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Misdiagnois NOT Uncommon

Differential Diagnosis of

SEIZURES Epilepsy Epilepsy Reasons for referral confirmed NOT confirmed

Doubt about diagnosis 7 (18%) 32 (82%) Lunliya Thampratankul, MD No doubt about Division of Neurology, Department of Pediatrics 129 (70%) 55 (30%) diagnosis Ramathibodi Hospital, Mahidol University

Misdiagnois NOT Misdiagnois NOT Uncommon Uncommon Diagnosis No. Staring episodes Mental retard 22 Autistic 4 Learning disorder 3 Self stimulation 2 Abnormal EEG 7 Normal child 8 Psychogenic non epileptic 9 Syncope 4 Dystonia 4 Parasomnias 4 Hyperventilation 3 Migraine 3 Breath holding spells 2 Munchhausen by proxy 2 Other 4 Not defined 6

Misdiagnois NOT Evaluation of Seizure Uncommon Hardly anyone with epilepsy will come to any harm • อาการทีเกิดขึนเป็นอาการชักหรือไม่ from a delay in diagnosis whereas a false positive diagnosis is gravely damaging. ประวัตจิ ากผู้เหน็ เหตุการณ์โดยละเอียด • Diagnosis of epilepsy lead to significant การตรวจร่างกาย psychological consequences of patients and families. Preictal Postictal • The underlying disease may not receive properly treatment. • Some cardiac cause carry a considerable mortality Ictal risk ปัจจัยกระตุ้น เวลาและสถานที กิจกรรมทีทาํ ลําดับเหตุการณ์

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Differential Diagnosis of Seizure • Syncope PNEA • Jitteriness Paroxysmal Non-Epileptic Attack • Arrhythmia (Psychogenic/pseudoseizure) • Physiologic myoclonus • GERD • Hyperventilation • Breath holding spell • Sleep disorders • Benign paroxysmal • Migraine vertigo • Metabolic disorders • Cyclic vomiting • Hypoglycemia • Movement disorders • TIA • Hyperekplexia • Psychogenic seizure

Jerky movement Neonatal sleep myoclonus อาการกระตุก Neurological • Myoclonic jerks เกิดขึนเฉพาะ ช่วงหลับ • Seizure: • Bilateral, synchronous, repetitive • Clonic seizure • Distal part of upper extremities • Myclonic seizure • Epileptic spasms • Unilateral, isolated, transition from one limb to • Abnormal movement: the others • Tics • พบได้ในเด็กปกติ อาการดีขึนเมื อโตขึน • Hypnic jerk, sleep myoclonus • Opsoclonus-myoclonus syndrome • ไม่สมั พนั ธ์กบั ชกั อาจสมั พนั ธ์กบั ไมเกรนตอนโต Other: • ข้อสงั เกต: ถ้าพบในเด็กทีมีปัญหาซมึ หรือ เกิดในขณะตืน ระวงั ภาวะ • Jitteriness ชกั

Jitteriness vs Jitteriness Neonatal Seizure • อาการสัน (rhythmic tremor)ของแขนขา Seizure Jitteriness • Triggered by stimulation; loud noise External stimulus can No Yes • Stopped by passive movement (flex) of initiate limbs, initiate baby’s sucking Symmetrical fine Movements Irregular, jerky • No autonomic change tremor • Hyperexciatbility Associated HR Yes No • พบใน ภาวะปกติ hypocalcemia, hypoglycemia, Associated apnea ± No maternal drug withdrawal Movements can be No Yes easily stopped Self limited Bending/holding

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Bobble-head doll Opsoclonus-myoclonus- syndrome ataxia syndrome • Repetitive antero-posterior head movements, 2-3 • Opsoclonus: multidirectional conjugate eye Hz frequency movement with horizontal, vertical and torsional • Disappear or attenuate on volitional activities directions • Often associated with trunkal tremor • Difficulty walking, behavioral change • Associated with lesions in the 3rd ventricular • Autoimmune, inflammatory reaction, region: suprasellar cyst, aqueductal stenosis, etc paraneoplastic, infectious • 50% of children associated with occult neuroblastoma • Small cell lung CA, breast adenoCA • Rx immunotherapy

Subacute sclerosing Hypnic Jerk panencephalitis (SSPE) • Hypnagogic jerk, Sleep start • Dawson disease, measles encephalitis • @ beginning to fall asleep • 1: 10,000 measle cases • “jump with a falling sensation” might lead to • 6 years after measle infection arousal • Behavior change, irritability  dementia-like  myoclonus  intellectual decline  loss of motor • Post-sleep deprived, irregular sleep control of walking, speaking, swallowing  coma schedule, caffeine, stress • Dx: CSF and blood specific IgG, CSF PCR • DDx: Periodic limb movement disorders of sleep (might related with RLS, insomnia)

SSPE-EEG Epileptic spasms

• West syndrome Triad: (1) Epileptic spasms

(2) Developmental delay (3) Hypsarrhythmia

• Onset: early infancy, peak 4 - 6 mo.

• Etiology: HIE, structural brain defect, TSC, Down syndrome, inborn error of metabolism

• Need urgent evaluation

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Tonic posturing Hyperekplexia อาการเกร็ง Startle syndrome Neurological: Non-neurological: • Pronounced startle responses to tactile or acoustic • Seizure . Gastroesophageal stimuli and hypertonia •  ICP: decorticate, reflux • Generalized stiffness (limb extension), forced eye decerebrate posturing . Breath holding spells closure  falling • Dystonia . Hyperventilation • Episodic neonatal apnea  sudden infant death syndrome (SIDS) • Hyperekplexia syndrome . Gratification disorder • “NOSE TAPPING” (glabellar tapping) (infantile • Glycine, AD AR X-linked: GLRA1 (glycine receptor masturbation) alpha 1 subunit), GLRB, SLC6A5, GPHN, ARHGEF9 . Shuddering attacks • Rx clonazepam

Breath holding spells Gratification disorder Infantile masturbation • Prolonged expiratory apnea • Age onset: 3 mo-3 yr (upto 5 yr), mean 10.5 mo • Provocation (pain, fear, upset)  crying  • Stereotype episodes of variable duration noiseless pause with an open mouth and • Vocalization with quiet grunting change in color • Facial flushing with diaphoresis  loss of consciousness and postural tone • Pressure on the perineum with the characteristic  post anoxic seizure posturing of lower extremities (e.g. rocking with crossed legs) • Less than 1 min • No LOC, cessation with distraction • Age 6-18 mo • Rx reassure, Rx iron deficiency

Shuddering Paroxysmal dyskinesia

• Shivering episode mainly involve head, neck, • Paroxysmal kinesiogenic dyskinesia shoulder and occasionally trunk (PKD) “ice cube was dropped down their back” • Paroxysmal non-kinesiogenic dyskinesia • No impairment of consciousness; staring but (PNKD) alert • Intermittent + hyperkinetic movement • Abrupt onset, 5-15 seconds (chorea/dystonia) • Infancy to early childhood • Abnormal movement, good conscious • Precipitated by fear, anger • PKD: Rx low dose carbamazepine

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Dystonia Catatonia

• Abnormal movement • Psychogenic motor immobility • Awkward, unusual, painful posture • Unresponsiveness to external stimuli in a • Focal/segmental/hemi/generalized person who is apparently awake • Etiology: • Associated with psychological condition, • Drugs (extrapyramidal side effect) autoimmune disorder, alcohol & • Autoimmune benzodiazepine withdrawal, neuroleptic • Wilson disease malignant syndrome • Structural brain • S&S; mutism, negativism, echopraxia, • Genetic,etc echolalia, waxy flexibility, withdrawal • Rx benzodiazepine, underlying disease

Loss of tone Narcolepsy with ตัวอ่อน ล้มบ่อย cataplexy Neurological • Excessive daytime sleepiness • Seizure (drop attacks): atonic seizure, • Cataplexy: sudden loss of tone myoclonic seizure precipitated by emotion • Cataplexy • Sleep paralysis Non-neurological • Sleep onset/offset hallucination • Syncope: vasovagal, cardiogenic • Inv: Overnight polysomnography + • Anaphylactic shock multiple sleep latency test, MRI brain

Loss of consciousness Syncope vs Seizure ภาวะหมดสติ

Neurological Syncope Seizure Decreased cerebral Abnormal electrical • Generalized seizure Mechanism • Stroke blood flow activity Position, state Upright, awake Any, awake-sleep Non-neurological Dizziness, blurry Aura: motor/sensory/ • Syncope Preictal vision, sweating, visual/ déjà vu . Vasovagal palpitation . Cardiogenic-arrhythmia, aortic stenosis Onset of LOC Gradual Sudden • Hypoglycemia Duration 10-20 sec Minutes Eyes closed, Eyes opened, • Intoxication Eyes (up rolling) eye deviation • Anaphylaxis

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Nocturnal Syncope vs Seizure paroxysmal events

Syncope Seizure • At sleep onset: Facial color Pale Cyanosis • Rhythmic movement disorder of sleep Twitching Rare, < 15 sec Frequent • During early sleep Enuresis Rare Yes • NonREM parasomnias Tongue biting No Yes • Sleep terrors, confusional arousal, sleep walking Amnesia Yes Yes • During late sleep Postictal Brief somnolence Confusion, headache, • REM parasomnias: Nightmare symptoms Rapid recovery focal neuro deficit • Precipitating: fear, Any time in sleep: sleep myoclonus, seizure Note stress, anxiety, pain, All events stereotype sleep deprivation

Sleep related Rhythmic Parasomnia Movement Disorder • Occur while drowsy or falling asleep • นอนละเมอ • Body rocking, head banging (Jactatio captitis • Sleep talking, sleep terrors, sleep walking, nocturna), head rolling confusional arousal • Body rolling, leg rolling, leg banging • เป็นภาวะปกติและพบบ่อยในเด็ก ส่วนในผู้ใหญ่พบไม่บ่อย ควรต้องหา • Normal infant, children with intellectual สาเหตุ disability • มกั เกิดในช่วง 2-3 ชัว โมงแรกหลงั จากเริมหลบั • Family concerns • เกิดได้ 1-3 ครังต่อคืน • ปัจจยั กระต้นุ ได้แก่ อดนอน ยานอนหลบั เจ็บป่วย ความเครียด

Management of Parasomnia and Nocturnal Parasomnia Frontal Lobe Epilepsy

NREM parasomnia NFLE • REASSURE Age at onset Usually < 10 yrs Variables • Sleep hygiene, adequate amount of sleep (+) Family Hx 60-90% Up to 40% • Manage triggering factors • Noise and light stimuli contribute to partial arousal, Attacks per night 1 or 2 3 or more extreme exercise, stress Episode per month < 1 -4 20 -40 • antihistamine, alcohol, antidepressant, sedative Clinical course Tends to disappear by Often stable with • Environmental safety adolescence increasing ages • Search for and treat, if present, other sleep disorder, Episode duration Secondsto 30 min Seconds to 3 min (often such as OSA < 2 min) Semiology of Variable complexity, Highly stereotyped • Clonazepam for recurrent and problematic parasomnia movement not stereotyped

Derry CP, et al. Epilepsia 2006

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Parasomnia and Nocturnal Nocturnal Epilepsy vs Frontal Lobe Epilepsy Parasomnia

NREM parasomnia NFLE Sleep deprivation, • Careful history is necessary to distinguish Trigger factors febrile illness, alcohol, Often none identified parasomnias from epileptic seizures: stress • Time of sleep-wake occurrence Associated condition OSA Often none identified • Precipitating factors: emotions, annoyances, tiredness Often normal or • Duration and frequency of episodes obscured by • Other accompanying features: pallor, diaphoresis, Ictal EEG Slow waves movement, less than papillary dilatation, posturing 10% frank epileptiform • Factors associated with cessation or following the event discharge • Documentation of the episode with home video First third of night, but Times of episode Any time, but may recording during sleep usually after 90 min of occur in first 30 min sleep • Video-EEG/PSG recording in selected cases

Sleep stage when event N3, occasionally N2 Usually N2 occur Derry CP, et al. Epilepsia 2006

PNES vs Seizure Migraine

Seizure PNES • อาการ aura: focal cerebral dysfunction บางครังอาจแยก Asynchronous, sudden Stereotype, synchronous, ยากจากอาการชกั Movement onset/cessation, side to side rhythmic, gradual stop head shaking, pelvic thrusting • Blind spots (scotoma) or vision loss in part of one or both eyes Eyes Open Resistance to eye opening • Seeing zigzag pattern or flashing lights Consciusness Impaired Appeared impaired • Hallucinations vocalization Screaming, mumbling, groans Swearing, yelling, stuttering • Weakness, numbeness, prickling, tingling Tongue bite Side Tip • Injury Burns, fall, friction Rare มกั ตามด้วยอาการปวดศีรษะเป็นชวั โมงหรือเป็นวนั อาจมีอาการคลนไส้ื Inducible No Yes อาเจียนร่วมด้วย Confusion, combativeness, • Postevent Appeared disoriented อาการดีขึน หลงั จากได้นอนพกั ร่วมกบั รับประทานยา agitation, headache

Acknowledgement

• ศ.นพ. พงษ์ศกั ด ิ วิสทุ ธิพนั ธ์ • ศ.พญ. สุรางค์ เจียมจรรยา Thank you for your attention • ศ.นพ. อนนั ต์นิตย์ วิสทุ ธิพนั ธ์ • ผศ.นพ. ชยั ยศ คงคติธรรม • พญ.กษมา พทุ ธิสวสั ดิ

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