Postmortem findings in the Nijmegen breakage syndrome

Christina A. Van de Kaa, Corry M.R. Weemaes, Pieter Wesseling, H. Ewout Schaafsma, Asgeir Haraldsson, Roel A. De Weger

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18 Citaten (Scopus)


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 the histologic picture was suggestive of simple dysplasia. Lymphoid tissues were slightly atrophic but otherwise structurally normal. In one of the two presented cases an extranodal diffuse large cell malignant non-Hodgkin lymphoma of B cell immunoblastic type was found in Waldeyer's ring, in the small and large intestines, and in the brain, whose sequelae had caused death. Six of the 19 patients known with certainty to have this syndrome have developed lymphoid malignancy, which indicates that these patients are prone to develop malignancies..

Originele taal-2Engels
Pagina's (van-tot)787-796
Aantal pagina's10
TijdschriftFetal and Pediatric Pathology
Nummer van het tijdschrift5
StatusGepubliceerd - 1994
Extern gepubliceerdJa


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