Paroxysmal Tonic Upgaze in Pediatric Patients With Down Syndrome: A Case Report

Paroxysmal Tonic Upgaze (PTU) is a paroxysmal movement disorder characterized by episodes of sustained upward deviation of the eyes, which can be misidentified as a seizure. There has been no definite association made between PTU and Down syndrome although Down syndrome has been associated with various other ocular and neurologic conditions. This case report describes three patients with Down syndrome who presented with seizure-like activity and were ultimately diagnosed with PTU. Consideration of PTU in a differential diagnosis, especially in patients with a history of Down syndrome, is essential for accurately distinguishing potentially benign conditions from epilepsy and can help clinicians avoid misdiagnosis and unnecessary treatments.