Introduction: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a neuroregressive disorder associated with subacute encephalopathy, confusion, dysarthria, and dysphagia, as well as occasional external ophthalmoplegia or supranuclear facial nerve palsy. It may progress to severe rigidity, dystonia, and quadriparesis. Combination therapy of high-dose thiamine and biotin helps to control the symptoms and prevent progression of the disease. Methods: This retrospective, cross-sectional study was conducted at King Fahad Medical City in Riyadh, Saudi Arabia, to investigate the demographic, clinical features, treatment response, outcomes, and predictive factors of BTBGD in the pediatric population. Results: Twenty-five records of pediatric patients diagnosed with BTBGD were included in the study. The most common symptoms observed at presentation were ataxia in 13 patients (52%), followed by developmental regression in 11 patients (44%), and seizures in 7 patients (28%). Statistically significant associations were found between patient’s age of presentation, seizures at presentation, lactate level and their health outcomes. Multivariate logistic regression analysis revealed significant differences in patient outcomes (prognosis) based on their age at presentation, seizures, and lactate levels (p < 0.001); with lactate levels found to be 0.211 times likely to predict patient outcomes. Furthermore, age at first presentation and the presence of seizures were associated with negative health outcomes, with regression coefficients of B = ？0.009 and B = ？0.561, respectively. Conclusion: This study reported BTBGD in 25 pediatric patients in Saudi Arabia. Age at presentation, seizures, and lactate levels were found to be significantly associated with patient health outcomes. Increasing public awareness of the condition, particularly among parents and pediatricians, is imperative. Early diagnosis, along with timely management using biotin and thiamine supplementation, promotes improved health outcomes and prevents progressive neurodegeneration and death.
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