Mutation in the TANGO2 gene in a pediatric patient

Case presentation: Patient A.S.P, male, two years old, started with fever on June 2021 associated others viral symptoms. Three days after, he was admitted the pediatric emergency room hypotonia of trunk and limbs. He also referred pain paresis mainly in lower Transferred to intensive care unit evolved dysphagia worsening motor condition, maintaining only eye movement. required a nasoenteric tube did not need ventilatory support. On eleventh day, spontaneous progressive improvement condition. discharged beginning July mild cervical hypotonia, sitting without support receiving oral feeding. In December March 2022, sought again same After first hospitalization, follow-up outpatient investigation began. performed several laboratory tests, diagnosis made through DNA genetic test, which showed mutation TANGO2 gene.