Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report.

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTRBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine. BTRBGD is caused by mutations in the SLC19A3 gene on chromosome 2q36.6, encoding human thiamine transporter 2 (hTHTR2). Episodes of BTRBGD are often triggered by febrile illness. CASE REPORT: The patient was 2 years 10 months old male child presented with fever and progressive acute encephalopathy associated with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) virus infection. MRI revealed bilateral symmetrical high signal involving both basal ganglia and medial thalami which is swollen with central necrosis, initially diagnosed as acute necrotizing encephalomyelitis with increased severity. Genetic analysis revealed BTRBGD. CONCLUSION: BTRBGD requires high index of suspicion in any patient presenting with acute encephalopathy, characteristic MRI findings (that are difficult to differentiate from necrotizing encephalopathy), regardless of the existence of a proven viral infection.

The Effectiveness of Pre- and Postoperative Infliximab in Controlling Behçet's Disease Posterior Uveitis in Patients Undergoing Vitrectomy: A Preliminary Study.

Purpose. To evaluate the short-term effectiveness of infliximab in controlling ocular manifestations in Behçet's Disease (BD) patients candidate for pars plana vitrectomy, if given in a regimen before and after the planned procedure. Patients and Methods. 30 eyes of 27 adult male BD patients with a mean age of 35.56 yrs presented with refractory posterior uveitis not responding to immunosuppressive drugs and candidate for vitrectomy were included. Infliximab was given in a dose of 5 mg/kg intravenous infusion once every two weeks for 3 treatment sessions before the intended vitrectomy followed by 3 treatment sessions at two-week intervals, after vitrectomy. Results. Improvement of ocular manifestations was noted in all eyes, with complete resolution in 26 eyes (87%). Visual acuity improved from 0.23 ± 0.11 to 0.38 ± 0.17 (p ≤ 0.2), ESR decreased from 65.92 mm/hr ± 17.32 SD to 24.93 mm/hr ± 5.28 SD at the last treatment cycle (p ≤ 0.1). The mean daily dose of systemic corticosteroids was tapered from 44.54 mg/d ± 2.89 to 8.48 mg/d ± 6.38 (p ≤ 0.2), and no relapses were noted during the follow-up period. Conclusion. Infliximab may be safe and effective in controlling posterior uveitis and inducing remissions if given in a regimen before and after vitrecomy in BD patients.

The Effectiveness of Intraocular Methotrexate in the Treatment of Posterior Uveitis in Behçet's Disease Patients Compared to Retrobulbar Steroids Injection.

Aim of Work. To evaluate the efficacy of intravitreal methotrexate (MTX) compared to retrobulbar triamcinolone acetonide (TAA), in controlling posterior segment involvement and inducing remissions among Behçet's disease (BD) patients. Study Design. This is a cross-sectional nonrandomized comparative study. Patients and Methods. 31 adult BD male patients with a mean disease duration of 5.45 years who presented with bilateral posterior segment involvement were included. Each patient received intravitreal injection of 400 µg/0.1 mL (MTX) for the right eye (Group A) and 1 mL of retrobulbar 40 mg/mL TAA for the left eye (Group B). Results. 90% of eyes showed complete improvement of anterior chamber reaction, whereas an improvement in vitreous activity in 77% with no significant differences between both groups (p ≤ 0.1). BCVA improved in 77.4% eyes (Group A) compared to 87.1% (Group B) (p ≤ 0.4). Relapses were noted in 11 eyes (35.5%), in group A, with the mean duration of remission being 19.1 weeks ± 2.13 compared to 7.35 ± 2.8 in 20 eyes (64.5%) in group B (p ≤ 0.1). Conclusion. No statistical differences were found between both treatment modalities; however, based on clinical observations, intravitreal MTX may ensure better control of inflammatory reaction and may encourage longer remission as compared to retrobulbar TAA in BD patients.