Epilepsy Syndromes in Children - Infantile Onset Flashcards
infantile onset
range from benign and self-limited to sever with significant encephalopathy
benign myoclonic epilepsy in infancy - onset
infants between 4mo and 3 years of age
benign myoclonic epilepsy in infancy - seizures
myoclonic seizures
benign myoclonic epilepsy in infancy - triggers
sensory stimuli, whether tactile, auditory, or photic
suggestive of reflex epilepsy
benign myoclonic epilepsy in infancy - episodes
episodes may be very subtle, especially at onset
brief head nods or eye rolling
eventually increase in frequency and involve altered responsiveness and sometimes falls
benign myoclonic epilepsy in infancy - family
family history of generalized epilepsy or febrile seizures is present in up to 1/3 of patients
benign myoclonic epilepsy in infancy - EEG
3-4Hz generalized spike- or polyspike-and-wave activity concomitant with myoclonic and sometimes a photoparoxysmal response
benign myoclonic epilepsy in infancy - symptoms
GTCs may be seen later in childhood or even early adolescence
benign myoclonic epilepsy in infancy - prognosis
long-term outlook is good
cognitive and behavioral impairments have been described
benign myoclonic epilepsy in infancy - genes
SCN1A mutation - potassium channelopathy
benign myoclonic epilepsy in infancy - medications
levitiracetam (keppra), valproate
- do not use dilantin, phenytoin, oxcarbazapine, carbazepine
benign epilepsy of infancy/benign familial infantile epilepsy - symptomology
staring, decreased responsiveness, cessation of activity, eye deviation, and head turning
apnea, cyanosis
evolution to generalized convulsive seizures
benign epilepsy of infancy/benign familial infantile epilepsy - frequency
clusters of seizures
benign epilepsy of infancy/benign familial infantile epilepsy - development
initially neurodevelopmentally normal
later development of other paroxysmal symptoms including kinesigenic dyskinesia, episodic ataxia, familial hemiplegic migraine, or a combination
benign epilepsy of infancy/benign familial infantile epilepsy - genetics
mutations of PRRT2
Autosomal dominant inheritance with variable penetrance
benign epilepsy of infancy/benign familial infantile epilepsy - treatment
pharmacoresponsive - particularly to medications used in focal epilepsy
- carbamazepine (tegretol), lamotrigine (lamictal), oxcarbazepine (trileptal), topiramate (topamax)
benign epilepsy of infancy/benign familial infantile epilepsy - prognosis
excellent for ultimate seizure remission and normal neurologic outcome other than development of movement disorders in some cases
epilepsy of infancy with migrating focal seizures
rare but severe epilepsy
epilepsy of infancy with migrating focal seizures - onset
following neonatal period but before 6 months of age
epilepsy of infancy with migrating focal seizures - symptomology
multifocal seizures that have a ping-pong migratory quality
clinically can look like GTCS
epilepsy of infancy with migrating focal seizures - prognosis
uniformly poor
epilepsy of infancy with migrating focal seizures - genetics
sodium channels: SCN1A and SCN2A
phospholipase metabolism: PCLB1
potassium channelopathies: KCNT1 and SLC12A5
epilepsy of infancy with migrating focal seizures - EEG
ping pong
hemiconvulsive-hemiplegic-epilepsy syndrome
uncommon but important to recognize
hemiconvulsive-hemiplegic-epilepsy syndrome - onset
infancy or childhood, usually before age 4
hemiconvulsive-hemiplegic-epilepsy syndrome - manifestations
prolonged unilateral convulsive seizures (super-refractory status epilepticus) >24hrs in the context of a febrile illness followed by hemiparesis, progressive cerebral hemiatrophy and epilepsy that may become intractable over time
hemiconvulsive-hemiplegic-epilepsy syndrome - incidence
decreasing, attributable to improved emergency treatment of status epilepticus and a decrease in febrile status epilepticus because of increased rates of childhood vaccination
hemiconvulsive-hemiplegic-epilepsy syndrome - prognosis
some with latency periodwith evidence of seizure control, but months to years after onset develop pharmacoresistant focal-onset seizures
hemiconvulsive-hemiplegic-epilepsy syndrome - etiology
preexisting structural abnormalities who develop superimposed acute-onset prolonged hemi-convulsions with subsequent hemiparesis
underlying coagulation disorders
genetic mutations -> SCN1A and CACNA1A
hemiconvulsive-hemiplegic-epilepsy syndrome - presentation
fever and a mild illness, often an URI
suggests a contributory element of inflammation as well as hyperthermia
hemiconvulsive-hemiplegic-epilepsy syndrome - EEG
may be bilateral acutely, both ictally and interictally, although predominant over the involved hemisphere
over time, background activity improves over the contralateral hemisphere
hemiconvulsive-hemiplegic-epilepsy syndrome - chronic stage EEG
ictal EEGs may be poorly localizing but usually lateralize to the involved side
hemiconvulsive-hemiplegic-epilepsy syndrome - acute imaging
edema of the involved hemisphere with abnormal signal of subcortical white matter and cortex but in a nonvascular distribution
DWI - signal is notably increased in the ipsilateral basal ganglia, thalamus, and internal capsule
hemiconvulsive-hemiplegic-epilepsy syndrome - chronic imaging
progressive hemiatrophy, with imaging findings that may be reminiscent of Rasmussen syndrome - distinction based on clinical grounds
hippocampal sclerosis may be evident
hemiconvulsive-hemiplegic-epilepsy syndrome - differentials
Rasmussen syndrome
febrile infection-related epilepsy syndrome (FIRES)
hemiconvulsive-hemiplegic-epilepsy syndrome vs FIRES
hemiconvulsive-hemiplegic-epilepsy syndrome = lateralized aspect; more typical to see a seizure free period in the range of months to years, although unprovoked seizures may then ensue
FIRES = acute phase of refractory seizures or status epileptics tends to be associated with cognitive deficits (often severe) and highly pharmacoresistant epilepsy
hemiconvulsive-hemiplegic-epilepsy syndrome - prognosis
variable, from resolution of hemiplegia and good intellectual outcome to pharmacoresistant and permanent hemiparesis
hemiconvulsive-hemiplegic-epilepsy syndrome - treatment
epilepsy surgery, including lobar or multi lobar resection and hemispherectomy, may be required to obtain seizure control
West syndrome
most common epilepsy syndrome in infancy, occurring an estimated 4 per 10,000 live births
West syndrome - characterization
triad of epileptic spasms, hypsarrhythmia on EEG, and neurodevelopmental arrest or regression
West syndrome - etiologies
diverse range
underlying cause can be identified in approximately half of cases following clinical eval and MRI
West syndrome - genetic disorders
strong association with infantile spasms = tuberous sclerosis complex and Down syndrome
mutations in CDKL5, ARX, FOXG1, GRIN1, GRIN2A, MAGI2, MEF2C, SLC25A22, SPTAN1, and STXBP1
West syndrome - EEG
‘chaotic rhythm’, hypsarrhythmia = continuously abnormal pattern of very-high-amplitude (often up to 500microV) with asynchronous slow waves and multifocal spikes and polyspikes
pseudonormalization upon arousal and in REM sleep
variants, such as increased interhemispheric synchronization, hemihypsarrhythmia, and hypsarrhythmia characterized by predominantly slow waves, discontinuous records, and focal abnormalities
hypsarrhythmia scoring
assess the severity of hypsarrhythmia
hypsarrhythmia on EEG
interictal background, while the actual spasm has an ictal signature that also has multiple forms, usually manifested as a high-voltage transient, either a diffuse slow or sharp wave, followed by an electrodecremental response with superimposed low-amplitude fast activity
West syndrome - treatemnt
adrenocorticotropic hormone (ACTH), prednisolone, or the GABA-transaminase inhibitor vagabatrin (particularly efficacious in children with TS)
West syndrome - prognosis
high risk that patients will develop cognitive impairment, autism spectrum disorder, and chronic epilepsy, including Lennox-Gastaut syndrome
severe myoclonic epilepsy of infancy (Dravet syndrome) - genetics
SCN1A mutations - recognized in at least 80% of patients
severe myoclonic epilepsy of infancy (Dravet syndrome) - onset
very sensitive to elevated temperature, both fever and ambient temperatures
initially experience hemiconvulsive febrile seizures and go on to have recurrent febrile and afebrile myoclonic, focal, and generalized (atypical absence and convulsive) seizures
severe myoclonic epilepsy of infancy (Dravet syndrome) - characteristics
hemiconvulsive aspect alternate sides, which is characteristic of the syndrome
reflex seizures may occur, whether in response to fever, immersion in hot water, intense physical activity, visual patterns, or photosensitivity
severe myoclonic epilepsy of infancy (Dravet syndrome) vs. Lennox-Gastaut
Dravet - tonic clonic seizures are unusual
severe myoclonic epilepsy of infancy (Dravet syndrome) - prognosis
medically intractable epilepsy that leads to cognitive decline and motor deficits, including development of a crouch gait by the time of adolescence
recognized association exists with status epilepticus as well as sudden unexpected death in epilepsy (SUDEP)
severe myoclonic epilepsy of infancy (Dravet syndrome) - treatment
valproate, clobazam, and stiripentol
ketogenic diet
role may exist for cannabidiol, although its reported efficacy could be related to drug-drug interactions -> higher clobazam levels
severe myoclonic epilepsy of infancy (Dravet syndrome) - avoid
NO SODIUM CHANNEL BLOCKERS
- phenytoin, carbamazepine, oxcarbazine, zonisamide
myoclonic encephalopathies in non progressive disorders -
group of syndromes having the common features of myoclonic seizures presenting between 1 month and 6 months of age in children with neurodevelopmental impairment and pharmacoresistant epilepsy
myoclonic encephalopathies in non progressive disorders - etiologies
most commonly genetic: Angelman, Rett, Prader-Willi, or Wolf-Hirschhorn (4p-) syndromes
other causes characterized as underlying malformations of cortical development (polymicrogyria), remote injury (prenatal or perinatal HIE), or unknown etiology
myoclonic encephalopathies in non progressive disorders - seizures
very frequently
SE not uncommon
myoclonic encephalopathies in non progressive disorders - EEG
virtually continuous slow and superimposed spike activity so that it can be difficult to distinguish baseline from epileptic activity, especially in Angelman syndrome
