Blau syndrome: a case report from Palestine.

ABSTRACT:

Background

This case study documents the first familial case of Blau syndrome (BS) in Palestine characterized with mutation in CARD15/NOD2.

Case presentation

Eighteen years old female was initially misdiagnosed with Juvenile idiopathic arthritis (JIA). The patient had been on steroids and methotrexate treatment for the last 16 years, but did not respond well to treatment. Initial examination at Saint John of Jerusalem Eye Hospital Group clinic showed bilateral intermediate uveitis with camptodactyly. The patient's sister (aged 19 years) had bilateral intermediate uveitis and camptodactyly. Both eyes of their father had signs of old posterior uveitis. Father's left eye showed 360 degrees posterior synechia, mature cataract with old Keratic precipitates (KPs). He also had camp

SUBMITTER: Iriqat S 

PROVIDER: S-EPMC8406922 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature