|Year : 2022 | Volume
| Issue : 2 | Page : 123
Paroxysmal tonic upgaze in an infant: A clinician's dilemma
Rahul Sinha1, Sonali Singh2, Jaideep Locham3
1 Department of Pediatrics, Command Hospital, Panchkula, Haryana, India
2 Department of Pediatrics, Institute of Neurosciences, Kolkata, West Bengal, India
3 Department of Pediatrics, Military Hospital, Jammu, Jammu and Kashmir, India
|Date of Submission||17-Jan-2022|
|Date of Decision||23-Jan-2022|
|Date of Acceptance||27-Jan-2022|
|Date of Web Publication||30-May-2022|
Dr. Rahul Sinha
Department of Pediatrics, Command Hospital, Chandimandir, Panchkula, Haryana
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Sinha R, Singh S, Locham J. Paroxysmal tonic upgaze in an infant: A clinician's dilemma. Indian Pediatr Case Rep 2022;2:123
A 12-month-old boy presented with multiple episodes of looking upward for 3 days, more during the early morning. The duration varied from few seconds to minutes, and there was no loss of consciousness [Figure 1]. The antenatal period was normal. The child was born at term by cesarean section (indication previous cesarean). The birth weight was 3.5 kg. The baby was kept under observation for 48 hours for transient perinatal depression at birth but was discharged uneventfully. There was no significant past or family history. The development was proceeding normally according to acquisition of milestones. Vital parameters, anthropometry, general physical, ophthalmological, neuro-developmental, and systemic examinations were normal. The parents brought a recording of the event [Video 1][Additional file 1]. Blood sugar, serum electrolytes, brain magnetic resonance imaging, and video electroencephalography (EEG) were normal. A diagnosis of paroxysmal tonic upgaze (PTU) was made. The parents were advised whole exome sequencing and counseled about the disorder. The child is under follow-up. No medications have been started.
PTU is a rare nonepileptic paroxysmal dystonia occurring during infancy and early childhood. It is characterized by the recurrent episodes of sustained bilateral upward ocular deviation with downbeating nystagmus in attempted down gaze, normal horizontal eye movements, occasional ataxia, and without altered sensorium. They are frequently misdiagnosed with focal or absence seizures, salient differentiating features being semiology and normal video EEG., The exact pathogenesis is still unknown, although mutations have been found in the CACNA1A, GRID2, and SEPSECS genes, also associated with ataxia., The prognosis is good with a benign course and symptomatic resolution within months. There is no role of anti-convulsant drugs.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given her consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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