Nijmegen breakage syndrome: The importance of follow-up
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v32.i3.25758Keywords:
immunodeficiency, Nijmegen breakage syndrome, microcephalyAbstract
Nijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is progressive and severe microcephaly, which affects the facial phenotype, characterized by prominent midface, sloping forehead, and retrognathia. Mild to moderate intellectual impairment is often present and female patients usually develop primary ovarian failure. The diagnosis requires a high index of suspicion and is confirmed by molecular genetic testing. Herein are presented two cases of Nijmegen breakage syndrome followed in a tertiary center.
Downloads
References
Kocheva SA, Martinova K, Antevska-Trajkova Z, Coneska-Jovanova B, Eftimov A, Dimovski AJ. T-lymphoblastic leukemia/lymphoma in Macedonian patients with Nijmegen breakage syndrome. Balkan J Med Genet. 2016; 19(1):91-4.
Varon R, Demuth I, Chrzanowska KH. Nijmegen Breakage Syndrome. GeneReviews. Seattle: University of Washington; 1993-2018.
Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piatosa B, Pietrucha B, Heropolitanska-Pliszka E, et al. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-term outcome and treatment options – a retrospective analysis. J Clin Immunol. 2015;35(6):538-49.
Pastorczak A, Szczepanski T, Mlynarski W. Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. Eur J Med Genet. 2016;59(3):126-32.
Correia J, Pinho L, Couto Guerra I, Costa E, Cleto E. Instabilidade cromossómica e imunodeficiência – associação essencial no diagnóstico de Síndrome de Nijmegen. Revista Nascer e Crescer. 2017;26(2):133-7.
Braggio E, Dogan A, Keats J, Chng W J, Huang G, Matthews J M, et al. Genomic analysis of marginal zone and lymphoplasmacytic lymphomas identified common and disease-specific abnormalities. Mod Pathol. 2012;25(5):651-60.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2023 Sara Silva Leite, Cláudia Lemos, Rita Dias, Raquel Faria, Laura Marques
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Copyright and Authors' Rights
All articles published in Nascer e Crescer - Birth and Growth Medical Journal are Open Access and comply with the requirements of funding agencies or academic institutions. For use by third parties, Nascer e Crescer - Birth and Growth Medical Journal adheres to the terms of the Creative Commons License "Attribution - Non-Commercial Use (CC-BY-NC)".
It is the author's responsibility to obtain permission to reproduce figures, tables, etc. from other publications.
Authors must submit a Conflict of Interest statement and an Authorship Form with the submission of the article. An e-mail will be sent to the corresponding author confirming receipt of the manuscript.
Authors are permitted to make their articles available in repositories at their home institutions, provided that they always indicate where the articles were published and adhere to the terms of the Creative Commons license.
