Related Experiment Videos
Cranial MRI in the Nijmegen breakage syndrome
M Bekiesińska-Figatowska1, K H Chrzanowska, J Sikorska
1Department of Diagnostic Imaging, Central Railway Hospital, Bursztynowa 2, PL-04-749 Warsaw, Poland,
Abstract:
We present the results paragraph signof MRI examinations in ten patients with documented Nijmegen paragraph signbreakage 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 gamma-radiation. CT is therefore contraindicated in these patients and MRI should be the method of choice for diagnostic imaging.
Insights
Magnetic resonance imaging (MRI) reveals characteristic brain abnormalities in Nijmegen breakage syndrome (NBS) patients, including microcephaly and corpus callosum agenesis. MRI is recommended over CT due to radiation sensitivity in NBS.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Nijmegen breakage syndrome (NBS) is a rare genetic disorder associated with chromosomal instability.
- Patients with NBS exhibit increased susceptibility to malignancy and radiation.
- Diagnostic imaging is crucial for understanding the neurological manifestations of NBS.
Purpose of the Study:
- To describe the neuroimaging findings in patients with Nijmegen breakage syndrome (NBS) using Magnetic Resonance Imaging (MRI).
- To identify common and variable structural brain abnormalities in NBS.
- To establish MRI as the preferred imaging modality for NBS patients.
Main Methods:
- MRI examinations were performed on ten patients diagnosed with NBS, aged 1.75-19 years.
- T1-, Proton-Density-, and T2-weighted spin-echo sequences were utilized in three imaging planes.
- Standard neuroimaging protocols were applied to assess brain structure.
Main Results:
- All ten patients displayed microcephaly with reduced frontal lobe size and narrow frontal horns.
- Four patients had agenesis of the posterior corpus callosum, with colpocephaly and dilated temporal horns.
- Sinusitis was observed in all patients, linked to primary immunodeficiency.
Conclusions:
- MRI demonstrates consistent brain abnormalities in NBS, including microcephaly and corpus callosum anomalies.
- The findings support the use of MRI as the primary diagnostic imaging tool for NBS.
- Contraindication of CT due to radiation hypersensitivity underscores MRI's importance in managing NBS patients.