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| paroxysmal_tonic_gaze_infants [2026/09/20 11:08] – Scott Larson | paroxysmal_tonic_gaze_infants [2026/09/20 11:13] (current) – Scott Larson | ||
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| ==== Benign Tonic Upgaze vs. Tonic Downgaze in Infants ==== | ==== Benign Tonic Upgaze vs. Tonic Downgaze in Infants ==== | ||
| - | **No — benign | + | |
| + | | ||
| === Benign (paroxysmal) tonic upgaze (PTU) === | === 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/ | + | * Characterized by episodes of **sustained conjugate upward deviation of the eyes**, with compensatory neck flexion (chin-down posture) and **incomplete/ |
| - | * Onset is typically within the first year (mean age of onset ~5–6 months, though reported from the first week to age 7). [[link|Lazar & Abid, Neurology 2024]] [[link|Bonnet et al., Mov Disord 2010]]* | + | * 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, | + | * Features include **diurnal fluctuation, |
| - | * Historically considered benign with eventual resolution, but the label is misleading: substantial proportions have **developmental delay, cognitive dysfunction, | + | * Historically considered benign with eventual resolution, but the label is misleading: substantial proportions have **developmental delay, cognitive dysfunction, |
| === Paroxysmal tonic downgaze of infancy === | === 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 " | + | * Characterized by **tonic downward deviation of the eyes** (often slightly exotropic), with intermittent upward saccades — the mirror image of PTU. Also described as " |
| - | * An idiopathic/ | + | * An idiopathic/ |
| - | * 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/ | + | * 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/ |
| === Key distinctions === | === Key distinctions === | ||
| ^ Feature ^ Benign tonic upgaze (PTU) ^ Tonic downgaze of infancy ^ | ^ Feature ^ Benign tonic upgaze (PTU) ^ Tonic downgaze of infancy ^ | ||
| - | |||
| | Eye deviation | Sustained upward, with chin-down neck flexion | Sustained downward, often exotropic/ | | Eye deviation | Sustained upward, with chin-down neck flexion | Sustained downward, often exotropic/ | ||
| - | |||
| | Saccade correction | Down-beating saccades on attempted downgaze | Intermittent upward saccades | | | 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 | | | Typical onset | First year, mean ~5–6 mo | Very early (days–12 wk) in benign form | | ||
| - | |||
| | Prognosis/ | | Prognosis/ | ||
| - | Both are on the differential of nonepileptic paroxysmal eye-movement phenomena of infancy and can be mistaken for seizures, so video documentation and normal EEG during events are useful in distinguishing them from epilepsy. | + | 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 ===== | ===== References ===== | ||
| - | - [[link|Lazar SM, Abid F. Pearls & Oy-Sters: CACNA1A-Related Paroxysmal Tonic Upgaze With Ataxia Responsive to Acetazolamide. Neurology. 2024]] | + | - [[https:// |
| - | - [[link|Kartal A. Paroxysmal Tonic Upgaze in Children: Three Case Reports and a Review of the Literature. Pediatr Emerg Care. 2019]] | + | - [[https:// |
| - | - [[link|Bonnet C, Roubertie A, Doummar D, et al. Developmental and benign movement disorders in childhood. Mov Disord. 2010]] | + | - [[https:// |
| - | - [[link|Humbertclaude V, Krams B, Nogue E, et al. Benign Paroxysmal Torticollis, | + | - [[https:// |
| - | - [[link|Hayman M, Harvey AS, Hopkins IJ, et al. Paroxysmal Tonic Upgaze: A Reappraisal of Outcome. Ann Neurol. 1998]] | + | - [[https:// |
| - | - [[link|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:// |
| - | - [[link|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:// |
| - | - [[link|Maney K, Pizoli C, Russ JB. Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review. Neurology. 2023]] | + | - [[https:// |