Nijmegen breakage syndrome: The importance of follow-up
Keywords:immunodeficiency, Nijmegen breakage syndrome, microcephaly
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.
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.
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