A CLINICAL CASE OF NIJMEGEN BREAKAGE SYNDROME IN A CHILD
TL;DR
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.
Abstract
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.