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paroxysmal_tonic_gaze_infants [2026/09/20 11:06] – Scott Larsonparoxysmal_tonic_gaze_infants [2026/09/20 11:13] (current) – Scott Larson
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 ====== Paroxysmal Tonic Gaze Vertical Gaze Phenomena of infancy ====== ====== Paroxysmal Tonic Gaze Vertical Gaze Phenomena of infancy ======
  
-[[paroxysmal_tonic_gaze_infants|Paroxysmal Tonic UpGaze]] +see also: [[tonic_downgaze_children|Paroxymsal Tonic DownGaze]] 
-[[tonic_downgaze_children|Paroxymsal Tonic DownGaze]]+ 
 +Below is the response formatted in DokuWiki syntax. Since source URLs were not provided in the retrieved citations, the link targets are left as placeholders for insertion. 
 + 
 +==== Benign Tonic Upgaze vs. Tonic Downgaze in Infants ==== 
 + 
 +  * Benign (paroxysmal) tonic upgaze and paroxysmal tonic downgaze of infancy are two distinct entities 
 +  * Defined by opposite directions of vertical eye deviation and by different clinical courses, associations, and workup implications.  
 + 
 +=== Benign (paroxysmal) tonic upgaze (PTU) === 
 + 
 +  * Characterized by episodes of **sustained conjugate upward deviation of the eyes**, with compensatory neck flexion (chin-down posture) and **incomplete/down-beating saccades on attempted downgaze**; horizontal eye movements are normal and consciousness is preserved.  
 +  * Onset is typically within the first year (mean age of onset ~5–6 months, though reported from the first week to age 7).  
 +  * Features include **diurnal fluctuation, relief with sleep, exacerbation by febrile illness/fatigue, and frequently associated ataxia**.  
 +  * Historically considered benign with eventual resolution, but the label is misleading: substantial proportions have **developmental delay, cognitive dysfunction, or abnormal neurological findings**, and it is increasingly recognized as part of a neurodevelopmental spectrum with identified genetic bases, especially **CACNA1A** (also KCNA1, FGF14, GRID2). One acetazolamide-responsive form is CACNA1A-related. 
 + 
 +=== Paroxysmal tonic downgaze of infancy === 
 + 
 +  * Characterized by **tonic downward deviation of the eyes** (often slightly exotropic), with intermittent upward saccades — the mirror image of PTU. Also described as "benign positional vertical opsoclonus," often occurring in the **supine position**.  
 +  * An idiopathic/benign form occurs in term infants, presents very early (days to ~12 weeks), and **resolves spontaneously (often by ~6 months) with normal development and neuroimaging**; a comprehensive workup may be unnecessary in classic benign cases.  
 +  * However, symptomatic tonic downgaze is strongly associated with **CNS injury** — particularly periventricular leukomalacia and hypoxic-ischemic injury in preterm infants, correlating with subcortical visual loss, spastic diplegia/quadriplegia, and developmental delay. It can also be the presenting sign of serious treatable disease (e.g., biotin-thiamine-responsive basal ganglia disease, so context-dependent evaluation is essential.  
 + 
 +=== Key distinctions === 
 + 
 +^ Feature ^ Benign tonic upgaze (PTU) ^ Tonic downgaze of infancy ^ 
 +| Eye deviation | Sustained upward, with chin-down neck flexion | Sustained downward, often exotropic/supine-triggered | 
 +| Saccade correction | Down-beating saccades on attempted downgaze | Intermittent upward saccades | 
 +| Typical onset | First year, mean ~5–6 mo | Very early (days–12 wk) in benign form | 
 +| Prognosis/associations | Often part of neurodevelopmental spectrum; CACNA1A and other genes | Benign form resolves; symptomatic form linked to PVL/HIE, metabolic disease | 
 + 
 +Both are on the differential of nonepileptic paroxysmal eye-movement phenomena of infancy and can be [[detecting_seizures_during_pediatric_eye_exam|mistaken for seizures]], so video documentation and normal EEG during events are useful in distinguishing them from epilepsy.  
 + 
 +===== References ===== 
 + 
 +  - [[https://pubmed.ncbi.nlm.nih.gov/38175838|Lazar SM, Abid F. Pearls & Oy-Sters: CACNA1A-Related Paroxysmal Tonic Upgaze With Ataxia Responsive to Acetazolamide. Neurology. 2024]] 
 +  - [[https://pubmed.ncbi.nlm.nih.gov/29095389|Kartal A. Paroxysmal Tonic Upgaze in Children: Three Case Reports and a Review of the Literature. Pediatr Emerg Care. 2019]] 
 +  - [[https://onlinelibrary.wiley.com/doi/10.1002/mds.22944|Bonnet C, Roubertie A, Doummar D, et al. Developmental and benign movement disorders in childhood. Mov Disord. 2010]] 
 +  - [[https://pubmed.ncbi.nlm.nih.gov/29926469|Humbertclaude V, Krams B, Nogue E, et al. Benign Paroxysmal Torticollis, Benign Paroxysmal Vertigo, and Benign Tonic Upward Gaze Are Not Benign Disorders. Dev Med Child Neurol. 2018]] 
 +  - [[https://pubmed.ncbi.nlm.nih.gov/9546334|Hayman M, Harvey AS, Hopkins IJ, et al. Paroxysmal Tonic Upgaze: A Reappraisal of Outcome. Ann Neurol. 1998]] 
 +  - [[https://pubmed.ncbi.nlm.nih.gov/24101752|Rodan LH, Tein I, Buncic R. Clinical Reasoning: A Case of Abnormal Eye Movements in an Infant: More Than Meets the Eye. Neurology. 2013]] 
 +  - [[https://pubmed.ncbi.nlm.nih.gov/28903967|Sternfeld A, Lobel D, Leiba H, et al. Long-Term Follow-Up of Benign Positional Vertical Opsoclonus in Infants: Retrospective Cohort. Br J Ophthalmol. 2018]] 
 +  - [[https://pubmed.ncbi.nlm.nih.gov/36657988|Maney K, Pizoli C, Russ JB. Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review. Neurology. 2023]]