CASE REPORT
Pediatrics
doi: 10.25005/2074-0581-2026-28-2-555-561
A CLINICAL CASE OF NIJMEGEN BREAKAGE SYNDROME IN A CHILD

E.A. KUCHENEVA, N.A. BELYKH, YU.V. DEEVA, V.V. LEBEDEV

I.P. Pavlov Ryazan State Medical University, Ryazan, Russian Federation

Nijmegen breakage syndrome is a rare hereditary monogenic disease caused by a mutation in the NBN gene, which encodes nibrin, a protein involved in DNA repair. As a result, disturbances occur in the processes of the cell cycle and apoptosis, along with the accumulation of mutated cells. This, in turn, leads to a high risk of malignant neoplasms, predominantly lymphomas, and immune pathology. The disease is inherited in an autosomal recessive pattern and is most common among Slavic populations. This pathology is of particular relevance to primary care specialists, since the patient’s prognosis depends on timely diagnosis. The article presents a clinical case of a 7-month-old boy with microcephaly, facial skeletal deformity of the “bird-like face” type, and recurrent respiratory infections. Extended neonatal screening revealed a decreased TREC/KREC ratio, which served as the basis for molecular genetic testing. The study included an analysis of primary medical documentation and a literature review. Thus, early diagnosis enabled the establishment of the diagnosis at 2 months of age, prompt initiation of immunoglobulin replacement therapy, and the search for a donor for hematopoietic stem cell transplantation, thereby improving the course of the disease and subsequent prognosis.

Keywords: Children, immunodeficiency state, Nijmegen breakage syndrome, immunoglobulin, clinical case.

Download file:

References
  1. Malyuzhinskaya NV, Morgunova MA, Petrova IV, Polyakova OV, Samokhvalo- va VV, Bayurov AV, i dr. Sindrom Niymegen v detskom vozraste: klinicheskiy sluchay [Nijmegen syndrome in childhood: A clinical case]. Onkogematologiya. 2024;19(2):83-7. https://doi.org/10.17650/1818-8346-2024-19-2-83-87
  2. Hasbaoui BE, Elyajouri A, Abilkassem R, Agadr A. Nijmegen breakage syndrome: Case report and review of literature. Pan African Medical Journal. 2020;35:85. https://doi.org/10.11604/pamj.2020.35.85.14746
  3. Sharapova SO, Pashchenko OE, Bondarenko AV, Vakhlyarskaya SS, Prokofjeva T, Fedorova AS, et al. Geographical distribution, incidence, malignancies, and out- come of 136 eastern Slavic patients with Nijmegen breakage syndrome and NBN founder variant c.657_661del5. Front Immunol. 2021;11:602482. https://doi. org/10.3389/fimmu.2020.602482
  4. Boyarchuk O, Kostyuchenko L, Akopyan H, Bondarenko A, Volokha A, Hilfanova A, et al. Nijmegen breakage syndrome: 25-year experience of diagnosis and treat- ment in Ukraine. Front Immunol. 2024;15:1428724. https://doi.org/10.3389/ fimmu.2024.1428724
  5. Sharapova SO, Golovataya EI, Shepelevich EV, Mareika YE, Guryanova IE, Stegant- seva MV, et al. Nijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia. Cent Eur J Immunol. 2020;45(4):507-10. https://doi.org/10.5114/ceji.2020.103387
  6. Bolotin SG, Zenina MS, Solovyova AV, Pristupa AS. Analiz zaregistrirovannoy zabolevaemosti, rasprostranyonnosti i gospital'noy letal'nosti patsientov s simp- tomaticheskoy mnozhestvennoy mielomoy v Ryazanskoy oblasti za 10 let [Anal- ysis of recorded morbidity, prevalence and hospital mortality of patients with symptomatic multiple myeloma in the Ryazan Region for 10 years]. Rossiyskiy mediko-biologicheskiy vestnik im. akademika I.P. Pavlova. 2022;30(4):547-54. https://doi.org/10.17816/PAVLOVJ108985
  7. Filipiuk A, Kozakiewicz A, Kośmider K, Lejman M, Zawitkowska J. Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies. Ann Agric Environ Med. 2022;29(2):207-14. https://doi.org/10.26444/aaem/143541
  8. Mukhina AA, Kuzmenko NB, Rodina YA, Kondratenko IV, Bologov AA, Latyshe- va TV, et al. Primary immunodeficiencies in Russia: Data from the national registry. Front Immunol. 2020;11:1491. https://doi.org/10.24110/0031- 403X-2020-99-2-16-32
  9. Batiuk E, Bassett M, Hakar M, Lin HC, Hunter AK. A rare case of primary gastric Hodgkin lymphoma in an adolescent with Nijmegen breakage syndrome. BMC Pediatr. 2023;23(1):189. https://doi.org/10.1186/s12887-023-03929-y
  10. Mezhevikina GS, Vagner VD, Lavrenyuk EA. Normativnoe pravovoe regulirovanie okazaniya meditsinskoy pomoshchi bol'nym s predrakovymi sostoyaniyami i zlo- kachestvennymi novoobrazovaniyami organov i tkaney rta v Ryazanskoy oblas- ti [Regulatory legal regulation of medical care for patients with precancerous conditions and malignant neoplasms of the organs and tissues of the mouth in the Ryazan Region]. Nauka molodykh – Eruditio Juvenium. 2023;11(2):289-97. https://doi.org/HMJ2023112289-297
  11. Mizernitskiy YL, Zorina IE, Ryngachenko ES Kuzmina TN, Deripapa EV, Rodina YuA, i dr. Maski immunodefitsita: slozhnyy diagnosticheskiy sluchay sindroma Niyme- gen [Immunodeficiency masks: A complex diagnostic case of Nijmegen breakage syndrome]. Rossiyskiy vestnik perinatologii i pediatrii. 2023;68(6):94-8. https:// doi.org/10.21508/1027-4065-2023-68-6-94-98
  12. Otahalova B, Volkova Z, Soukupova J, Kleiblova P, Janatova M, Vocka M, et al. Importance of germline and somatic alterations in human MRE11, RAD50, and NBN genes coding for MRN complex. Int J Mol Sci. 2023;24(6):5612. https://doi. org/10.3390/ijms24065612

Authors' information:

Kucheneva Elena Alekseevna,
Undergraduate Student, Pediatric Faculty, I.P. Pavlov Ryazan State Medical University
ORCID ID: 0009-0008-9853-0857
Е-mail: lelya.kucheneva@mail.ru

Belykh Natalia Anatolievna,
Candidate of Medical Sciences, Associate Professor, Head of the Department of Faculty and Polyclinic Pediatrics, I.P. Pavlov Ryazan State Medical University
ORCID ID: 0000-0002-5533-0205
Е-mail: nbelyh68@mail.ru

Deeva Yuliya Vitalievna,
Assistant Professor, Department of Faculty and Polyclinic Pediatrics, I.P. Pavlov Ryazan State Medical University
ORCID ID: 0000-0003-0975-1137
Е-mail: yudeeva80@mail.ru

Lebedev Vyacheslav Vyacheslavovich,
Candidate of Medical Sciences, Assistant Professor, Department of Faculty and Polyclinic Pediatrics, I.P. Pavlov Ryazan State Medical University
ORCID ID: 0000-0002-0213-3304
Е-mail: lebedev@hemacenter.org

Information about support in the form of grants, equipment, medications

The authors did not receive financial support from manufacturers of medicines and medical equipment

Conflicts of interest: No conflict

Address for correspondence:

Deeva Yuliya Vitalievna
Assistant Professor, Department of Faculty and Polyclinic Pediatrics, I.P. Pavlov Ryazan State Medical University

390026, Russian Federation, Ryazan, Vysokovoltnaya str., 9

Tel.: +7 (961) 1314872

Е-mail: yudeeva80@mail.ru


This work is licensed under a Creative Commons Attribution 4.0 International License.

Materials on the topic:
  1. HYPERSENSITIVITY PNEUMONITIS IN AN INFANT: A CLINICAL CASE
  2. DEVELOPMENT OF APPROACHES TO TREATMENT OF CHILDREN WITH RARE AUTOIMMUNE DISEASES: A PHILOSOPHICAL PERSPECTIVE REVIEW
  3. MICROVASCULAR BED CHARACTERISTICS IN A CHILD WITH SEVERE UNCONTROLLED BRONCHIAL ASTHMA: A CASE REPORT AND LITERATURE REVIEW
  4. ANTIOXIDANT STATUS AND LIPID PEROXIDATION IN HEREDITARY HEMOLYTIC ANEMIA IN CHILDREN
  5. ACUTE RHEUMATIC FEVER IN CHILDREN
  6. MORBIDITY AMONG CHILDREN AGED 1 TO 14 YEARS IN THE REGIONS OF THE REPUBLIC OF TAJIKISTAN WITH HIGH BACKGROUND IONIZING RADIATION
  7. PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN
  8. THE QUALITY OF LIFE OF PARENTS OF CHILDREN WITH BRONCHIAL ASTHMA
  9. CASE REPORT: FAMILIAL WISKOTT-ALDRICH SYNDROME
  10. EXTERNAL RESPIRATION AND BLOOD GAS COMPOSITION IN CHILDREN WITH HEREDITARY HEMOLYTIC ANEMIA

◄ Back to the list