Epilepsy Syndromes in Children - Childhood Onset Flashcards
epilepsy syndromes of childhood
range from relatively common and more benign disorders (including focal-onset seizure type as in benign rolandic epilepsy and the early- and late-onset forms of benign occipital epilepsy and generalized-onset forms such as childhood absence epilepsy) to epileptic encephalopathies raging from Lennox-Gastaut syndrome to epileptic encephalopathy with continuous spike and wave in slow sleep (CSWS)
genetic epilepsy with febrile seizures plus
familial electroclinical syndrome that can have onset in infancy or childhood
genetic epilepsy with febrile seizures plus - genetics
associated in at least some cases with mutations of the SCN1A gene encoding for a voltage-gated sodium channel subunit
genetic epilepsy with febrile seizures plus - seizure types
both generalized and focal seizures may occur
genetic epilepsy with febrile seizures plus - diagnosis
at least 2 family members should be affected to establish the diagnosis clinically
genetic epilepsy with febrile seizures plus - phenotypes
range from simple febrile seizures to mixed febrile and afebrile seizures that may be prolonged, focal, or occur in clusteres
genetic epilepsy with febrile seizures plus - clinical distinction between Dravet and Doose syndromes
may be challenging
hippocampal sclerosis may occur (sign of prolonged febrile seizure)
genetic epilepsy with febrile seizures plus - onset
usually between 6mo and 6 years of age
boys and girls affected equally
genetic epilepsy with febrile seizures plus - development
develop normally
genetic epilepsy with febrile seizures plus - inheritance
autosomal dominant with incomplete penetrance
genetic epilepsy with febrile seizures plus - gene mutations
identified in a minor of affected families and are usually of missense type
SCN1A, SCN1B, and GABA-A receptor geen GABRG2
truncation mutations more likely associated with more severe phenotypes
genetic epilepsy with febrile seizures plus - treatment
recognition helps guide treatment since sodium channel blockers may be deleterious in this otherwise pharmacoresponsive epilepsy
no phenytoin, carbamazepine, oxcarbazepine, and lamotrigine
genetic epilepsy with febrile seizures plus - prognosis
remits by adolescence
panayiotopoulos syndrome
early onset childhood occipital epilepsy
panayiotopoulos syndrome - onset
usually between 3 and 6 years of age, although a wide range from 1 to as late as 14yrs has been described
panayiotopoulos syndrome - features
autonomic component - bowel or bladder incontinence, pallor, pupillary changes, and syncope
can be prolonged (at least 5mins and sometimes even hrs) and feature nausea, vomiting, and eye deviation with preserved consciousness
panayiotopoulos syndrome - classic scenario
seizure with recurrent vomiting with onset during sleep
panayiotopoulos syndrome - seizures
may secondarily generalize into convulsions
ddx of focal seizure
panayiotopoulos syndrome - EEG
spikes that can be shifting and multifocal
panayiotopoulos syndrome - etiology
unknown
no positive family history
panayiotopoulos syndrome - treatment
episodes infrequent
intermittent benzodiazepine use
panayiotopoulos syndrome - prognosis
long-term remission occurs within 2 years after onset, although there is a crossover with benign epilepsy with centrotemporal spikes (BECTS)
myoclonic-atonic epilepsy (Doose syndrome)
characteristic initial myoclonic component followed by a fall
myoclonic-atonic epilepsy (Doose syndrome) - symptoms
myoclonus manifests as large-amplitude symmetric jerks of the arms, legs, neck, and shoulders that may result in a head drop and upper limb flexion or abduction
followed by loss of muscle tone and a fall
myoclonic-atonic epilepsy (Doose syndrome) - seizure types
myoclonic-atonic events
absence, tonic-clonic, and tonic
myoclonic or non convulsive status epilepticus
myoclonic-atonic epilepsy (Doose syndrome) - onset
between 18 months and 5 years of age
peak at 3 years
myoclonic-atonic epilepsy (Doose syndrome) - EEG
recurrent paroxysms of generalized spike or polyspike and wave, typically without clinical correlate and satisfactory background
parasagittal theta frequency slowing
photoparoxysmal response
myoclonic-atonic epilepsy (Doose syndrome) - myoclonic events on EEG
bursts of 2 Hz to 4 Hz epileptiform activity
myoclonic-atonic epilepsy (Doose syndrome) - genetics
family history positive for epilepsy
phenotype associated with the GEFS+ syndrome
myoclonic-atonic epilepsy (Doose syndrome) - mutations
SCN1A, SCN1B, GABRG2, SLC6A1
myoclonic-atonic epilepsy (Doose syndrome) - treatment
standard AED: valproic acid, ethosuximide, or benzodiazepines
- topiramate, lamotrigine, rufinamide, and levetiracetam may also show benefit
ketogenic diet
vagus nerve stimulator or corpus callosotomy unclear
myoclonic-atonic epilepsy (Doose syndrome) - prognosis
long-term remission in majority of patients
remainder develop intractable epilepsy with intellectual impairment
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy)
25% of all childhood epilepsies
nonlesional focal epilepsy with an excellent outcome
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - onset
4-11 years
peak 7-8
male predominance
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - timing
shortly after sleep onset or just before awakening
1/4 have seizures during active state
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - seizure symptomology
begin with paresthesia on one side of the tongue or mouth, followed by dysarthria or gagging-type noises, jerking of the ipsilateral face, and excessive drooling
secondary generalization may occur
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - duration
brief, ranging from seconds to minutes
status epilepticus as well as Todd paresis may occur
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - EEG background
normal
punctuated by high-voltage sharp or blunt spike discharges involving either centrotemporal region (ie. rolandic spikes)
potentiation during the drowsy and non-REM sleep states
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - EEG classic finding
tangential electrical dipole with anterior positivity and centrotemporal negativity
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - development
cognition normal range
neuropsych deficits in language, visuospatial skills, verbal and nonverbal memory, and executive function skills
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - etiology
suspected genetic
complex inheritance
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - mutations
glutamate receptor GRIN2A
RBFOX1, RBFOX3, DEPDC5
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - who needs treatment?
reserved for patients with very frequent events or daytime events interfering with functioning or if secondary generalization occurs
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - treatment
generally pharmacoresponsive
carbamazepine, oxcarbazepine, levetiracetam, lamotrigine, and valproate
benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - prognosis
long-term remission almost universally attained by the age of 14-16 years
late-onset childhood occipital epilepsy (Gastaut type) - onset
later in childhood
peak between 8 and 11 years
late-onset childhood occipital epilepsy (Gastaut type) - symptomology
visual hallucinations, eye deviation, eye flutters, transient vision loss, and ocular pain
postictal headache common and prominent
secondary generalization with loss of consciousness and convulsive activity
late-onset childhood occipital epilepsy (Gastaut type) - EEG
bilateral occipital spike-and-wave discharges precipitated by eye closure and attenuated by eye opening
‘fixation off’ phenomenon (visual fixation will abort the spike-wave discharges)
late-onset childhood occipital epilepsy (Gastaut type) - treatment
meds typically used for focal-onset seizures are partly effective in producing seizure control
late-onset childhood occipital epilepsy (Gastaut type) - prognosis
half the patients experience long-term remission
epilepsy with myoclonic absences (Tassinari syndrome)
very prominent rhythmic myoclonic or clonic activity during absence seizures
epilepsy with myoclonic absences (Tassinari syndrome) - onset
peaks at 7 years of age
range from 1-12 years
male predominates
epilepsy with myoclonic absences (Tassinari syndrome) - associations
additional GTCs and cognitive impairment associated
epilepsy with myoclonic absences (Tassinari syndrome) - EEG
similar to generalized 3 Hz spike-and-wave discharges of typical absence seizures with myoclonia occurring coincident with the spikes
epilepsy with myoclonic absences (Tassinari syndrome) - genetics
family history positive for epilepsy
epilepsy with myoclonic absences (Tassinari syndrome) - development
cognitive impairment
epilepsy with myoclonic absences (Tassinari syndrome) - treatment
tend to be pharmacoresistant
medications used are similar for those of childhood absence epilepsy and generalized epilepsy with eyelid myoclonus
Lennox-gastaut syndrome
constellation of multiple generalized seizure types, with tonic being predominant, slow (less than 3 Hz) spike-and-wave discharges, plus paroxysmal fast activity during sleep, and cognitive impairment with regression
Lennox-gastaut syndrome - EEG background
slow (less than 3 Hz) spike-and-wave discharges, plus paroxysmal fast activity during sleep
Lennox-gastaut syndrome - onset
by age of 8
peak incidence 3-5 years
male predominance
may be preceded by West syndrome
Lennox-gastaut syndrome - etiology
many have no discernible etiology
others assoc with structural lesions (focal cortical dysplasia, subcortical band heterotopia, perisylvian polymicrogyria) as well as phakomatoses (tuberous sclerosis complex, hypomelanosis of Ito), meningitis or encephalitis, HIE, and genetic epilepsies
epileptic encephalopathy with continuous spike and wave in slow sleep
mixed generalized seizures, cognitive deterioration, and EEG pattern of electrical status epilepticus in slow sleep (ESES)
epileptic encephalopathy with continuous spike and wave in slow sleep - onset
between 3 and 5 years of age
ESES pattern may not be present and diagnosis not established until years later
epileptic encephalopathy with continuous spike and wave in slow sleep - EEG
ESES: spike-wave activity occupying 85% of slow-wave sleep, usually manifested by slow (1.5 Hz to 2.5 Hz) spike-wave discharges having a diffuse distribution
epileptic encephalopathy with continuous spike and wave in slow sleep - etiologies
range from cryptogenic to structural brain abnormalities (cortical dysplasia or polymicrogyria) to long-standing thalamic lesions
epileptic encephalopathy with continuous spike and wave in slow sleep - treatment
attempted to improve EEG
valproate, levetiracetam, benzodiazepines, corticosteroid, or other anti seizure medications
epilepsy surgery may be indicated if patient has a resectable lesion
epileptic encephalopathy with continuous spike and wave in slow sleep - prognosis
seizures typically remit by adolescence, but neurocognitive sequelae persist
acquired epileptic aphasia (landau-kleffner syndrome)
acquired auditory agnosia as a presenting symptom - loss of understanding of previously familiar words or sounds
acquired epileptic aphasia (landau-kleffner syndrome) - onset
2:1 male predominance
peak 3-7 years
range 2-14 years
acquired epileptic aphasia (landau-kleffner syndrome) - characterized by
loss of previously acquired language skills
can be rapid or prolonged
associated attention and behavior problems and irritability are common
acquired epileptic aphasia (landau-kleffner syndrome) - seizure types
both generalized and focal (infrequently)
acquired epileptic aphasia (landau-kleffner syndrome) - EEG
may be represented by ESES, although predilection for the perisylvian and posterior temporal regions is typical
acquired epileptic aphasia (landau-kleffner syndrome) - etiology
unknown
acquired epileptic aphasia (landau-kleffner syndrome) - mutations
NMDA-R subunit gene GRIN2A
acquired epileptic aphasia (landau-kleffner syndrome) - treatment
valproate or benzodiazepines and possibly steroids or IVIG
early therapeutic invervention may be related to improved outcomes
childhood absence epilepsy (pyknolepsy) - onset
typical age of onset 4-10 years
peak 5-7 years
girls > boys
childhood absence epilepsy (pyknolepsy) - earlier onset?
before age 4
concern regarding underlying glucose transporter type 1 deficiency
childhood absence epilepsy (pyknolepsy) - later onset?
after age 11
unusual
childhood absence epilepsy (pyknolepsy) - characterized by
typical absence seizures with generalized 3 Hz to 4 Hz spike-and-wave discharges with an otherwise normal background on EEG
childhood absence epilepsy (pyknolepsy) - typical absence seizures
abrupt impairment of consciousness, often with associated behavioral arrest, staring, eye fluttering, or automatisms
childhood absence epilepsy (pyknolepsy) - duration
usually about 10 seconds, although longer episodes may occur
childhood absence epilepsy (pyknolepsy) - exacerbating factors
hyperventilation
childhood absence epilepsy (pyknolepsy) - EEG
generalized bilateral synchronous and symmetric regular 3 Hz spike-and-wave paroxysms of abrupt onset and offset
tend to be frontal dominant
childhood absence epilepsy (pyknolepsy) - genetics
voltage-gated calcium channel - CACNA1A
GABA-A receptor - GABRG2 and GABRG3
childhood absence epilepsy (pyknolepsy) - treatment
ethosuximide is first line
valproic acid is secondary and if absence also has GTCS
childhood absence epilepsy (pyknolepsy) - prognosis
often good, with seizure freedom reported in 57-74% of patients
comorbidities: inattention, learning disabilities involving verbal and visuospatial skills, depression, anxiety, low self-esteem, and social isolation
generalized epilepsy with eyelid myoclonia (Jeavons syndrome)
brief absences (usually less than 10 seconds) with prominent eye blinking and upward eye deviation, often triggered by eye closure
generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - symptoms
blending of features of absence and myoclonic epilepsy
generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - EEG
ictal EEG reveals diffuse 3 to 6 Hz polyspike-and-wave complexes that may be precipitated by eye closure
occasional preceding occipital bursts
generalized photo paroxysmal response - can be ameliorated by using blue-colored or polarized lenses
generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - treatment
usually ones used for primary generalized seizures (valproic acid, ethosuximide, and benzodiazepines)
generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - prognosis
variable
eyelid myoclonia can be frequent, GTCS may occur, and long-term remission is not the rule
