Open access
Aug 2026
From Metabolic Crises to Epileptic Encephalopathy: TANGO2 Deficiency Disorder due to Homozygous Multi-exon Deletion.
A 5-year-old boy with normal early development followed by fever-triggered metabolic encephalopathy from 10 months, associated with severe high anion-gap metabolic acidosis developed epileptic spasms with hypsarrhythmia, evolving into refractory epilepsy and profound developmental impairment.
Shagun Singh, S. Paliwal, Shubham Raj et al.
· Journal of Child Neurology · 0 citations