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Pediatric Neurology > Epilepsy Syndromes in Children - Infantile Onset > Flashcards

Epilepsy Syndromes in Children - Infantile Onset Flashcards

1
Q

infantile onset

A

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

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2
Q

benign myoclonic epilepsy in infancy - onset

A

infants between 4mo and 3 years of age

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3
Q

benign myoclonic epilepsy in infancy - seizures

A

myoclonic seizures

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4
Q

benign myoclonic epilepsy in infancy - triggers

A

sensory stimuli, whether tactile, auditory, or photic

suggestive of reflex epilepsy

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5
Q

benign myoclonic epilepsy in infancy - episodes

A

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

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6
Q

benign myoclonic epilepsy in infancy - family

A

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

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7
Q

benign myoclonic epilepsy in infancy - EEG

A

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

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8
Q

benign myoclonic epilepsy in infancy - symptoms

A

GTCs may be seen later in childhood or even early adolescence

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9
Q

benign myoclonic epilepsy in infancy - prognosis

A

long-term outlook is good

cognitive and behavioral impairments have been described

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10
Q

benign myoclonic epilepsy in infancy - genes

A

SCN1A mutation - potassium channelopathy

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11
Q

benign myoclonic epilepsy in infancy - medications

A

levitiracetam (keppra), valproate

- do not use dilantin, phenytoin, oxcarbazapine, carbazepine

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12
Q

benign epilepsy of infancy/benign familial infantile epilepsy - symptomology

A

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

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13
Q

benign epilepsy of infancy/benign familial infantile epilepsy - frequency

A

clusters of seizures

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14
Q

benign epilepsy of infancy/benign familial infantile epilepsy - development

A

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

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15
Q

benign epilepsy of infancy/benign familial infantile epilepsy - genetics

A

mutations of PRRT2

Autosomal dominant inheritance with variable penetrance

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16
Q

benign epilepsy of infancy/benign familial infantile epilepsy - treatment

A

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

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17
Q

benign epilepsy of infancy/benign familial infantile epilepsy - prognosis

A

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

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18
Q

epilepsy of infancy with migrating focal seizures

A

rare but severe epilepsy

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19
Q

epilepsy of infancy with migrating focal seizures - onset

A

following neonatal period but before 6 months of age

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20
Q

epilepsy of infancy with migrating focal seizures - symptomology

A

multifocal seizures that have a ping-pong migratory quality

clinically can look like GTCS

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21
Q

epilepsy of infancy with migrating focal seizures - prognosis

A

uniformly poor

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22
Q

epilepsy of infancy with migrating focal seizures - genetics

A

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

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23
Q

epilepsy of infancy with migrating focal seizures - EEG

A

ping pong

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24
Q

hemiconvulsive-hemiplegic-epilepsy syndrome

A

uncommon but important to recognize

25
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - onset

A

infancy or childhood, usually before age 4

26
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - manifestations

A

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

27
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - incidence

A

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

28
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - prognosis

A

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

29
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - etiology

A

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

30
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - presentation

A

fever and a mild illness, often an URI

suggests a contributory element of inflammation as well as hyperthermia

31
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - EEG

A

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

32
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - chronic stage EEG

A

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

33
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - acute imaging

A

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

34
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - chronic imaging

A

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

35
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - differentials

A

Rasmussen syndrome

febrile infection-related epilepsy syndrome (FIRES)

36
Q

hemiconvulsive-hemiplegic-epilepsy syndrome vs FIRES

A

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

37
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - prognosis

A

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

38
Q

hemiconvulsive-hemiplegic-epilepsy syndrome - treatment

A

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

39
Q

West syndrome

A

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

40
Q

West syndrome - characterization

A

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

41
Q

West syndrome - etiologies

A

diverse range

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

42
Q

West syndrome - genetic disorders

A

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

43
Q

West syndrome - EEG

A

‘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

44
Q

hypsarrhythmia scoring

A

assess the severity of hypsarrhythmia

45
Q

hypsarrhythmia on EEG

A

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

46
Q

West syndrome - treatemnt

A

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

47
Q

West syndrome - prognosis

A

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

48
Q

severe myoclonic epilepsy of infancy (Dravet syndrome) - genetics

A

SCN1A mutations - recognized in at least 80% of patients

49
Q

severe myoclonic epilepsy of infancy (Dravet syndrome) - onset

A

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

50
Q

severe myoclonic epilepsy of infancy (Dravet syndrome) - characteristics

A

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

51
Q

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

A

Dravet - tonic clonic seizures are unusual

52
Q

severe myoclonic epilepsy of infancy (Dravet syndrome) - prognosis

A

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)

53
Q

severe myoclonic epilepsy of infancy (Dravet syndrome) - treatment

A

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

54
Q

severe myoclonic epilepsy of infancy (Dravet syndrome) - avoid

A

NO SODIUM CHANNEL BLOCKERS

- phenytoin, carbamazepine, oxcarbazine, zonisamide

55
Q

myoclonic encephalopathies in non progressive disorders -

A

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

56
Q

myoclonic encephalopathies in non progressive disorders - etiologies

A

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

57
Q

myoclonic encephalopathies in non progressive disorders - seizures

A

very frequently

SE not uncommon

58
Q

myoclonic encephalopathies in non progressive disorders - EEG

A

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

Pediatric Neurology (10 decks)

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