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| detecting_seizures_during_pediatric_eye_exam [2026/09/20 10:40] – created Scott Larson | detecting_seizures_during_pediatric_eye_exam [2026/09/20 11:02] (current) – [Other Benign Infantile Mimics] Scott Larson |
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| ====== Signs and Symptoms of Seizures detectable Pediatric Eye Exam ====== | ====== Signs and Symptoms of Seizures detectable during the Pediatric Eye Exam ====== |
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| ====== Distinguishing Benign Non-Epileptic Ocular Paroxysmal Events from Seizures in Infants ====== | ====Ictal eye and eyelid signs observable during examination==== |
| | * Behavioral arrest with a fixed stare (pause/stare) and eye involvement |
| | * Among the most frequent semiologic features of childhood absence epilepsy—eye involvement occurred in a substantial proportion of seizures, and staring was nearly universal. |
| | * A child who abruptly stops, stares, and has subtle eye movements or automatisms during an exam may be having an absence seizure |
| | * Tonic eye/gaze deviation and head version |
| | * Conjugate deviation of the eyes (often with head turning) is a classic ictal sign; |
| | * Frontal-eye-field focus typically drives contralateral eye deviation |
| | * Posterior-cortex seizures, eye deviation was seen in about one third of young children |
| | * Ictal nystagmus |
| | * Isolated presentation of focal seizures localizing to the posterior quadrant (occipital, parietal, posterior temporal), with the fast phase directed away from the seizure focus |
| | * Nystagmus was the most common oculomotor feature (≈39%) in symptomatic posterior-cortex seizures in young children. |
| | * Lid myoclonia |
| | * Rapid repetitive blinking, eyelid fluttering, and repeated eye closure |
| | * eyelid myoclonia (~28%) and rapid blinking (~17%) are recognized ictal features, and eyelid fluttering/repeated eye closure are described in childhood occipital visual epilepsy |
| | * Head nodding and opsoclonic movements |
| | * In very young children, myoclonic head nodding is common, and [[opsoclonus|opsoclonus-like]] movements can occur |
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| | ====Visual (sensory) symptoms the child may report or draw==== |
| | * Elementary visual phenomena |
| | * Small multicolored circles/spots seen in peripheral vision, moving horizontally across the field, occur in childhood occipital visual epilepsy |
| | * Younger children may be unable to describe these but can draw them |
| | * Providing coloring pencils is a practical bedside technique |
| | * Complex visual hallucinations or illusions |
| | * palinopsia, micropsia, metamorphopsia, and formed hallucinations point to occipital/temporal onset |
| | * Ictal blindness (amaurosis), scotomas, or hemifield/quadrant visual loss |
| | * "Negative" visual symptoms contralateral to an occipital focus |
| | * Transient visual loss can occur preictally, ictally, or postictally |
| | * Photic-induced visual seizures |
| | * lights, colored spots, or visual blurring triggered by flickering light/video games, often with the sensation of following the visual phenomenon (head/eye version), in photosensitive occipital lobe epilepsy |
| | * Associated features |
| | * Orbital pain |
| | * Postictal migraine-like headache with nausea/vomiting are common accompaniments of occipital seizures |
| | |
| | ===Fundoscopic and neuro-ophthalmologic findings==== |
| | Routine complete ophthalmologic examination after a first seizure has low yield and generally does not alter acute management in a neurologically normal child. |
| | * Papilledema |
| | * Consider neuroimaging, seizure can rarely be the first symptom of a brain tumor. |
| | * Visual field deficits(e.g., homonymous quadrantanopia) may reveal a structural occipital lesion causing seizure |
| | * Characteristic fundus abnormalities |
| | * Chorioretinal lacunae in [Aicardi syndrome] presenting with epileptic spasms and hypsarrhythmia.[10] |
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| | ==== Distinguishing Benign Non-Epileptic Ocular Paroxysmal Events from Seizures in Infants ==== |
| | * Many paroxysmal ocular events in infants are non-epileptic (e.g., spasmus nutans, benign paroxysmal tonic upgaze, opsoclonus, tonic downgaze) |
| | * Often requires polygraphic video-EEG rather than clinical observation alone. |
| | * A history of unprovoked, short-lasting, stereotyped events—supports an epileptic origin |
| | * Visual symptoms alone should not be used to definitively diagnose seizure type, as this can lead to mistreatment |
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| **Preserved consciousness, normal horizontal eye movements, absence of postictal features, and a normal ictal EEG are the key clinical discriminators** that separate benign non-epileptic ocular paroxysmal events from seizures — but because clinical features overlap substantially in infants, polygraphic video-EEG remains the criterion standard when doubt persists ([[https://pubmed.ncbi.nlm.nih.gov/?term=Falsaperla+Ocular+Motor+Paroxysmal+Events+neonates+infants|Falsaperla et al., Pediatr Neurol 2021]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Lorincz-Molnar+Semiological+Features+Epilepsy+Paroxysmal+Non-Epileptic|Lőrincz-Molnár et al., Dev Med Child Neurol 2026]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Kartal+Paroxysmal+Tonic+Upgaze+children|Kartal, Pediatr Emerg Care 2019]]). The single most reliable clinical maneuver is capturing the event (ideally on parental video) and assessing responsiveness, the character of the eye movements, triggers, and the state (sleep vs. wake) during the episode ([[https://pubmed.ncbi.nlm.nih.gov/?term=Falsaperla+Ocular+Motor+Paroxysmal+Events+neonates+infants|Falsaperla et al., Pediatr Neurol 2021]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Lagorio+Paroxysmal+Nonepileptic+Events+children+video+gallery|Lagorio et al., Neurol Clin Pract 2022]]). | **Preserved consciousness, normal horizontal eye movements, absence of postictal features, and a normal ictal EEG are the key clinical discriminators** that separate benign non-epileptic ocular paroxysmal events from seizures — but because clinical features overlap substantially in infants, polygraphic video-EEG remains the criterion standard when doubt persists ([[https://pubmed.ncbi.nlm.nih.gov/?term=Falsaperla+Ocular+Motor+Paroxysmal+Events+neonates+infants|Falsaperla et al., Pediatr Neurol 2021]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Lorincz-Molnar+Semiological+Features+Epilepsy+Paroxysmal+Non-Epileptic|Lőrincz-Molnár et al., Dev Med Child Neurol 2026]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Kartal+Paroxysmal+Tonic+Upgaze+children|Kartal, Pediatr Emerg Care 2019]]). The single most reliable clinical maneuver is capturing the event (ideally on parental video) and assessing responsiveness, the character of the eye movements, triggers, and the state (sleep vs. wake) during the episode ([[https://pubmed.ncbi.nlm.nih.gov/?term=Falsaperla+Ocular+Motor+Paroxysmal+Events+neonates+infants|Falsaperla et al., Pediatr Neurol 2021]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Lagorio+Paroxysmal+Nonepileptic+Events+children+video+gallery|Lagorio et al., Neurol Clin Pract 2022]]). |
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| ===== General Features Favoring a Benign Non-Epileptic Event ===== | === General Features Favoring a Benign Non-Epileptic Event === |
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| * **Retained consciousness/responsiveness** during the episode, with the child able to interact, is characteristic of benign ocular events and argues against most seizure types ([[https://pubmed.ncbi.nlm.nih.gov/?term=Kartal+Paroxysmal+Tonic+Upgaze+children|Kartal, Pediatr Emerg Care 2019]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Bonnet+Developmental+benign+movement+disorders+childhood|Bonnet et al., Mov Disord 2010]]). | * **Retained consciousness/responsiveness** during the episode, with the child able to interact, is characteristic of benign ocular events and argues against most seizure types ([[https://pubmed.ncbi.nlm.nih.gov/?term=Kartal+Paroxysmal+Tonic+Upgaze+children|Kartal, Pediatr Emerg Care 2019]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Bonnet+Developmental+benign+movement+disorders+childhood|Bonnet et al., Mov Disord 2010]]). |
| * **Normal interictal and ictal EEG** with a normal neurodevelopmental trajectory ultimately confirms the benign nature — often a retrospective diagnosis ([[https://pubmed.ncbi.nlm.nih.gov/?term=Paolicchi+Spectrum+Nonepileptic+Events+children|Paolicchi, Epilepsia 2002]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Karpuzcu+Electroencephalography+differential+diagnosis+non-epileptic+paroxysmal+infants|Karpuzcu et al., Seizure 2026]]). | * **Normal interictal and ictal EEG** with a normal neurodevelopmental trajectory ultimately confirms the benign nature — often a retrospective diagnosis ([[https://pubmed.ncbi.nlm.nih.gov/?term=Paolicchi+Spectrum+Nonepileptic+Events+children|Paolicchi, Epilepsia 2002]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Karpuzcu+Electroencephalography+differential+diagnosis+non-epileptic+paroxysmal+infants|Karpuzcu et al., Seizure 2026]]). |
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| ===== Benign Paroxysmal Tonic Upgaze (PTU) ===== | === Benign Paroxysmal Tonic Upgaze (PTU) === |
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| Distinguishing features that separate PTU from seizures (e.g., partial seizures or atypical absences, for which these children are frequently referred) ([[https://pubmed.ncbi.nlm.nih.gov/?term=Bonnet+Developmental+benign+movement+disorders+childhood|Bonnet et al., Mov Disord 2010]]): | Distinguishing features that separate PTU from seizures (e.g., partial seizures or atypical absences, for which these children are frequently referred) ([[https://pubmed.ncbi.nlm.nih.gov/?term=Bonnet+Developmental+benign+movement+disorders+childhood|Bonnet et al., Mov Disord 2010]]): |
| * **Generally normal investigations** (EEG, MRI, CSF neurotransmitters), though PTU can rarely coexist with occipital EEG discharges and be misdiagnosed as epilepsy — video-EEG with the attack captured resolves this. Some cases have a genetic basis (e.g., //CACNA1A//) or structural associations, so persistent/atypical cases warrant workup ([[https://pubmed.ncbi.nlm.nih.gov/?term=Lazar+CACNA1A+Paroxysmal+Tonic+Upgaze+ataxia+acetazolamide|Lazar & Abid, Neurology 2024]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Zhang+Paroxysmal+Tonic+Upgaze+occipital+discharge+electroencephalography|Zhang et al., J Int Med Res 2021]]). | * **Generally normal investigations** (EEG, MRI, CSF neurotransmitters), though PTU can rarely coexist with occipital EEG discharges and be misdiagnosed as epilepsy — video-EEG with the attack captured resolves this. Some cases have a genetic basis (e.g., //CACNA1A//) or structural associations, so persistent/atypical cases warrant workup ([[https://pubmed.ncbi.nlm.nih.gov/?term=Lazar+CACNA1A+Paroxysmal+Tonic+Upgaze+ataxia+acetazolamide|Lazar & Abid, Neurology 2024]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Zhang+Paroxysmal+Tonic+Upgaze+occipital+discharge+electroencephalography|Zhang et al., J Int Med Res 2021]]). |
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| ===== Spasmus Nutans ===== | |
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| * **Classic triad** — **asymmetric or monocular, high-frequency, small-amplitude pendular nystagmus; head nodding; and torticollis/anomalous head position.** The nystagmus (rather than a stare or eye deviation) and its intermittent, fine, shimmering quality are the discriminators from an ictal event ([[https://pubmed.ncbi.nlm.nih.gov/?term=Lagorio+Paroxysmal+Nonepileptic+Events+children+video+gallery|Lagorio et al., Neurol Clin Pract 2022]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Bellini+Spasmus+Nutans+infantile+nystagmus|Bellini et al., Neurology 2022]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Gottlob+Signs+Distinguishing+Spasmus+Nutans+Infantile+Nystagmus|Gottlob et al., Ophthalmology 1990]]). | |
| * **Onset in infancy with self-limited course**, usually resolving within ~2 years ([[https://pubmed.ncbi.nlm.nih.gov/?term=Lagorio+Paroxysmal+Nonepileptic+Events+children+video+gallery|Lagorio et al., Neurol Clin Pract 2022]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Bellini+Spasmus+Nutans+infantile+nystagmus|Bellini et al., Neurology 2022]]). | |
| * **Critical caveat** — benign spasmus nutans cannot be reliably distinguished from spasmus nutans-like disease (chiasmatic/diencephalic gliomas, retinal dystrophies, visual pathway lesions) on eye/head movement recordings alone; **neuroimaging (MRI) and full ophthalmologic/fundoscopic and often electroretinographic evaluation are mandatory** to exclude a structural or retinal cause ([[https://pubmed.ncbi.nlm.nih.gov/?term=Bellini+Spasmus+Nutans+infantile+nystagmus|Bellini et al., Neurology 2022]]; [[https://pubmed.ncbi.nlm.nih.gov/?term=Gottlob+Signs+Distinguishing+Spasmus+Nutans+Infantile+Nystagmus|Gottlob et al., Ophthalmology 1990]]). | |
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| ===== Other Benign Infantile Mimics ===== | ===== Other Benign Infantile Mimics ===== |
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| One important **non-benign mimic** is **Glut1 deficiency syndrome**, in which paroxysmal eye-head movements often begin before 6 months and precede seizures; these gaze-saccade movements are distinguished from opsoclonus by a clear intermovement fixation interval and a same-direction head movement, and recognition matters because the condition is treatable ([[https://pubmed.ncbi.nlm.nih.gov/?term=Pearson+Paroxysmal+Eye-Head+Movements+Glut1+Deficiency|Pearson et al., Neurology 2017]]). | One important **non-benign mimic** is **Glut1 deficiency syndrome**, in which paroxysmal eye-head movements often begin before 6 months and precede seizures; these gaze-saccade movements are distinguished from opsoclonus by a clear intermovement fixation interval and a same-direction head movement, and recognition matters because the condition is treatable ([[https://pubmed.ncbi.nlm.nih.gov/?term=Pearson+Paroxysmal+Eye-Head+Movements+Glut1+Deficiency|Pearson et al., Neurology 2017]]). |
| | |
| | Spasmus Nutans |
| | Benign Tonic Gaze (upgaze or downgaze) |
| |
| ===== Key Principle ===== | ===== Key Principle ===== |
| - [[https://pubmed.ncbi.nlm.nih.gov/?term=Pearson+Paroxysmal+Eye-Head+Movements+Glut1+Deficiency|Pearson TS, et al. Paroxysmal Eye-Head Movements in Glut1 Deficiency Syndrome. Neurology. 2017]] | - [[https://pubmed.ncbi.nlm.nih.gov/?term=Pearson+Paroxysmal+Eye-Head+Movements+Glut1+Deficiency|Pearson TS, et al. Paroxysmal Eye-Head Movements in Glut1 Deficiency Syndrome. Neurology. 2017]] |
| - [[https://pubmed.ncbi.nlm.nih.gov/?term=Caraballo+benign+myoclonus+early+infancy+neurophysiologic|Caraballo RH, et al. The Spectrum of Benign Myoclonus of Early Infancy. Epilepsia. 2009]] | - [[https://pubmed.ncbi.nlm.nih.gov/?term=Caraballo+benign+myoclonus+early+infancy+neurophysiologic|Caraballo RH, et al. The Spectrum of Benign Myoclonus of Early Infancy. Epilepsia. 2009]] |
| | - * Elucidating the Visual Phenomena in Epilepsy: A Mini Review. Akyuz E, Arulsamy A, Hasanli S, Yilmaz EB, Shaikh MF. Epilepsy Research. 2023;190:107093. doi:10.1016/j.eplepsyres.2023.107093. |
| | * The role of fundoscopy in pediatric seizures. Kassem L, Segal I, Chayen G, Jacob R. European Journal of Pediatrics. 2022;181(1):399-402. doi:10.1007/s00431-021-04167-z. |
| | * Is There a Need for Ophthalmological Examinations After a First Seizure in Paediatric Patients?. Bernhard MK, Gläser A, Ulrich K, Merkenschlager A. European Journal of Pediatrics. 2010;169(1):31-3. doi:10.1007/s00431-009-0966-4. |
| | 10. Teaching Video NeuroImages: Epileptic Spasms and Characteristic Ophthalmologic Findings: A Diagnostic Conundrum. Reddy C, Basil M, Madaan P, et al. Neurology. 2020;95(18):e2602-e2604. doi:10.1212/WNL.0000000000010424. |
| | Ocular Motor Paroxysmal Events in Neonates and Infants: A Review of the Literature. Falsaperla R, Saporito MAN, Pisani F, et al. Pediatric Neurology. 2021;117:4-9. doi:10.1016/j.pediatrneurol.2020.06.001. |
| {{tag>seizures}} | {{tag>seizures}} |