23124805 Visualization

The patient, a 4 Age - year Age - old Age boy Sex , was diagnosed as having Blau Disease_disorder syndrome Disease_disorder based on the manifestation of typical clinical features ( ankle Biological_structure and wrist Biological_structure arthritis Disease_disorder / tenosynovitis Disease_disorder , diffuse Detailed_description eczematous Biological_attribute rash Sign_symptom , and uveitis Disease_disorder ), histologic Diagnostic_procedure evidence of noncaseating Detailed_description granulomas Disease_disorder , and a heterozygous Detailed_description NOD2 Diagnostic_procedure mutation Diagnostic_procedure ( p.R334W Diagnostic_procedure ).
Ocular Disease_disorder involvement Disease_disorder was initially controlled Detailed_description by topical Administration and oral Administration corticosteroids Medication , but over Duration the Duration years Duration visual Disease_disorder impairment Disease_disorder progressed Detailed_description .
Other manifestations of Blau Disease_disorder syndrome Disease_disorder ( arthritis Disease_disorder and rash Sign_symptom ) subsided Detailed_description over Duration time Duration .
Bilateral Detailed_description panuveitis Disease_disorder progressed Detailed_description after age Date 5 Date years Date , and was initially treated with methotrexate Medication .
However, ocular Biological_structure inflammation Disease_disorder persisted Detailed_description despite the addition of local Detailed_description steroid Medication injections Administration and repeated Detailed_description intravenous Administration (IV) Administration bolus Administration methylprednisolone Medication treatment Medication ; therefore, when the patient was age Date 10 Date years Date , infliximab Medication (initially at 5 Dosage mg/kg Dosage increased to 10 Dosage mg/kg Dosage IV Administration every Dosage 4 Dosage to Dosage 6 Dosage weeks Dosage ) was initiated.
Although there was an initial improvement, 1 Date year Date after Date this Date treatment Date was Date started Date uveitis Disease_disorder worsened Severity , and at age Date 12 Date years infliximab Medication was discontinued Detailed_description .
Adalimumab Medication ( 24 Dosage mg/m2 Dosage every Dosage 2 Dosage weeks Dosage ) was then initiated and the dosage of methotrexate Medication ( 15 Dosage mg/m2/weekly Dosage ) was increased Lab_value .
However, ocular Disease_disorder disease Disease_disorder remained active Detailed_description .
Mycophenolate Medication mofetil Medication ( 750 Dosage mg/m2 Dosage ) and then abatacept Medication ( 10 Dosage mg/kg/month Dosage IV Administration ) were sequentially administered, without Diagnostic_procedure significant Diagnostic_procedure improvement Diagnostic_procedure .
At age Date 16 Date years Date the patient still had granulomatous Disease_disorder retinal Biological_structure lesions Disease_disorder and anterior Biological_structure chamber Biological_structure inflammation Disease_disorder , and macular Biological_structure edema Sign_symptom developed, which led to retinal Disease_disorder detachment Disease_disorder .
In addition to the other steroid therapy, corticosteroid Medication pulse Medication therapy Medication was necessary to control disease flares, with an Lab_value average Lab_value of Lab_value 3 Dosage boluses/month Dosage for 6 Duration consecutive Duration months Duration .
Because of the supposed autoinflammatory nature of Blau syndrome, we initiated a trial of IL-1 antibody Medication administration Medication ( 2 Dosage mg/kg/month Dosage of canakinumab Medication ).
During the 6 months that followed, no ocular Disease_disorder flare Disease_disorder occurred and no steroid Medication pulse Medication therapy Medication was necessary.
Concomitant treatment with oral Administration methotrexate Medication and low Lab_value - dose Lab_value prednisone Medication ( 0.2 Dosage mg/kg/day Dosage ) remained unchanged.
Figure 1 shows fluorangiograms Diagnostic_procedure before treatment and after the first 6 injections.
The Medication drug Medication was well Detailed_description tolerated Detailed_description with Detailed_description no Detailed_description side Detailed_description effects Detailed_description , and findings on laboratory Diagnostic_procedure tests Diagnostic_procedure (performed monthly Frequency ) were normal Detailed_description .