Physical Development of Children with Nijmegen Syndrome

Background. Physical development (FD) is one of the indicators of child’s health in general and early diagnosis of primary immunodeficiencies.

Nijmegen Syndrome is a combined primary immunodeficiency represented by chromosomal instability and characteristic clinical manifestations: microcephaly, physical development lag, specific dislocations of the facial skeleton, as well as frequent recurrent infections, increased sensitivity to radiation, and predisposition to the implementation of malignant lymphoid processes. Most patients of Slavic origin have a homozygous mutation in the NBS1 gene. About 80-90% of patients with primary immunodeficiencies remain undiagnosed, including children with Nijmegen Syndrome.

Objective. It was carried out an assessment of 6 patients’ with diagnosed Nijmegen syndrome physical development in the Ternopil region (5 boys and 1 girl, aged from 1 to 12).

Methods. Assessment of physical development was conducted in accordance with:

- norms proposed by WHO (Order No. 149, Ukraine’s Ministry of Health, 2008) for children under 5 years old;

- censored schedules of growth and mass (Order No. 254, Ukraine’s Ministry of Health of Ukraine, 2006) for children over 5 years old.

Results. All patients had a delay in body weight and growth since birth. There was also a significant difference in head circumference – microcephaly, detected in all patients. It was the main diagnostic criterion for the Nijmegen Syndrome (besides genetic confirmation).

Conclusion. The delay in weight and growth is one of ten alarming primary immunodeficiencies proposed by a number of primary immunodeficiency foundations in the world. This indicator, together with microcephaly, is a clinical criterion for the Nijmegen Syndrome and can help to diagnose the problem in the early period. Child Nijmegen Syndrome is subject to compulsory early diagnosis among the Ukrainian population due to its prevalence in Slovyans. Proper diagnosis of this pathology will allow to start therapy faster, prevent complications and reduce health care costs.