Pediatric epilepsy syndromes
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Transcript of Pediatric epilepsy syndromes
Dr. Parag MoonSenior resident,
Dept. of NeurologyGMC Kota.
Definition:
An epileptic disorder characterized by a cluster of signs and symptoms customarily occurring together; these include type of seizure, etiology, anatomy, precipitating factors, age of onset, severity, chronicity, diurnal and circadian cycling and prognosis.
Must involve more than just a seizure type.
Neonatal period Benign familial neonatal epilepsy (BFNE) Early myoclonic encephalopathy (EME) Ohtahara syndrome Infancy Epilepsy of infancy with migrating focal seizures West syndrome Myoclonic epilepsy in infancy (MEI) Benign infantile epilepsy Benign familial infantile epilepsy Dravet syndrome Myoclonic encephalopathy in non-progressive
disorders
Childhood Febrile seizures plus (FS+) (can start in infancy) Panayiotopoulos syndrome Epilepsy with myoclonic atonic (previously astatic) seizures Benign epilepsy with centrotemporal spikes (BECTS) Autosomal dominant nocturnal frontal lobe epilepsy
(ADNFLE) Late-onset childhood occipital epilepsy (Gastaut type) Epilepsy with myoclonic absences Lennox–Gastaut syndrome Epileptic encephalopathy with continuous spike-and-wave
during sleep (CSWS)* Landau–Kleffner syndrome (LKS) Childhood absence epilepsy (CAE)
Adolescence–adult Juvenile absence epilepsy (JAE) Juvenile myoclonic epilepsy (JME) Epilepsy with generalized tonic-clonic seizures
alone Progressive myoclonus epilepsies (PME) Autosomal dominant epilepsy with auditory
features (ADEAF) Other familial temporal lobe epilepsies Less specific age relationship Familial focal epilepsy with variable foci
(childhood to adult) Reflex epilepsies
Onset days 2–15, commonly in first week.
Family history, autosomal dominant inheritance.
Mutations of potassium channel genes KCNQ2 and KCNQ3, and a nicotinic cholinergic receptor channel gene.
Cluster of focal clonic seizures, often secondarily generalized or apneic.
No specific EEG pattern, interictal background may be normal.
Spontaneous recovery with favorable outcome.
Can occur as late as 3.5 months and occur later in premature infants.
EEG showing focal or multifocal sharp waves or “theta pointu alternant” pattern
Onset of erratic myoclonus before 3 months (usually first 30 days).
Massive myoclonus, focal seizures and late-onset tonic spasms also occur.
Developmental arrest.
Suppression-burst EEG pattern.
Refractory to antiepileptic therapies.
Poor outcome; 50% mortality in first year.
Associated with inborn errors of metabolism, especially glycine encephalopathy,
EEG showing diffuse suppression burst pattern
Early infantile epileptic encephalopathy with suppression bursts
Onset of tonic spasms before 3 months (usually first 10 days).
Developmental arrest. Suppression-burst EEG pattern. Refractory to antiepileptic therapies. Frequent progression West syndrome. Poor outcome; severe neurological impairment,
death. Distinguished from EME by absence of erratic
myoclonus, presence of tonic spasms at onset Frequently accompanied by structural lesions.
Malignant migrating partial epilepsy in infancy Onset 6 months. Clusters of severe, polymorphous focal seizures,
frequently evolving into generalized. Progressive decline in psychomotor development Within weeks to months, patients enter a “stormy
phase” with frequent polymorphous focal seizures that become virtually continuous.
EEG shows multifocal discharges, typically rhythmic theta activity, that progressively expand to adjacent cortical areas
Ictal and interictal EEGs become indistinguishable Prognosis is poor
Onset before 1 year, peak 4–7 months.
Clusters of spasms.
Spasms are myoclonic-tonic contractions and can be either flexor, extensor, head or combination.
Developmental arrest and psychomotor deterioration.
Hypsarrhythmia interictal EEG pattern.
Often refractory to antiepileptic therapies.
EEG showing hypsarrythmia
Onset 3–20 months.
Clusters of brief partial seizures.
Normal development before onset.
Responsive to antiepileptic therapies.
Favorable outcome.
Familial form based on a family history of infantile convulsions without later development of other forms of epilepsy
Inherited as autosomal dominant.
Peak age of seizure onset in familial form is 4–7 months
Ictal EEG showing seizure onset starting at O1, spreading to Cz and C3
Onset 3 months to 6 years.
Generalized tonic-clonic seizures (GCTS) occurring with fever.
Continuation of febrile GCTS after 6 years of age or occurrence of afebrile GCTS.
Family history of childhood febrile seizures.
Normal interictal EEG.
Favorable outcome.
May experience febrile myoclonus
Associated with mutations of the SCN1A sodium channel gene.
Previously called early-benign childhood seizures with occipital spikes
Childhood onset (peak 5 years).
Focal autonomic seizures or autonomic status epilepticus, frequently with emesis.
Interictal EEG with shifting or multifocal high-amplitude spikes, often with occipital predominance.
Favorable outcome with remission in 1–2 years and normal development.
EEG spikes occur most commonly in the posterior areas of the brain including the occipital lobe
30% of patients show only extraoccipital discharges or normal EEGs
EEG showing clone-like repetitive occipital spike-wave discharges
Formerly known as myoclonic astatic epilepsy of Doose Onset between 18 months and 5 years (peak 3 years). Myoclonic atonic seizures are primary seizure type, but
heterogeneous presentation. Initial massive myoclonic jerk followed immediately by
severe loss of muscle tone, often causing a fall and referred to as a drop attack
Most patients experience heterogeneous seizure presentations
Interictal EEG with 4–7 Hz spike and slow-wave or polyspike and slow-wave complexes.
Variable course and outcome. One half experience encephalopathic effects and suffer
from persistent GTCS, myoclonic-atonic status and dementia.
Interictal EEG showing 4-7 Hz spike and slow wave pattern
Defined as syndrome characterised by multiple type of seizures including a nucleus of brief tonic or atonic seizures, absence seizures, myoclonic jerks(less common).
Interictal EEG pattern of diffuse slow(less than 2.5 hz) spike and wave complexes.
Mental retardation common(90%).
Non convulsive status epilepticus common.
More common in males
Peak age of onset between3-5yrs
More frequent during sleep
Two thirds to three-fourths-secondary or symptomatic
Cortical malformations- B/L perisylvian and central dysplasia, diffuse subcortical laminar heterotopias, focal cortical dysplasia.
Tonic seizures-most characteristic
Occur during non REM sleep for avg.10 secs
Axial subtype-B/L symmetrical contraction of axial muscles
Axorhizomelic-abduction & elevation of arms
Global tonic attacks-affect most muscles.
May be associated with autonomic phenomenon
Discharge of high amplitude fast rhythms lasting for about 10 secs followed by Polyspikes and spike and wave complex
EEG showing spike-wave of 2.5 hz or less.
Atypical absence seizures- 13 to 100%
Burst of spike-wave of 2.5 hz or less seen.
Not precipitated by hyperventilation or photic.
Myoclonic- less common
Atonic seizures-26-56%
Non convulsive status epilepticus-50-75%
Consist of subcontinuous atypical absence periodically interrupted by brief tonic seizures.
Predictors of Prognosis
1. Age of onset
2. Frequency of tonic seizures
3. Repeated episodes of non convulsive status
4. Constant slow EEG background.
Treatment
Refractory to treatment
1. AED-Benzodiazapines, Sodium valproate, Felbamate, Lamotrigine, Topiramate
2. Ketogenic diet
3. Vagal nerve stimulation
4. Surgical resection
Onset 5mth to 5yrs.
May be preceded with febrile convulsion.
Myoclonus may be axial or generalised.
Myoclonus increased in drowsiness.
Triggered by sudden tapping or acoustic stimuli.
Interictal EEG may be normal.
Sleep record-burst of generalised fast SW or polySW.
Favorable prognosis
Often controlled with valproate monotherapy.
Benign rolandic epilepsy or sylvian epilepsy
Onset between 2 and 13 years (peak 9–10 years).
Normal development before onset and during course of epilepsy.
Autosomal dominant inheritance.
Focal seizures with motor signs often hemifacialwithout impairment of consciousness.
Interictal EEG with high-voltage centrotemporalspikes on a normal background.
Favorable outcome with recovery in adolescence.
EEG during drowsiness and sleep showing frequent bilateral synchronous/independent biphasic spikes followed by slow waves in the centro-temporal regions.
Childhood/adolescent onset (mean 11 years).
Autosomal dominant inheritance due to nicotinic acetylcholine receptor
(AChR) channelopathy.
Focal sensory-motor seizures occurring in NREM sleep.
Variable manifestations including prominent motor features such as jerking, dystonia, and automatisms, as well as vocalizations, and non-specific auras
Ictal EEG with frontally dominant slow discharges.
Prognosis is typically favorable.
Formerly grouped with Panayiotopoulos syndrome as childhood occipital epilepsy, late onset Gastaut type
Childhood onset (mean 8–9 years). Occipital seizures, primarily visual manifestations
including hallucinations and temporary blindness.
Interictal EEG with occipital spike-waves upon eye closure and with attenuation upon eye opening.
Responsive to antiepileptic therapies. Favorable prognosis with remission in
adolescence.
EEG showing B/L occipital spike and wave complexes with right dominance.
Recognized by Tassinari and colleagues
Childhood onset (mean 7 years).
Myoclonic absence seizures: loss of consciousness with severe, rhythmic myoclonic jerks.
Myoclonias are bilateral and rhythmic, maximally involving proximal limb muscles, and may be associated with a tonic contraction associated with raising the arms
Ictal EEG showing bilateral, synchronous spike and slow-wave complexes at 3 Hz associated with myoclonus.
Interictal EEG is variable and ranges from normal to background slowing and generalized spike and slow-wave activity
Variable course and outcome.
Many resistant to drug therapy
Less favorable outcomes associated with poor seizure control.
Childhood onset (peak 4–7 years).
Various generalized and focal seizures.
Cognitive deterioration and behavioraldisturbances.
EEG with continuous spike and slow wave seen in at least 85% of slow-wave sleep.
Characterized by a hallmark EEG presentation, called continuous spike and-wave during sleep (CSWS) or electrical status epilepticus of slow-wave sleep (ESES) accompanied by seizure activity and neuropsychological deficits.
EEG showing continuous spike and-wave during sleep (CSWS) or electrical status epilepticus of slow-wave sleep.
2–5 years after seizure onset, CSWS pattern emerges & is temporally associated with emergence of neuropsychological and behavioral disturbances as well as onset of atypical absence seizures in wakefulness.
No associated brain pathology
Typically some improvement in neurological status once epileptiform activity has resolved.
Severe myoclonic epilepsy or severe polymorphic epilepsy of infants.
Onset at 2-12months of age.
Early appearance of convulsive seizures which are prolonged (10 to 90 mins) and often lateralised.
Related to fever in two third to three-fourth
Myoclonic seizure occur during second and third year of life.
Massive myoclonias
Axial muscles-> falls
Predominate on awakening
Precipitated by variation in ambient light intensity
EEG-burst of irregular polyspike-wave
Segmental or erratic myoclonia
Distal limbs or face
More palpable than visible
Common during period of severe convulsion
Not associated with EEG paroxysm.
Atypical absence-40% Focal seizures-1/2 to 3/4th
Initial development normal, progress slows down in second and third year and comes to standstill
Ataxia-59% EEG-generalised discharges of fast spike-
wave or polyspike wave in burst or isolation Photic stimulation 40% Theta rhythm of 5-6Hz in central and vertex
95%
17 m. child with SW induced by opening and closing eyelidsRecurrence of diffuse SW during sleep
Treatment
Treatment of febrile diseases
Avoid hot baths
AED increased during vaccination
Valproate, benzodiazapines
Stiripentol
Onset between 3 and 8 years (peak 5–7 years). Acquired aphasia (verbal auditory agnosia). Continuous spike and wave discharges on EEG, activated in
sleep. Resolution of EEG abnormalities in adolescence. Deterioration or significant fluctuation in language are
indications to evaluate for LKS. Generalized or focal seizures occur in up to 80% of
children and may precede or follow the onset of aphasia Seizures commonly resolve before age 15 years Neuropsychological deficits tend to persist. many epileptologists consider CSWS and LKS on a common
syndromic spectrum and consider LKS a specific presentation of epilepsy with CSWS
Also called “pyknolepsy”
Onset between 4 and 10 years in a previously healthy child.
Frequent typical absence seizures.
Maintenance of neurological status and development during course of epilepsy.
Ictal EEG: generalized, high-amplitude 3 Hz spike and slow-wave complexes, lasting 4–20 s.
Generally responsive to antiepileptic drug (AED) usually with ethosuximide or valproate.
One-half of patients develop convulsive seizures, associated with a worse prognosis.
Onset 7–17 yrs (peak 10–12 yrs) in previously healthy child.
Typical absence seizures. Secondary seizure type: GTCS. Ictal EEG: generalized, high-amplitude spike and
slow-wave complexes ≥3.5 Hz, typically >4 s duration.
Absence seizures in JAE are more sporadic. EEG is slightly faster with generalized spike wave
paroxysms of 3.5–4 Hz. Usually controlled with AEDs Prognosis is favorable.
Onset 8 to 26 years (peak 12–18, mean 14 years).
Bilateral myoclonic jerks, most frequently upon awakening.
Secondary seizure types including GTCS and typical absence seizures.
Ictal EEG with generalized high-amplitude polyspike-and-wave.
Usually demonstrate a life-long predisposition to generalized seizures.
Severe myoclonias. Epilepsy with generalized seizures, especially tonic-clonic,
clonic-tonic-clonic, and clonic. Progressive course including dementia and cerebellar
manifestations. EEG typically shows progressive background slowing, generalized
and multifocal abnormalities, and photosensitivity Unverricht–Lundborg disease (ULD) and Lafora disease. Onset of ULD occurs between 7 and 16 years of age (peak 9–13
years) Characterized by severe myoclonias, generalized clonic-tonic-
clonic seizures, and cerebellar ataxia. ULD has a slow progression with little to no cognitive impairment Caused by a mutation in cystatin B gene
Lafora disease presents at a similar age
Has a severe prognosis
Rapid progression to dementia and nearly constant myoclonus
Death in 2–10 years.
Autosomal recessive inheritance
Caused by mutations in enzyme laforin.
Other PMEs include neuronal ceroidlipofuscinoses, sialidosis, and myoclonicepilepsy with ragged-red fibers (MERRF).
Onset 1-14 yrs of age
Focal onset motor seizures: simple partial or evolve into complex partial or secondary generalisation
Seizures start in same hemisphere
Progressive hemiatrophy with lesser atrophy on other side
More pronounced in perisylvian region
T/T-IVIg, corticosteroids
Hemispherectomy for resistant cases.
Ictal EEG showing nearly continuous sharp waves and spikes in the left frontal-temporal region
Thanks
Epilepsy in Children and Adolescents:Editor James W.
Wheless:Wiley-Blackwell:2013.
Aicardi's Epilepsy in Children;Third edition:Dec2003
Epileptic Syndromes in Childhood: Clinical Features, Outcomes and Treatment:Peter Camfield, Carol Camfield:Epilepsia,43(Suppl. 3):27–32, 2002
EEG in Benign and Malignant Epileptic Syndromes of Childhood:Ivo Drury:Epilepsia 43(Suppl. 3):17–26, 2002
Freedman SB, Powell EC. Pediatric seizures and their management in the emergency department. Clin PedEmerg Med. 2003;4:195-206.