FP798 : Not everything is Rheumatoid!(A Case Report on BLAU syndrome)

Dr.SAI DHEERA MULASTHANAM, S21315

Uveitis in children is less common than in adults,hence early diagnosis and management can be very challenging. Here we describe two rare cases of pediatric uveitis diagnosed and treated in our centre.

Both our patients, a 8 year old boy and 7 year old girl, presented to us with redness associated with defective vision.While one patient gave history of rashes and joint pain,with a contact history of tuberculosis, the other was actually a diagnosed case of juvenile rheumatoid arthritis, currently not on any treatment. On examination both the patients had granulomatous uveitis. After further investigation,we concluded a rare diagnosis –Blau syndrome(sporadic).One of our cases was genetically proven for the characteristic NOD 2 mutation of this syndrome.

Previously called arthro-cutaneo-uveal granulomatosis Blau syndrome is a rare genetic condition with an unknown incidence. It is usually autosomal dominant in transmission however sporadic mutations have also been documented.