Paroxysmal Upgaze in an Adult; Not always a Seizure, a Case Report
Hazim Brohi, Ayman Nasir*and Hina Nadeem
ABSTRACT
Background: Paroxysmal Tonic Upgaze (PTU) is a rare neuro-ophthalmological syndrome typically observed in infancy or early childhood. Adult-onset and recurrent forms are exceedingly uncommon and may mimic other neurological or functional disorders, making diagnosis particularly challenging.
Case Presentation: We report a rare case of a 20-year-old male presenting with recurrent episodes of sustained upward eye deviation, preserved consciousness, and spontaneous resolution after sleep Seizures, fever, or neurological impairments were not linked to the events. The brain MRI, EEG,and neurological evaluation were all normal. Interestingly, the patient’s sister’s comparable experience raises the possibility of a family susceptibility. The clinical picture was in line with idiopathic, familial PTU, even though genetic testing was not widely available.
Discussion: This case illustrates the diagnostic difficulty of adult-onset PTU due to its rare occurrence and resemblance to conditions like seizures and oculogyric crisis, underscoring the need to recognize its benign course and characteristic features to avoid misdiagnosis and unnecessary treatment.
Conclusion: Adult-onset, familial PTU is an exceptionally rare entity. Increased awareness among clinicians is crucial for timely recognition and management. Further research is warranted to explore the genetic basis and spectrum of atypical PTU presentations.
