ISSN:
1432-1920
Keywords:
Key words Nijmegen breakage syndrome
;
Anomalies of brain
;
Magnetic resonance imaging
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract We present the results ¶of MRI examinations in ten patients with documented Nijmegen ¶breakage syndrome (NBS), aged 1.75–19 years. T1-, Proton-Density- and T2-weighted spin-echo sequences were performed in three planes. All patients showed microcephaly with decreased size of the frontal lobes and narrow frontal horns. In four patients agenesis of the posterior part of the corpus callosum was found, with colpocephaly and temporal horns dilatation. In one patient callosal hypoplasia was accompanied by abnormal cerebrospinal fluid spaces and wide cerebral cortex, suspicious of pachygyria. Sinusitis was present in all ten patients, as a result of primary immunodeficiency. As in ataxia teleangiectasia and other breakage syndromes, patients with NBS show an inherited susceptibility to malignancy and hypersensitivity to X- and γ-radiation. CT is therefore contraindicated in these patients and MRI should be the method of choice for diagnostic imaging.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s002340050011
