Syndromic Diagnosis and
Interictal Correlation of Epilepsies
Dr.Ashraf.V.V
Consultant Neurologist
MIMS Hospital, Calicut
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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Concept of Epileptic Syndromes
• 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
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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 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
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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
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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
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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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Inter-ictal Hypsarrthymmia (50-60%): Chaotic background with high
amplitude delta,asynchronous multifocal spikes, polyspikes and
electrodecremental activity
Awake
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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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EM-AS
GEFS +
SCN1A mutations
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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Malignant migrating partial epilepsy of infancy
Migrating seizures of infantile
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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-pharyngolaryngeal
70% nocturnal
60% retained awareness
Lasts 1-2 min
Hyper salivation
Sec. Generalized- 30-50%
Speech arrest
Clonic upperlimb
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Panayiotopoulos Syndrome
Tonic eye
deviation
70% nocturnal
N, R, Vomiting
Peak- 4 to 5 years
Pallor +
other autonomic
Lasts longer; 44% > 30 min
Ictal syncope
EEG focus-commonly occipital,
variability ++
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Idiopathic childhood occipital
epilepsy of Gastaut
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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 syndrome
2. CSWS Syndrome
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Gradual cognitive/behavior
deterioration
Acquired language impairment
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Seizures
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Dramatic activation of epileptiform
abnormalities in slow wave sleep
LKS
CSWS
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
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CSWS 80%
Spikes Temporal
Seizures 75%
Symptomatic rare
Verbal auditory agnosia
Behavioural deficit common
50% reach near normal life
Epilepsy with CSWS
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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 seizures
Tonic 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
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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 N
MRI N / Metabolic N
EE with suppression – burst (OTOHARA’s )
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Epileptic spasms a few months later
HYPSARRYTHMIA MODIFIED BY SLEEP
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2.5 y; MR, Tonic seizures in sleep; Drop attacks with
injuries; Episodes of atypical absence status & regression
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SLOW SPIKE WAVE-LGS
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)
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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
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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
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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
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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
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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
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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
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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
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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 syndromesproblems
• 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
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