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

Epilepsy Syndromes in Children - Adolescent Onset Flashcards

1
Q

common epilepsies

A

commonly known generalized epilepsies: juvenile absence and juvenile myoclonic epilepsy, progressive myoclonus epilepsies
focal-onset: mesial temporal lobe epilepsy with hippocampal sclerosis, autosomal dominant focal epilepsy with auditory features, and autosomal dominant nocturnal frontal lobe epilepsy

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2
Q

juvenile absence epilepsy

A

absence syndrome having later onset than childhood absence epilepsy and without typical clustering

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3
Q

juvenile absence epilepsy - age of onset

A

peaks at 15 years, with range of 10 to 19 years

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4
Q

juvenile absence epilepsy - symptoms

A

more sporadic and somewhat longer

automatisms, speech arrest, and loss of awareness are frequently seen

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5
Q

juvenile absence epilepsy - EEG

A

paroxysms of generalized 3 to 4 Hz spike- or polyspike-and-wave activity

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6
Q

juvenile absence epilepsy - triggers

A

sleep deprivation, alcohol, and hyperventilation

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7
Q

juvenile absence epilepsy - seizure types

A

myoclonic and generalized tonic-clonic seizes may occur, but are less prominent than in JME

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8
Q

juvenile absence epilepsy - treatment

A

respond to ethosuximide
broader spectrum agents (valproate or lamotrigine) useful if additional seizure types occur
generally pharmacoresponsive

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9
Q

juvenile absence epilepsy - medications to avoid

A

exacerbate absence seizures

phenytoin, carbamazepine, gabapentin, pregabalin, and vigabatrin

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10
Q

juvenile absence epilepsy - valproate side effects

A

hepatopathy, pancreatitis, thrombocytopenia
risk of congenital malformations and early childhood cognitive effects if administered to women during the first trimester of pregnancy

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11
Q

juvenile absence epilepsy - prognosis

A

achieve seizure control, but a lifelong requirement of medication is expected

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12
Q

juvenile myoclonic epilepsy - onset

A

between 12 and 18 years of age

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13
Q

juvenile myoclonic epilepsy - clinical features

A

myoclonic seizures predominantly involving the upper extremities, especially upon wakening

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14
Q

juvenile myoclonic epilepsy - seizure types

A

additionally develop generalized tonic-clonic seizures and at least one third will experience absence seizures

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15
Q

juvenile myoclonic epilepsy - EEG

A

background is preserved, but features abrupt paroxysmal generalized 4 to 6 Hz spike- or polyspike-and-slow-wave activity, sometimes described as having an inverted W configuration
discharges are potentiated by sleep and, in particular, sleep deprivation

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16
Q

juvenile myoclonic epilepsy - triggers

A

sleep deprivation, arousal, alcohol use, menses, and photic stimulation

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17
Q

juvenile myoclonic epilepsy - ictal EEG

A

myoclonic seizures tend to be accompanied by rapid polyspikes in the range of 10 to 16 Hz or fast spike-and-wave activity
generalized tonic-clonic seizures may follow escalation of the myoclonic seizures or occur independently

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18
Q

juvenile myoclonic epilepsy - etiology

A

complex genetics
may be positive family history of epilepsy
implied a role for mutations of GABRA1 gene of the GABA-A receptor as well as genes encoding for voltage-gated potassium channels, chloride channels, and other genes

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19
Q

juvenile myoclonic epilepsy - prognosis

A

mixed - seizure freedom is achievable, but remission is not expected
vast majority relapse when taken off medications

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20
Q

juvenile myoclonic epilepsy - treatment

A

valproate avoid in women of child-bearing age d/t teratogenicity and polycystic ovary syndrome
- advantage for comorbidities of migraine or bipolar
- high rate of psychiatric comorbidity exists
levetiracetam or lamotrigine

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21
Q

juvenile myoclonic epilepsy - meds to avoid

A

worsened by carbamazepine, oxcarbazepine, phenytoin, gabapentin, and vigabatrin

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22
Q

juvenile myoclonic epilepsy - prognostic factors

A

presence of generalized tonic-clonic seizures or EEG worsening during or following medication withdrawal are prognostic factors for higher risk of seizure recurrence

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23
Q

epilepsy with generalized tonic-clonic seizures alone - age of onset

A

typical age of 16 years with a range of 6 and 28 years

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24
Q

epilepsy with generalized tonic-clonic seizures alone - symptoms

A

designation of generalized tonic-clonic seizures upon awakening fits into this classification
occur within 1-2hrs of awakening and sometimes upon falling asleep

25
Q

epilepsy with generalized tonic-clonic seizures alone - EEG

A

3 Hz to 4 Hz generalized spike-and-slow-wave paroxysms

26
Q

epilepsy with generalized tonic-clonic seizures alone - triggers

A

sleep deprivation, photic stimulation, stress, and alcohol

27
Q

epilepsy with generalized tonic-clonic seizures alone - symptoms

A

absence episodes can be documented, although they are not the predominant seizure type

28
Q

epilepsy with generalized tonic-clonic seizures alone - treatment

A

pharmacoresponsive

29
Q

epilepsy with generalized tonic-clonic seizures alone - prognosis

A

lifelong predisposition to seizures

30
Q

progressive myoclonic epilepsies

A

constellation of disorders manifesting as myoclonus (cortical and subcortical) along with cognitive regression, usually with onset during adolescence

31
Q

progressive myoclonic epilepsies - symptoms

A

GTCS can occur

challenge to distinguish from JME, especially at onset

32
Q

progressive myoclonic epilepsies - vs. JME

A

associated ataxia often exists in progressive myoclonus epilepsies

33
Q

progressive myoclonic epilepsies - etiology

A

most common are Unverricht-Lundborg disease (Baltic myoclonus disease), Lafora body disease, myoclonic epilepsy with ragged red fibers (MERRF), and neuronal ceroid lipofuscinosis

34
Q

progressive myoclonic epilepsies - EEG

A

most frequently encountered is generalized spike- or polyspike-and-wave and a photoparoxysmal response

35
Q

progressive myoclonic epilepsies - Unverricht-Lundborg disease

A

autosomal recessive disease caused by dodecamer repeat expansions or point mutations in the cystatin B gene
neuronal inclusions are not present
age at onset between 6 and 16
EEG shows progression, including slower background along with epileptiform activity

36
Q

progressive myoclonic epilepsies - Lafora body disease

A

autosomal recessive characterized by polyglucosan intracellular neuronal inclusions that are positive during histologic periodic acid-Schiff staining
develop myoclonic and GTCS, myoclonus, vision loss, cerebellar ataxia, and dementia
associated gene NHLRC1 encodes for laforin, a tyrosine phosphatase

37
Q

progressive myoclonic epilepsies - MERRF

A

mitochondrial disorder leading to myoclonus, generalized seizures, encephalopathy, ataxia, vision and hearing loss, neuropathy, and myopathy
muscle biopsy reveals so-called ragged red fibers on Gomori trichome staining
inheritance is matrilineal and onset is second decade of life

38
Q

progressive myoclonic epilepsies - neuronal ceroid lipofuscinosis

A

heterogenous group of lysosomal storage diseases with various forms of neuronal inclusions (curvilinear, fingerprint, and granular deposits) depending upon the subtype
classified as type 1 (CLN1) through type 10 (CLN10) and range from infantile to adolescent and adult onset
progressive disorders with dementia, vision loss, pyramidal and extrapyramidal dysfunctions, and seizures
genetic testing facilitates their diagnosis
pharmacoresistant, largely supportive and ultimately hospice

39
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - onset

A

may be in early childhood, but is frequently in adolescence or early adulthood

40
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - hippocampal sclerosis

A

pathologic finding of atrophy and gloss of the hippocampus as well as the amygdala, parahippocampal gyrus, and entorhinal cortex

41
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - MRI

A

high-resolution coronal T2-weighted for FLAIR sequences are very sensitive in detecting hippocampal sclerosis

42
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - etiology

A

may be unilateral or bilateral

associated with a history of prior febrile status epilepticus

43
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - symptoms

A

preceded by autonomic or abdominal aurora, such as deja vu or jamais vu, fear, rising epigastric sensations, or experiencing bad odors or tastest

44
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - seizure symptomology

A

behavioral arrest with a vacant strength and impaired responsiveness with a duration of about 30 to 60 seconds
automatisms - lip smacking, swallowing, chewing, or picking or fidgety movements
- hand ipsilateral to the seizure focus may occur, especially when there is dystonic posturing of the upper extremity contralateral to the temporal lobe focus
presence of ‘ictal speech’ - patient has ability to speak during seizure, lateralizes the seizure focus to the non dominant (usually right) cerebral hemisphere
postictal nose wiping is done by hand ipsilateral to the focus
amnesia

45
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - interictal EEG

A

intermittent focal and even rhythmic temporal slowing as well as anterior temporal spike or sharp discharges
typical acts revels a nearly monomorphic rhythmic discharge in the 5 Hz to 9 Hz theta to α frequency range, maximally present at the anterior temporal region

46
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - treatment

A

relatively unlikely to respond to anti seizure medications
failure to respond to 2 appropriate trials of AEDs is defined as medical intractability and indicates candidacy for epilepsy surgery evaluation

47
Q

mesial temporal lobe epilepsy with hippocampal sclerosis - prognosis

A

seizure freedom is achievable in up to 90% of selected patients undergoing temporal lobectomy

48
Q

autosomal dominant partial/focal epilepsy with auditory features - onset

A

presents in the adolescent years

49
Q

autosomal dominant partial/focal epilepsy with auditory features - etiology

A

mutations of a non channel gene known as LGI1 (leucine-rich, glioma-inactivated 1) in about half of affected families

50
Q

autosomal dominant partial/focal epilepsy with auditory features - symptomology

A

simple auditory hallucinations, such as buzzing, clicking, or ringing sounds
when unilateral or when significantly lateralized, the localization is the contralateral temporal lobe
accompanying symptoms may be more complex auditory symptoms, such as ringing, singing, whistling, humming, or talking sounds as well as visual, autonomic, psychic, or olfactory phenomena

51
Q

autosomal dominant partial/focal epilepsy with auditory features - EEG

A

most likely to show intermittent midtemporal slowing or rare interictal temporal or temporooccipital discharges, and brain imaging is unrevealing

52
Q

autosomal dominant partial/focal epilepsy with auditory features - treatment

A

tends to be pharmacoresponsive

53
Q

autosomal dominant nocturnal frontal lobe epilepsy - onset

A

peak onset in early adolescence but with a range from age 1 year to early adulthood

54
Q

autosomal dominant nocturnal frontal lobe epilepsy - symptomology

A

typical of frontal lobe hyper motor seizures, with brief and often complex phenomena occurring in clusters during sleep
difficult to distinguish from parasomnias
kicking, bicycling, or flailing movements involving the lower or upper extremities
vocalizations may be prominent and signal the appearance of panic attacks

55
Q

autosomal dominant nocturnal frontal lobe epilepsy - imaging

A

normal as a rule

56
Q

autosomal dominant nocturnal frontal lobe epilepsy - EEG

A

interictal - often normal, rending diagnosis dependent on overnight video-EEG recordings to capture stereotypical behavior that may be associated with ictal activity

57
Q

autosomal dominant nocturnal frontal lobe epilepsy - etiology

A

autosomal dominant syndrome linked to genes of neuronal nicotinic acetylcholine receptor (CHRNA4, CHRNA2, CHRNB2) and more recently the KCNT1 potassium channel

58
Q

autosomal dominant nocturnal frontal lobe epilepsy - treatment

A

nighttime dosing of anti seizure medications that are usually effective for focal onset seizures (oxcarbazepine, lamotrigine) is practical management strategy
1/3 treated with poly pharmacy and remain refractory

Pediatric Neurology (10 decks)

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