patients agenesis of the posterior part of the corpus callosum was found as well as colpocephaly and temporal horn dilatation. In 2 patients callosal hypoplasia was accompanied by other anomalies: abnormal cerebrospinal fluid spaces. Sinusitis was present in all patients as a result of primary immunodeficiency. As in ataxia teleangiectasia and other breakage syndromes, NBS patients show inherited malignancy susceptibility and hypersensitivity to X and g radiation. Because of that computed tomography is contraindicated in these patients and MRI should be the method of choice in diagnostic imaging.
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