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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

2004

vol. 64

issue 4

503-509

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.

Homozygote for mutation c. 1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type

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Lugowska A., Szymanska K., Kmiec T., Tarczynska I., Czartoryska B., Tylki-Szymanska A., Jurkiewicz E.

Journal of Applied Genetics

2005

vol. 46

issue 3

337-339

The metachromatic leukodystrophy (MLD) ? causing mutation c.1204 + 1G > A damages an intron-exon splice site recognition sequence. This results in a complete loss of enzymatic activity of arylsulfatase A (ARSA) protein molecules. We have found a late-infantile type MLD-patient to be homozygous for this mutation, which was not reported earlier, but is consistent with previous suggestions. Interestingly, the cerebral magnetic resonance imaging (MRI) in this patient displayed linear or punctuate structures radiating in the demyelinated white matter, which resembled the patterns described in Pelizaeus-Merzbacher disease. It should be emphasised that whenever a cerebral MRI demonstrates the 'tigroid' or 'leopard-skin' demyelination pattern not only Pelizaeus-Merzbacher disease, but also metachromatic leukodystrophy diagnosis should be considered; this suggests the necessity of ARSA activity estimations in patients with such specific MRI patterns.

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1 Acta Neurobiologiae Experimentalis

1 Journal of Applied Genetics

1 2005

1 2004

2 Jurkiewicz E.

1 Bekiesinska-Figatowska M.

1 Chrzanowska K. H.

1 Czartoryska B.

1 Gladkowska-Dura M.

1 Kmiec T.

1 Lugowska A.

1 Rysiewski H.

1 Szymanska K.

1 Tarczynska I.

1 Tylki-Szymanska A.

1 Wakulinska A.

1 Walecki J.

Search results

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

Homozygote for mutation c. 1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type