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Exaggerated Startle
Pediatric Neurology 54 (2016) 97e98
Contents lists available at ScienceDirect
Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu
Visual Diagnosis
Exaggerated Startle Britton D. Zuccarelli MD *, Arezou Heshmati MD Division of Neurology, Children’s Mercy, Kansas City, Missouri
A 2.5-year-old boy presented for evaluation of abnormal movements occurring since birth in response to touch. Examination was unremarkable except for brief (less than one second) episodes of neck flexion, upward eye deviation, extension of the shoulders with flexion of the elbows accompanied by brief high-frequency, lowamplitude tremulousness in response to tactile stimulation (Figure 1, Video 1). Cranial computed tomography was unremarkable. Captured episodes had a clear electrographic correlate with moderate to high-amplitude spike or polyspike and wave discharges in the setting of a normal interictal background consistent with reflex epilepsy (Figure 2, Video 2). He improved after starting levetiracetam. Reflex epilepsy was characterized by the International League Against Epilepsy definition as “seizures with specific modes of precipitation.” Environmental or internal afferent stimuli consistently precede the attacks.1 Alternatively known as epilepsy with reflex seizures, sensoryprecipitation epilepsy, and stimulus-sensitive epilepsy, reflex epilepsy represents 6% of all epilepsy cases.2 Afferent stimuli can be elementary, such as flashing light or a touch, or elaborate, such as reading or playing chess.3 Similarly, seizures can be either elementary (motor) or elaborate (affecting cognitive function). Seizures are most commonly generalized, typically myoclonic, but can be focal. The latency between stimulus and either clinical event or electrographic correlate is typically short, a few seconds, for simple stimuli, but can be longer, up to a couple of minutes, for more complex stimuli. The pathophysiology is thought to be the result of irritation of a seizure-prone area of the brain by the afferent stimulus, resulting in neuroexcitation and subsequent epileptiform activity.2 Examples
Author contributions: BDZ and AH saw the patient together in consultation. BDZ drafted the manuscript, and both authors contributed substantially to its revision. BDZ takes responsibility for the submission as a whole. No grant or financial support to acknowledge. No conflicts of interest to disclose.
* Communications should be addressed to: Dr. Zuccarelli; 2401 Gilham Road; Kansas City, MO 64108. E-mail address: [email protected] 0887-8994/$ e see front matter Ó 2016 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2015.08.007
FIGURE 1. The accompanying video shows two episodes of flexion of the neck, upward eye deviation, and extension of the bilateral shoulders with flexion of the elbows accompanied by brief high-frequency, low-amplitude tremulousness in response to tactile stimulation. The video related to this figure can be found at http://dx.doi.org/10.1016/j.pediatrneurol.2015.08.007. (The color version of this figure is available in the online edition.)
98
B.D. Zuccarelli, A. Heshmati / Pediatric Neurology 54 (2016) 97e98
FIGURE 2. The accompanying video electroencephalography recording of the same child captures a provoked seizure accompanied by moderate to high-amplitude spike or polyspike and wave discharges. The video related to this figure can be found at http://dx.doi.org/10.1016/j.pediatrneurol.2015.08.007. (The color version of this figure is available in the online edition.)
include primary reading epilepsy, tooth brushing epilepsy, and musicogenic epilepsy. In touch-evoked epilepsy, patients may be sensitive to multiple touch modalities and habituation can occur. These typically otherwise neurodevelopmentally normal children with normal neurological examination and neuroimaging may also have comorbid spontaneous seizures, typically myoclonic.4 The interictal electroencephalogram is usually normal. Treatment approaches include avoidance of the known trigger when feasible and antiepileptic therapy with valproic acid, clonazepam, clobazam, lamotrigine, levetiracetam, or phenobarbital.2 The prognosis is typically good.4
References 1. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia. 1989;30: 389-399. 2. Panayiotopoulos CP. The Epilepsies: Seizures, Syndromes and Management Chapter 13: Reflex seizures and reflex epilepsies. Oxfordshire, UK: Bladon Medical Publishing; 2005. 3. Calderón-Gonzalez R, Hopkins I, McLean WT. Tap seizures: a form of sensory precipitation epilepsy. JAMA. 1966;198:521-523. 4. Verrotti A, Matricardi S, Pavone P, Marino R, Curatolo P. Reflex myoclonic epilepsy in infancy: A critical review. Epileptic Disord. 2013;15:114-122.
Contents lists available at ScienceDirect
Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu
Visual Diagnosis
Exaggerated Startle Britton D. Zuccarelli MD *, Arezou Heshmati MD Division of Neurology, Children’s Mercy, Kansas City, Missouri
A 2.5-year-old boy presented for evaluation of abnormal movements occurring since birth in response to touch. Examination was unremarkable except for brief (less than one second) episodes of neck flexion, upward eye deviation, extension of the shoulders with flexion of the elbows accompanied by brief high-frequency, lowamplitude tremulousness in response to tactile stimulation (Figure 1, Video 1). Cranial computed tomography was unremarkable. Captured episodes had a clear electrographic correlate with moderate to high-amplitude spike or polyspike and wave discharges in the setting of a normal interictal background consistent with reflex epilepsy (Figure 2, Video 2). He improved after starting levetiracetam. Reflex epilepsy was characterized by the International League Against Epilepsy definition as “seizures with specific modes of precipitation.” Environmental or internal afferent stimuli consistently precede the attacks.1 Alternatively known as epilepsy with reflex seizures, sensoryprecipitation epilepsy, and stimulus-sensitive epilepsy, reflex epilepsy represents 6% of all epilepsy cases.2 Afferent stimuli can be elementary, such as flashing light or a touch, or elaborate, such as reading or playing chess.3 Similarly, seizures can be either elementary (motor) or elaborate (affecting cognitive function). Seizures are most commonly generalized, typically myoclonic, but can be focal. The latency between stimulus and either clinical event or electrographic correlate is typically short, a few seconds, for simple stimuli, but can be longer, up to a couple of minutes, for more complex stimuli. The pathophysiology is thought to be the result of irritation of a seizure-prone area of the brain by the afferent stimulus, resulting in neuroexcitation and subsequent epileptiform activity.2 Examples
Author contributions: BDZ and AH saw the patient together in consultation. BDZ drafted the manuscript, and both authors contributed substantially to its revision. BDZ takes responsibility for the submission as a whole. No grant or financial support to acknowledge. No conflicts of interest to disclose.
* Communications should be addressed to: Dr. Zuccarelli; 2401 Gilham Road; Kansas City, MO 64108. E-mail address: [email protected] 0887-8994/$ e see front matter Ó 2016 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2015.08.007
FIGURE 1. The accompanying video shows two episodes of flexion of the neck, upward eye deviation, and extension of the bilateral shoulders with flexion of the elbows accompanied by brief high-frequency, low-amplitude tremulousness in response to tactile stimulation. The video related to this figure can be found at http://dx.doi.org/10.1016/j.pediatrneurol.2015.08.007. (The color version of this figure is available in the online edition.)
98
B.D. Zuccarelli, A. Heshmati / Pediatric Neurology 54 (2016) 97e98
FIGURE 2. The accompanying video electroencephalography recording of the same child captures a provoked seizure accompanied by moderate to high-amplitude spike or polyspike and wave discharges. The video related to this figure can be found at http://dx.doi.org/10.1016/j.pediatrneurol.2015.08.007. (The color version of this figure is available in the online edition.)
include primary reading epilepsy, tooth brushing epilepsy, and musicogenic epilepsy. In touch-evoked epilepsy, patients may be sensitive to multiple touch modalities and habituation can occur. These typically otherwise neurodevelopmentally normal children with normal neurological examination and neuroimaging may also have comorbid spontaneous seizures, typically myoclonic.4 The interictal electroencephalogram is usually normal. Treatment approaches include avoidance of the known trigger when feasible and antiepileptic therapy with valproic acid, clonazepam, clobazam, lamotrigine, levetiracetam, or phenobarbital.2 The prognosis is typically good.4
References 1. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia. 1989;30: 389-399. 2. Panayiotopoulos CP. The Epilepsies: Seizures, Syndromes and Management Chapter 13: Reflex seizures and reflex epilepsies. Oxfordshire, UK: Bladon Medical Publishing; 2005. 3. Calderón-Gonzalez R, Hopkins I, McLean WT. Tap seizures: a form of sensory precipitation epilepsy. JAMA. 1966;198:521-523. 4. Verrotti A, Matricardi S, Pavone P, Marino R, Curatolo P. Reflex myoclonic epilepsy in infancy: A critical review. Epileptic Disord. 2013;15:114-122.