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

Epilepsy Syndromes in Children - Childhood Onset Flashcards

1
Q

epilepsy syndromes of childhood

A

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)

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2
Q

genetic epilepsy with febrile seizures plus

A

familial electroclinical syndrome that can have onset in infancy or childhood

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3
Q

genetic epilepsy with febrile seizures plus - genetics

A

associated in at least some cases with mutations of the SCN1A gene encoding for a voltage-gated sodium channel subunit

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4
Q

genetic epilepsy with febrile seizures plus - seizure types

A

both generalized and focal seizures may occur

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5
Q

genetic epilepsy with febrile seizures plus - diagnosis

A

at least 2 family members should be affected to establish the diagnosis clinically

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6
Q

genetic epilepsy with febrile seizures plus - phenotypes

A

range from simple febrile seizures to mixed febrile and afebrile seizures that may be prolonged, focal, or occur in clusteres

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7
Q

genetic epilepsy with febrile seizures plus - clinical distinction between Dravet and Doose syndromes

A

may be challenging

hippocampal sclerosis may occur (sign of prolonged febrile seizure)

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8
Q

genetic epilepsy with febrile seizures plus - onset

A

usually between 6mo and 6 years of age

boys and girls affected equally

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9
Q

genetic epilepsy with febrile seizures plus - development

A

develop normally

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10
Q

genetic epilepsy with febrile seizures plus - inheritance

A

autosomal dominant with incomplete penetrance

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11
Q

genetic epilepsy with febrile seizures plus - gene mutations

A

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

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12
Q

genetic epilepsy with febrile seizures plus - treatment

A

recognition helps guide treatment since sodium channel blockers may be deleterious in this otherwise pharmacoresponsive epilepsy
no phenytoin, carbamazepine, oxcarbazepine, and lamotrigine

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13
Q

genetic epilepsy with febrile seizures plus - prognosis

A

remits by adolescence

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14
Q

panayiotopoulos syndrome

A

early onset childhood occipital epilepsy

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15
Q

panayiotopoulos syndrome - onset

A

usually between 3 and 6 years of age, although a wide range from 1 to as late as 14yrs has been described

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16
Q

panayiotopoulos syndrome - features

A

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

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17
Q

panayiotopoulos syndrome - classic scenario

A

seizure with recurrent vomiting with onset during sleep

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18
Q

panayiotopoulos syndrome - seizures

A

may secondarily generalize into convulsions

ddx of focal seizure

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19
Q

panayiotopoulos syndrome - EEG

A

spikes that can be shifting and multifocal

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20
Q

panayiotopoulos syndrome - etiology

A

unknown

no positive family history

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21
Q

panayiotopoulos syndrome - treatment

A

episodes infrequent

intermittent benzodiazepine use

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22
Q

panayiotopoulos syndrome - prognosis

A

long-term remission occurs within 2 years after onset, although there is a crossover with benign epilepsy with centrotemporal spikes (BECTS)

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23
Q

myoclonic-atonic epilepsy (Doose syndrome)

A

characteristic initial myoclonic component followed by a fall

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24
Q

myoclonic-atonic epilepsy (Doose syndrome) - symptoms

A

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

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25
Q

myoclonic-atonic epilepsy (Doose syndrome) - seizure types

A

myoclonic-atonic events
absence, tonic-clonic, and tonic
myoclonic or non convulsive status epilepticus

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26
Q

myoclonic-atonic epilepsy (Doose syndrome) - onset

A

between 18 months and 5 years of age

peak at 3 years

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27
Q

myoclonic-atonic epilepsy (Doose syndrome) - EEG

A

recurrent paroxysms of generalized spike or polyspike and wave, typically without clinical correlate and satisfactory background
parasagittal theta frequency slowing
photoparoxysmal response

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28
Q

myoclonic-atonic epilepsy (Doose syndrome) - myoclonic events on EEG

A

bursts of 2 Hz to 4 Hz epileptiform activity

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29
Q

myoclonic-atonic epilepsy (Doose syndrome) - genetics

A

family history positive for epilepsy

phenotype associated with the GEFS+ syndrome

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30
Q

myoclonic-atonic epilepsy (Doose syndrome) - mutations

A

SCN1A, SCN1B, GABRG2, SLC6A1

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31
Q

myoclonic-atonic epilepsy (Doose syndrome) - treatment

A

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

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32
Q

myoclonic-atonic epilepsy (Doose syndrome) - prognosis

A

long-term remission in majority of patients

remainder develop intractable epilepsy with intellectual impairment

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33
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy)

A

25% of all childhood epilepsies

nonlesional focal epilepsy with an excellent outcome

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34
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - onset

A

4-11 years
peak 7-8
male predominance

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35
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - timing

A

shortly after sleep onset or just before awakening

1/4 have seizures during active state

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36
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - seizure symptomology

A

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

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37
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - duration

A

brief, ranging from seconds to minutes

status epilepticus as well as Todd paresis may occur

38
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - EEG background

A

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

39
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - EEG classic finding

A

tangential electrical dipole with anterior positivity and centrotemporal negativity

40
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - development

A

cognition normal range

neuropsych deficits in language, visuospatial skills, verbal and nonverbal memory, and executive function skills

41
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - etiology

A

suspected genetic

complex inheritance

42
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - mutations

A

glutamate receptor GRIN2A

RBFOX1, RBFOX3, DEPDC5

43
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - who needs treatment?

A

reserved for patients with very frequent events or daytime events interfering with functioning or if secondary generalization occurs

44
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - treatment

A

generally pharmacoresponsive

carbamazepine, oxcarbazepine, levetiracetam, lamotrigine, and valproate

45
Q

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - prognosis

A

long-term remission almost universally attained by the age of 14-16 years

46
Q

late-onset childhood occipital epilepsy (Gastaut type) - onset

A

later in childhood

peak between 8 and 11 years

47
Q

late-onset childhood occipital epilepsy (Gastaut type) - symptomology

A

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

48
Q

late-onset childhood occipital epilepsy (Gastaut type) - EEG

A

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)

49
Q

late-onset childhood occipital epilepsy (Gastaut type) - treatment

A

meds typically used for focal-onset seizures are partly effective in producing seizure control

50
Q

late-onset childhood occipital epilepsy (Gastaut type) - prognosis

A

half the patients experience long-term remission

51
Q

epilepsy with myoclonic absences (Tassinari syndrome)

A

very prominent rhythmic myoclonic or clonic activity during absence seizures

52
Q

epilepsy with myoclonic absences (Tassinari syndrome) - onset

A

peaks at 7 years of age
range from 1-12 years
male predominates

53
Q

epilepsy with myoclonic absences (Tassinari syndrome) - associations

A

additional GTCs and cognitive impairment associated

54
Q

epilepsy with myoclonic absences (Tassinari syndrome) - EEG

A

similar to generalized 3 Hz spike-and-wave discharges of typical absence seizures with myoclonia occurring coincident with the spikes

55
Q

epilepsy with myoclonic absences (Tassinari syndrome) - genetics

A

family history positive for epilepsy

56
Q

epilepsy with myoclonic absences (Tassinari syndrome) - development

A

cognitive impairment

57
Q

epilepsy with myoclonic absences (Tassinari syndrome) - treatment

A

tend to be pharmacoresistant

medications used are similar for those of childhood absence epilepsy and generalized epilepsy with eyelid myoclonus

58
Q

Lennox-gastaut syndrome

A

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

59
Q

Lennox-gastaut syndrome - EEG background

A

slow (less than 3 Hz) spike-and-wave discharges, plus paroxysmal fast activity during sleep

60
Q

Lennox-gastaut syndrome - onset

A

by age of 8
peak incidence 3-5 years
male predominance
may be preceded by West syndrome

61
Q

Lennox-gastaut syndrome - etiology

A

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

62
Q

epileptic encephalopathy with continuous spike and wave in slow sleep

A

mixed generalized seizures, cognitive deterioration, and EEG pattern of electrical status epilepticus in slow sleep (ESES)

63
Q

epileptic encephalopathy with continuous spike and wave in slow sleep - onset

A

between 3 and 5 years of age

ESES pattern may not be present and diagnosis not established until years later

64
Q

epileptic encephalopathy with continuous spike and wave in slow sleep - EEG

A

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

65
Q

epileptic encephalopathy with continuous spike and wave in slow sleep - etiologies

A

range from cryptogenic to structural brain abnormalities (cortical dysplasia or polymicrogyria) to long-standing thalamic lesions

66
Q

epileptic encephalopathy with continuous spike and wave in slow sleep - treatment

A

attempted to improve EEG
valproate, levetiracetam, benzodiazepines, corticosteroid, or other anti seizure medications
epilepsy surgery may be indicated if patient has a resectable lesion

67
Q

epileptic encephalopathy with continuous spike and wave in slow sleep - prognosis

A

seizures typically remit by adolescence, but neurocognitive sequelae persist

68
Q

acquired epileptic aphasia (landau-kleffner syndrome)

A

acquired auditory agnosia as a presenting symptom - loss of understanding of previously familiar words or sounds

69
Q

acquired epileptic aphasia (landau-kleffner syndrome) - onset

A

2:1 male predominance
peak 3-7 years
range 2-14 years

70
Q

acquired epileptic aphasia (landau-kleffner syndrome) - characterized by

A

loss of previously acquired language skills
can be rapid or prolonged
associated attention and behavior problems and irritability are common

71
Q

acquired epileptic aphasia (landau-kleffner syndrome) - seizure types

A

both generalized and focal (infrequently)

72
Q

acquired epileptic aphasia (landau-kleffner syndrome) - EEG

A

may be represented by ESES, although predilection for the perisylvian and posterior temporal regions is typical

73
Q

acquired epileptic aphasia (landau-kleffner syndrome) - etiology

A

unknown

74
Q

acquired epileptic aphasia (landau-kleffner syndrome) - mutations

A

NMDA-R subunit gene GRIN2A

75
Q

acquired epileptic aphasia (landau-kleffner syndrome) - treatment

A

valproate or benzodiazepines and possibly steroids or IVIG

early therapeutic invervention may be related to improved outcomes

76
Q

childhood absence epilepsy (pyknolepsy) - onset

A

typical age of onset 4-10 years
peak 5-7 years
girls > boys

77
Q

childhood absence epilepsy (pyknolepsy) - earlier onset?

A

before age 4

concern regarding underlying glucose transporter type 1 deficiency

78
Q

childhood absence epilepsy (pyknolepsy) - later onset?

A

after age 11

unusual

79
Q

childhood absence epilepsy (pyknolepsy) - characterized by

A

typical absence seizures with generalized 3 Hz to 4 Hz spike-and-wave discharges with an otherwise normal background on EEG

80
Q

childhood absence epilepsy (pyknolepsy) - typical absence seizures

A

abrupt impairment of consciousness, often with associated behavioral arrest, staring, eye fluttering, or automatisms

81
Q

childhood absence epilepsy (pyknolepsy) - duration

A

usually about 10 seconds, although longer episodes may occur

82
Q

childhood absence epilepsy (pyknolepsy) - exacerbating factors

A

hyperventilation

83
Q

childhood absence epilepsy (pyknolepsy) - EEG

A

generalized bilateral synchronous and symmetric regular 3 Hz spike-and-wave paroxysms of abrupt onset and offset
tend to be frontal dominant

84
Q

childhood absence epilepsy (pyknolepsy) - genetics

A

voltage-gated calcium channel - CACNA1A

GABA-A receptor - GABRG2 and GABRG3

85
Q

childhood absence epilepsy (pyknolepsy) - treatment

A

ethosuximide is first line

valproic acid is secondary and if absence also has GTCS

86
Q

childhood absence epilepsy (pyknolepsy) - prognosis

A

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

87
Q

generalized epilepsy with eyelid myoclonia (Jeavons syndrome)

A

brief absences (usually less than 10 seconds) with prominent eye blinking and upward eye deviation, often triggered by eye closure

88
Q

generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - symptoms

A

blending of features of absence and myoclonic epilepsy

89
Q

generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - EEG

A

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

90
Q

generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - treatment

A

usually ones used for primary generalized seizures (valproic acid, ethosuximide, and benzodiazepines)

91
Q

generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - prognosis

A

variable

eyelid myoclonia can be frequent, GTCS may occur, and long-term remission is not the rule

Pediatric Neurology (10 decks)

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