DOI: 10.36347/sjmcr.2022.v10i11.014

Pages: 1122-1124

Nijmegen syndrome (NS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. The diagnosis of NS is established in a proband with characteristic clinical features and biallelic pathogenic variants on molecular genetic testing and/or absent nibrin protein on immunoblotting assay. Early diagnosis is essential to prevent serious infections and unnecessary radiation exposure. There is no specific treatment.