Abstract: The following case study reviews an incident in which a three months old Saudi infant diagnosed with BTRBGD is admitted through the Emergency. The patient presented to the ER with lethargy and decreased activity. Despite the fact that extensive literature reviews the successful effects of early biotin and thiamine administration in treating Basal Ganglia Disease (a neurometabolic disorder characterized by confusion and seizures among other symptoms), the case study reviewed below suggests that BTRBGD may in fact be unresponsive in cases in which the disease first develops during early infancy. This conclusion is primarily drawn from the fact that despite attempted treatment, the patient’s case resulted in death.
Keywords: Biotin-Thiamine-Responsive Basal Ganglia Disease, BTBGD, Basal Ganglia Disease.
Title: Case Report: Non-Responsive Biotin-Thiamine-Responsive Basal Ganglia Disease
Author: Mohammad Abdulaziz Alhasoon
International Journal of Healthcare Sciences
ISSN 2348-5728 (Online)
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