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A 10-month-old Bahraini boy born full-term to first-degree cousins, initially had normal developmental milestones, but presented with recurrent encephalopathy and seizures associated with upper respiratory tract infection. With each attack, the patient developmentally regressed further. Brain magnetic resonance imaging showed multiple old and new infarcts. Cerebrospinal fluid biochemistry, microbiology, and amino acids were unremarkable. Tandems mass spectrometry of urine organic acids was unremarkable as well. Electroencephalogram showed asymmetry with cortical irritability. Whole exome sequencing revealed a homozygous mutation of RAN-binding protein 2 gene, suggesting a diagnosis of susceptibility to infection-induced acute encephalopathy 3, which is an autosomal dominant condition. This is the first case to be reported in Bahrain.

Discussion Current practice at our Centre, as judged against the BSPAR/RCO standards of care, is suboptimal. We report a delay in access to an Ophthalmologist for initial slit-lamp examination following JIA diagnosis and follow-up reviews are less frequent than is best practice. This audit has highlighted need for improvement in the provision of care for our patients with JIA and we intend to utilise this data as the basis for future quality improvement initiatives.