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Abstract

Introduction: Acute non-traumatic tetraplegia is an infrequent presentation in the pediatric emergency department, with thiamine metabolism dysfunction syndrome (TMDS) representing an even rarer cause. This article aims to report a case of acute and transient non-traumatic tetraplegia secondary to TMDS. Case Report: A previously healthy 1-year-and-3-month-old girl, with expected neurodevelopment was admitted with an acute onset of flaccid paraplegia, progressing to spastic tetraplegia. Initial laboratory tests were unremarkable. Cranial magnetic resonance imaging revealed changes in the basal ganglia, manifested as bilateral and symmetrical oval hypodensities with increased areas of permeation cavitation. Proton spectroscopy showed no clear lactate peak, indicative of an indeterminate nature. Whole exome sequencing identified heterozygosity of the SLC19A3 gene, compatible with TMDS. High-dose biotin and thiamine replacement therapy led to progressive symptom improvement and complete recovery. Discussion and Conclusion: TMDS-2 is an autosomal recessive neurometabolic condition caused by dysfunction of the SLC19A3 gene, often triggered by febrile illness. Thiamine, an essential vitamin crucial for cellular metabolism, is disrupted in this syndrome due to defects in genes encoding proteins involved in thiamine transport and metabolism. The clinical phenotype varies and can include encephalopathy, seizures, dysarthria, ophthalmoplegia, abnormal gait, areflexia, dystonia, and even death. Brain MRI typically reveals symmetrical changes in the basal ganglia. Treatment involves immediate thiamine and biotin supplementation, usually administered intravenously for acute cases and orally for chronic cases.

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