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Year : 2022  |  Volume : 2  |  Issue : 2  |  Page : 123

Paroxysmal tonic upgaze in an infant: A clinician's dilemma

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 Submission17-Jan-2022
Date of Decision23-Jan-2022
Date of Acceptance27-Jan-2022
Date of Web Publication30-May-2022

Correspondence Address:
Dr. Rahul Sinha
Department of Pediatrics, Command Hospital, Chandimandir, Panchkula, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_15_22

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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

How to cite this URL:
Sinha R, Singh S, Locham J. Paroxysmal tonic upgaze in an infant: A clinician's dilemma. Indian Pediatr Case Rep [serial online] 2022 [cited 2022 Jul 4];2:123. Available from: http://www.ipcares.org/text.asp?2022/2/2/123/346249

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.
Figure 1: Infant displaying paroxysmal tonic upgaze

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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.[1],[2] The exact pathogenesis is still unknown, although mutations have been found in the CACNA1A, GRID2, and SEPSECS genes, also associated with ataxia.[3],[4] 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.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Lispi ML, Vigevano F. Benign paroxysmal tonic upgaze of childhood with ataxia. Epileptic Disord 2001;3:203-6.  Back to cited text no. 1
Ouvrier R, Billson F. Paroxysmal tonic upgaze of childhood – A review. Brain Dev 2005;27:185-8.  Back to cited text no. 2
Blumkin L, Leshinsky-Silver E, Michelson M, et al. Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A. Eur J Paediatr Neurol 2015;19:292-7.  Back to cited text no. 3
Kartal A. Paroxysmal tonic upgaze in children: Three case reports and a review of the literature. Pediatr Emerg Care 2019;35:e67-9.  Back to cited text no. 4


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