title: Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome.
abstract: 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 gamma radiation. Because of that computed tomography is contraindicated in these patients and MRI should be the method of choice in diagnostic imaging.
authors.affiliation: Department of Diagnostic Imaging, Central Railway Hospital, Bursztynowa 2, 04-749 Warsaw, Poland. m.figatowska@mp.pl.
authors.forename: Monika
authors.initials: M
authors.lastname: Bekiesińska-Figatowska
authors.forename: Krystyna H
authors.initials: KH
authors.lastname: Chrzanowska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Jurkiewicz
authors.forename: Anna
authors.initials: A
authors.lastname: Wakulińska
authors.forename: Henryk
authors.initials: H
authors.lastname: Rysiewskis
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Gładkowska-Dura
authors.forename: Jerzy
authors.initials: J
authors.lastname: Walecki
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000473:pathology* / Q000503:physiopathology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D005260:Female; D006801:Humans; D007223:Infant; D018810:Magnetic Resonance Angiography / Q000379:methods; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009421:Nervous System Malformations / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D014057:Tomography, X-Ray Computed