Postmortem findings in the Nijmegen breakage syndrome.

@article{Kaa1994PostmortemFI,
  title={Postmortem findings in the Nijmegen breakage syndrome.},
  author={C A van de Kaa and Corry M. R. Weemaes and Pieter Wesseling and H. Ewout Schaafsma and {\'A}sgeir Haraldsson and Roel A. de Weger},
  journal={Pediatric pathology},
  year={1994},
  volume={14 5},
  pages={787-96}
}
Autopsy findings for two patients with the Nijmegen breakage syndrome (NBS) are presented. This syndrome has the same type of immunologic and cytogenetic abnormalities as ataxia telangiectasia (AT). In NBS, however, microcephaly is found and progressive cerebellar ataxia and oculocutaneous telangiectasia are lacking. We demonstrate a clear neuropathologic difference between these two syndromes, as the diffuse cortical cerebellar degeneration characteristic of AT was absent in NBS. In the thymus… CONTINUE READING

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