Juvenile idiopathic arthritis in a child with nijmegen breakage syndrome

Agnieszka Gazda,Iwona Czerwińska-Kartowicz,Beata Kołodziejczyk,Małgorzata Pac,Ewa Bernatowska,Lidia Rutkowska-Sak

doi:10.1186/1546-0096-12-s1-p204

Abstract

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder, caused by mutation in the NBS1 gene on chromosome 8q21. The hallmark symptom is microcephaly, other characteristic features are facial phenotype, growth retardation, premature ovarian failure in girls. Psychomotor development is usually not disturbed. Impaired cellular and humoral immunity is essential feature of syndrome. Patients with NBS have an extremely high risk for developing malignancy.

Highlights

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder, caused by mutation in the NBS1 gene on chromosome 8q21
We present 7 y.o. girl with NBS who developed arthritis
In ultrasound inflammation was confirmed in the knee, tendovaginitis of the extensor of 4th finger tendon and flexor of 3rd finger of the right hand

Summary

Introduction

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder, caused by mutation in the NBS1 gene on chromosome 8q21. The hallmark symptom is microcephaly, other characteristic features are facial phenotype, growth retardation, premature ovarian failure in girls. Impaired cellular and humoral immunity is essential feature of syndrome. Patients with NBS have an extremely high risk for developing malignancy

Methods

Results

Conclusion