Epilepsy Syndromes in Children - Infantile Onset

Question 1

infantile onset

Answer 1

range from benign and self-limited to sever with significant encephalopathy

Question 2

benign myoclonic epilepsy in infancy - onset

Answer 2

infants between 4mo and 3 years of age

Question 3

benign myoclonic epilepsy in infancy - seizures

Answer 3

myoclonic seizures

Question 4

benign myoclonic epilepsy in infancy - triggers

Answer 4

sensory stimuli, whether tactile, auditory, or photic

suggestive of reflex epilepsy

Question 5

benign myoclonic epilepsy in infancy - episodes

Answer 5

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

Question 6

benign myoclonic epilepsy in infancy - family

Answer 6

family history of generalized epilepsy or febrile seizures is present in up to 1/3 of patients

Question 7

benign myoclonic epilepsy in infancy - EEG

Answer 7

3-4Hz generalized spike- or polyspike-and-wave activity concomitant with myoclonic and sometimes a photoparoxysmal response

Question 8

benign myoclonic epilepsy in infancy - symptoms

Answer 8

GTCs may be seen later in childhood or even early adolescence

Question 9

benign myoclonic epilepsy in infancy - prognosis

Answer 9

long-term outlook is good

cognitive and behavioral impairments have been described

Question 10

benign myoclonic epilepsy in infancy - genes

Answer 10

SCN1A mutation - potassium channelopathy

Question 11

benign myoclonic epilepsy in infancy - medications

Answer 11

levitiracetam (keppra), valproate

- do not use dilantin, phenytoin, oxcarbazapine, carbazepine

Question 12

benign epilepsy of infancy/benign familial infantile epilepsy - symptomology

Answer 12

staring, decreased responsiveness, cessation of activity, eye deviation, and head turning
apnea, cyanosis
evolution to generalized convulsive seizures

Question 13

benign epilepsy of infancy/benign familial infantile epilepsy - frequency

Answer 13

clusters of seizures

Question 14

benign epilepsy of infancy/benign familial infantile epilepsy - development

Answer 14

initially neurodevelopmentally normal
later development of other paroxysmal symptoms including kinesigenic dyskinesia, episodic ataxia, familial hemiplegic migraine, or a combination

Question 15

benign epilepsy of infancy/benign familial infantile epilepsy - genetics

Answer 15

mutations of PRRT2

Autosomal dominant inheritance with variable penetrance

Question 16

benign epilepsy of infancy/benign familial infantile epilepsy - treatment

Answer 16

pharmacoresponsive - particularly to medications used in focal epilepsy
- carbamazepine (tegretol), lamotrigine (lamictal), oxcarbazepine (trileptal), topiramate (topamax)

Question 17

benign epilepsy of infancy/benign familial infantile epilepsy - prognosis

Answer 17

excellent for ultimate seizure remission and normal neurologic outcome other than development of movement disorders in some cases

Question 18

epilepsy of infancy with migrating focal seizures

Answer 18

rare but severe epilepsy

Question 19

epilepsy of infancy with migrating focal seizures - onset

Answer 19

following neonatal period but before 6 months of age

Question 20

epilepsy of infancy with migrating focal seizures - symptomology

Answer 20

multifocal seizures that have a ping-pong migratory quality

clinically can look like GTCS

Question 21

epilepsy of infancy with migrating focal seizures - prognosis

Answer 21

uniformly poor

Question 22

epilepsy of infancy with migrating focal seizures - genetics

Answer 22

sodium channels: SCN1A and SCN2A
phospholipase metabolism: PCLB1
potassium channelopathies: KCNT1 and SLC12A5

Question 23

epilepsy of infancy with migrating focal seizures - EEG

Answer 23

ping pong

Question 24

hemiconvulsive-hemiplegic-epilepsy syndrome

Answer 24

uncommon but important to recognize

Question 25

hemiconvulsive-hemiplegic-epilepsy syndrome - onset

Answer 25

infancy or childhood, usually before age 4

Question 26

hemiconvulsive-hemiplegic-epilepsy syndrome - manifestations

Answer 26

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

Question 27

hemiconvulsive-hemiplegic-epilepsy syndrome - incidence

Answer 27

decreasing, attributable to improved emergency treatment of status epilepticus and a decrease in febrile status epilepticus because of increased rates of childhood vaccination

Question 28

hemiconvulsive-hemiplegic-epilepsy syndrome - prognosis

Answer 28

some with latency periodwith evidence of seizure control, but months to years after onset develop pharmacoresistant focal-onset seizures

Question 29

hemiconvulsive-hemiplegic-epilepsy syndrome - etiology

Answer 29

preexisting structural abnormalities who develop superimposed acute-onset prolonged hemi-convulsions with subsequent hemiparesis underlying coagulation disorders genetic mutations -> SCN1A and CACNA1A

Question 30

hemiconvulsive-hemiplegic-epilepsy syndrome - presentation

Answer 30

fever and a mild illness, often an URI | suggests a contributory element of inflammation as well as hyperthermia

Question 31

hemiconvulsive-hemiplegic-epilepsy syndrome - EEG

Answer 31

may be bilateral acutely, both ictally and interictally, although predominant over the involved hemisphere over time, background activity improves over the contralateral hemisphere

Question 32

hemiconvulsive-hemiplegic-epilepsy syndrome - chronic stage EEG

Answer 32

ictal EEGs may be poorly localizing but usually lateralize to the involved side

Question 33

hemiconvulsive-hemiplegic-epilepsy syndrome - acute imaging

Answer 33

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

Question 34

hemiconvulsive-hemiplegic-epilepsy syndrome - chronic imaging

Answer 34

progressive hemiatrophy, with imaging findings that may be reminiscent of Rasmussen syndrome - distinction based on clinical grounds hippocampal sclerosis may be evident

Question 35

hemiconvulsive-hemiplegic-epilepsy syndrome - differentials

Answer 35

Rasmussen syndrome | febrile infection-related epilepsy syndrome (FIRES)

Question 36

hemiconvulsive-hemiplegic-epilepsy syndrome vs FIRES

Answer 36

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

Question 37

hemiconvulsive-hemiplegic-epilepsy syndrome - prognosis

Answer 37

variable, from resolution of hemiplegia and good intellectual outcome to pharmacoresistant and permanent hemiparesis

Question 38

hemiconvulsive-hemiplegic-epilepsy syndrome - treatment

Answer 38

epilepsy surgery, including lobar or multi lobar resection and hemispherectomy, may be required to obtain seizure control

Question 39

West syndrome

Answer 39

most common epilepsy syndrome in infancy, occurring an estimated 4 per 10,000 live births

Question 40

West syndrome - characterization

Answer 40

triad of epileptic spasms, hypsarrhythmia on EEG, and neurodevelopmental arrest or regression

Question 41

West syndrome - etiologies

Answer 41

diverse range | underlying cause can be identified in approximately half of cases following clinical eval and MRI

Question 42

West syndrome - genetic disorders

Answer 42

strong association with infantile spasms = tuberous sclerosis complex and Down syndrome mutations in CDKL5, ARX, FOXG1, GRIN1, GRIN2A, MAGI2, MEF2C, SLC25A22, SPTAN1, and STXBP1

Question 43

West syndrome - EEG

Answer 43

'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

Question 44

hypsarrhythmia scoring

Answer 44

assess the severity of hypsarrhythmia

Question 45

hypsarrhythmia on EEG

Answer 45

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

Question 46

West syndrome - treatemnt

Answer 46

adrenocorticotropic hormone (ACTH), prednisolone, or the GABA-transaminase inhibitor vagabatrin (particularly efficacious in children with TS)

Question 47

West syndrome - prognosis

Answer 47

high risk that patients will develop cognitive impairment, autism spectrum disorder, and chronic epilepsy, including Lennox-Gastaut syndrome

Question 48

severe myoclonic epilepsy of infancy (Dravet syndrome) - genetics

Answer 48

SCN1A mutations - recognized in at least 80% of patients

Question 49

severe myoclonic epilepsy of infancy (Dravet syndrome) - onset

Answer 49

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

Question 50

severe myoclonic epilepsy of infancy (Dravet syndrome) - characteristics

Answer 50

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

Question 51

severe myoclonic epilepsy of infancy (Dravet syndrome) vs. Lennox-Gastaut

Answer 51

Dravet - tonic clonic seizures are unusual

Question 52

severe myoclonic epilepsy of infancy (Dravet syndrome) - prognosis

Answer 52

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)

Question 53

severe myoclonic epilepsy of infancy (Dravet syndrome) - treatment

Answer 53

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

Question 54

severe myoclonic epilepsy of infancy (Dravet syndrome) - avoid

Answer 54

NO SODIUM CHANNEL BLOCKERS | - phenytoin, carbamazepine, oxcarbazine, zonisamide

Question 55

myoclonic encephalopathies in non progressive disorders -

Answer 55

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

Question 56

myoclonic encephalopathies in non progressive disorders - etiologies

Answer 56

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

Question 57

myoclonic encephalopathies in non progressive disorders - seizures

Answer 57

very frequently | SE not uncommon

Question 58

myoclonic encephalopathies in non progressive disorders - EEG

Answer 58

virtually continuous slow and superimposed spike activity so that it can be difficult to distinguish baseline from epileptic activity, especially in Angelman syndrome