syndromic diagnosis and interictal correlation of epilepsies dr.ashraf.v.v consultant neurologist...
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Syndromic Diagnosis and Interictal Correlation of Epilepsies
Dr.Ashraf.V.V
Consultant Neurologist
MIMS Hospital, Calicut
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Electro-clinical Syndrome
• Group of clinical entities that are reliably identified by a cluster of electro-clinical and developmental characteristics
• Largely genetic in origin
• Tend to have a strong relationship to developmental aspects of brain
ILAE Commission 2009
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• Factors taken into consideration include– Seizure type(s)– Age of Onset– Precipitating factors – Severity, Chronicity– Diurnal/circadian cycling– Etiology: genetics, structural pathology– Associated neurological problems – Interictal EEG
Concept of Epileptic Syndromes
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Advantages of a syndromic diagnosis
Provide information about– Age of onset– Etiology– Seizure type– Precipitating factors– Chronicity– Prognosis– Choice of treatment
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Epileptic Encephalopathy
• Electro-clinical syndrome associated with a very high probability of encephalopathic features that present or worsen after the onset of epilepsy
• Pharmaco-resistant
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Neonatal Epileptic syndromes
• Early Myoclonic encephalopathy
• Ohtahara syndrome
• Benign familial neonatal seizures
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Early Myoclonic EncephalopathyEarly Myoclonic Encephalopathy (Aicardi et al 1978)
• Onset: first weeks of life• Erratic, focal, rarely generalized myoclonic and
clonic seizures• High incidence of consanguinity• Sometimes IEMs: (NKHG)• EEG: Burst- Suppression Pattern, persists for
months; awake & sleep• Intractable to therapy - seizure pattern may
change over time• Severe disability; early death
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3 months later
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Early Infantile Epileptic Encephalopathy (Ohtahara 1976)
• Onset in the first weeks of life• Characteristic repetitive ‘tonic spasms’ - focal or
generalized• Commonly associated with structural brain
abnormalities • EEG burst suppression pattern, > in sleep,
evolves to hypsarrythmia• Intractable to AEDs• Neurological outcome is very poor, early death• Evolves to WS, LGS
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Fp1-F3
F3 –C3
C3 – P3
P3 – O1
Fp2 F4
F4 – C4
C4 – P4
P4 – O2
Fp1 –F7
F7 – T3
T3 – T5
T5 – O1
Fp2 F8
F8 – T4
T4 – T6
T6 – O2
EKG
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Benign familial neonatal Seizures
• Second or third day of life
• Repetitive isolated seizures
• Autosomal dominant
• 10-15% develop epilepsy later
• No psychomotor deficit
• EEG: Non specific, focal abnormalities
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Electro-clinical syndromes of Infancy
• West syndrome• Febrile seizures plus• Dravet syndrome• Migrating partial seizures of infancy• Myoclonic epilepsy in infancy• Myoclonic encephalopathy in nonprogressive
disorders• Benign familial infantile seizures
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WEST SYNDROME : INFANTILE (EPILEPTIC) SPASMS
• Myoclonic < Spasms < Tonic
• Flexor , Extensor, Flexor-extensor
• Subtle spasm
• Asymmetrical spasm in symptomatic
• Onset 3-12 m (4 months); till 2 yrs
• Occipital lesions---- early onset
Frontal lesions -----later onset
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West Syndrome
• Symptomatic , Cryptogenic, Idiopathic
• Symptomatic- cortical malformations, HIE, tuberous sclerosis,infections, genetic and chromosomal abnormalities etc
• Focal lesions ++
• Autistic regression / visual agnosia
• Evolution LGS / partial seizures
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18Awake
Inter-ictal Hypsarrthymmia (50-60%): Chaotic background with high amplitude delta,asynchronous multifocal spikes, polyspikes and electrodecremental activity
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Hypsarrhythmia with focal slowing (Left temporo-occipital FCD )
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Spasms & hypsarrhythmia resolve by 2y Evolve to focal seizures (R occipital lesion)
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Ictal- Generalised sharpwaves/slow waves with attenuation
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WHEN FEBRILE SEIZURES ARE NOT FEBRILE SEIZURES
• GEFS + (Gen. Epilepsy febrile seizures plus)– Common under-recognised disorder– Autosomal dominant with high penetrance– Typical FS, FS + lasting longer, Afebrile GTCs most
common– Occasionally absence, myoclonic, atonic– Focal seizures of frontal or temporal lobe in origin– Dravet’s syndrome overlap– Remits in adolescence 80% – Sodium channelopathy
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Dravet’s syndrome (SMEI)
• 1st year febrile / afebrile unilateral / GTCs; status epilepticus
• Later myoclonus, atypical absence, complex focal
• Resistant to AEDs
• Cognitive regression, ataxia 2nd year
• FH + 25-30%
• Severe idiopathic generalised epilepsy of infancy (SIGEI) with GTCs: No myoclonus
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• EEGs normal ; later generalized epileptic photosensitivity
• Consider this syndrome when febrile / illness provoked seizures start in infancy and EEG is persistently NORMAL
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GEFS +SCN1A mutations
EM-AS
DRAVETs SIGEI
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Malignant migrating partial epilepsy of Infancy
• Epileptic encephalopathy
• Mean age 3 months
• Continuous multifocal seizures arising independently from multiple regions
• Psychomotor deterioration
• Seizure control is exceptional
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Migrating seizures of infantileMalignant migrating partial epilepsy of infancy
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Migrating seizures of infantile
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Childhood epilepsy syndromes
• Benign epilepsy with centrotemporal spikes• Early onset Benign childhood occipital epilepsy
(Panayiotopoulos Syndrome)• Late onset childhood occipital epilepsy (Gastaut type)• Epileptic encephalopathy with CSWS• Landau-Kleffner syndrome• Lennox-Gastaut syndrome• Autosomal dominant nocturnal frontal lobe epilepsy• Childhood Absence epilepsy• Epilepsy with myoclonic absence
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BECTS[Benign Rolandic Epilepsy]
• Most common partial epilepsy in childhood
• Onset 2-14 years; ¾ 7-10 yrs
• Seizure frequency-
– 10-20% have a single seizure
– 20% have frequent seizures
– < 2% have seizures into adulthood
• “No other” neurological issues
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Ictal Semiology
Focal facial sensorimotor
Oro-pharyngo-laryngeal
Hyper salivation
Speech arrest
70% nocturnal
60% retained awareness
Lasts 1-2 min
Sec. Generalized- 30-50%
Clonic upperlimb
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Panayiotopoulos Syndrome
Tonic eye deviation
N, R, Vomiting
Pallor + other autonomic
Ictal syncope
70% nocturnal
Peak- 4 to 5 years
Lasts longer; 44% > 30 min
EEG focus-commonly occipital, variability ++
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Idiopathic childhood occipital epilepsy of Gastaut
• Mean age : 8 years
• Elementary visual hallucinations
• Ictal blindness
• Deviation of eyes
• Severe headache
• EEG shows occipital paroxysms, often demonstrating fixation-off sensitivity
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Epileptic Encephalopathy of Late Childhood
A spectrum of diseases
1. Landau- Kleffner syndrome2. CSWS Syndrome
• Gradual cognitive/behavior deterioration
• Acquired language impairment
• Seizures
• Dramatic activation of epileptiform abnormalities in slow wave sleep
LKS CSWS
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Landau Kleffner Syndrome
• Our son was normal in every way until the age of 2 years. At first he seemed to be losing his hearing but not for environmental sounds. We thought that he was going deaf, but the hearing test was normal… When he was 3 years old he didn’t say anything for over a month. He improved for a few months and then he had a minor seizure
» From the internet description by a mother
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LKS Vs Epilepsy with CSWS
» LKS
• CSWS 80%• Spikes Temporal• Seizures 75%• Symptomatic rare• Verbal auditory agnosia• Behavioural deficit common• 50% reach near normal life
Epilepsy with CSWS
• CSWS 100%• Frontal spikes• Seizures -100%• One third symptomatic• Expressive aphasia• Nearly all• One-quarter reach
normal
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Fp1-F3
F3 –C3
C3 – P3
P3 – O1
Fp2 F4
F4 – C4
C4 – P4
P4 – O2
Fp1 –F7
F7 – T3
T3 – T5
T5 – O1
Fp2 F8
F8 – T4
T4 – T6
T6 – O2
EKG
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Lennox Gastaut Syndrome
• Polymorphic seizuresTonic Seizures - Commonest Atypical absences – 2/3rd of patients Atonic seizures (Drop attacks)Myoclonic jerks
• Cognitive and behavioural abnormalities
• EEG Slow spike and wave, Paroxysms of fast activity
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Lennox-Gastaut Syndrome
• Peak age 3-5 years
• Symptomatic form most common
• One third idiopathic
• No genetic predisposition
• Half of the West syndrome and others progress to LGS
• Poor prognosis
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EVOLUTION OF SYNDROMES
OTAHARA’S (neonate)
WEST (infant)
LENNOX GASTAUT (toddler)
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D 15 infant refractory tonic / partial seizures; BH NMRI N / Metabolic NEE with suppression – burst (OTOHARA’s )
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Epileptic spasms a few months laterHYPSARRYTHMIA MODIFIED BY SLEEP
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2.5 y; MR, Tonic seizures in sleep; Drop attacks with injuries; Episodes of atypical absence status & regressionSLOW SPIKE WAVE-LGS
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Epilepsy with Myoclonic-Astatic Seizures( Doose Syndrome)
• Normal development prior to the onset
• Onset peaks at 2-4 years
• Two-thirds of children have febrile and afebrile GTCS to begin with
• Myoclonic astatic seizures (post myoclonic atonia)
• Normal background EEG with 2-3 Hz GSWD
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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
• Hypermotor seizures
• Consciousness is usually preserved
• Postictal state is entirely normal
• Common in hypnagogic state or shortly before awakening
• Interictal EEG is usually normal
• Video-polysomnographic EEG – frontal ictal rhythms in 30% of cases
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Childhood Absence Epilepsy
• Brief staring spells (“petit mal”) with impairment of awareness– 3-20 seconds – Sudden onset and sudden resolution– Often provoked by hyperventilation– Onset typically between 4 and 14 years of age– Often resolve by 18 years of age
Normal development and intelligence EEG: Generalized 3 Hz spike-wave
discharges
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OIRDA
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3 Hz GSWD, Higher voltage in the anterior region, No marked variation in intradischarge frequency, no fragmentation in the ictal discharge
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Epilepsy with Myoclonic Absences
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Syndromes in Adolescence-Adults
• Juvenile Myoclonic epilepsy
• Juvenile absence epilepsy
• Epilepsy with GTCS alone
• Autosomal dominant partial epilepsy with auditory features (ADPEAF)
• Progressive myoclonic epilepsies
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Juvenile Myoclonic Epilepsy• Most common among IGEs: 4-6%• Genetically determined• 40-50 %: family history of epilepsy• Myoclonic seizures (MSs): 100%• Generalized tonic-clonic seizures: 90%• Absence seizures: 35%• EEG-3-6 Hz spike/polyspike-slow waves with
intradischarge fragmentation and unstable frequency
• One third of patients have photoparoxysmal responses
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Juvenile Absence Epilepsy
• Usual age of onset 10-14 years
• Typical Absences- impairement of consciousness
• GTCS – In nearly 80% of patients
• Myoclonic jerks -random
• Absences>GTCS>Myoclonic jerks
• Ictal EEG shows 3-4 Hz GSWD
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Progressive Myoclonic Epilepsies
• Symptomatic generalized epilepsies• • Myoclonic seizures• • Progressive neurological abnormalities
• MERRF: early childhood or as late as 65 yr of age• Unverricht-Lundborg disease: 6-15 yr (mean 11 yr)• Lafora’s disease: 10-18 yr• Neuronal ceroid lipofuscinosis• Sialidosis
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Reflex Epilepsies
• Reading Epilepsy
• Idiopathic photosensitive occipital epilepsy
• Startle Epilepsy
• Eyelid Myoclonia with absences (Jeavons Syndrome)
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Reading Epilepsy
• Stimulus: reading, talking (fast or argumentative), writing.
• Manifests as myoclonic jerks of the jaw muscles
• Other types of seizures is exceptional
• Symptomatic form can have focal seizures manifesting with alexia and dysphasia
• Interictal EEG is usually normal
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Idiopathic photosensitive occipital epilepsy
• Visual hallucinations
• Blurring of vision and blindness
• Seizures induced by photic stimuli
• Commonly induced by video games
• Photic stimulation elicits PPR spikes
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Jeavons Syndrome
• Age group : 6-8years
• F>M
• Eyelid myoclonia with and without absences
• Eye closure induced seizures or EEG paroxysms
• Photosensitivity
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Diagnosis of epileptic syndromes- problems
• Exact diagnosis may not be possible on first contact
• Needs periodic follow up
• Evolution of syndrome
eg: west syndrome LGS
• Overlapping features
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THANK YOU