Epilepsy Syndromes in Children - Adolescent Onset

Question 1

common epilepsies

Answer 1

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

Question 2

juvenile absence epilepsy

Answer 2

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

Question 3

juvenile absence epilepsy - age of onset

Answer 3

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

Question 4

juvenile absence epilepsy - symptoms

Answer 4

more sporadic and somewhat longer

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

Question 5

juvenile absence epilepsy - EEG

Answer 5

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

Question 6

juvenile absence epilepsy - triggers

Answer 6

sleep deprivation, alcohol, and hyperventilation

Question 7

juvenile absence epilepsy - seizure types

Answer 7

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

Question 8

juvenile absence epilepsy - treatment

Answer 8

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

Question 9

juvenile absence epilepsy - medications to avoid

Answer 9

exacerbate absence seizures

phenytoin, carbamazepine, gabapentin, pregabalin, and vigabatrin

Question 10

juvenile absence epilepsy - valproate side effects

Answer 10

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

Question 11

juvenile absence epilepsy - prognosis

Answer 11

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

Question 12

juvenile myoclonic epilepsy - onset

Answer 12

between 12 and 18 years of age

Question 13

juvenile myoclonic epilepsy - clinical features

Answer 13

myoclonic seizures predominantly involving the upper extremities, especially upon wakening

Question 14

juvenile myoclonic epilepsy - seizure types

Answer 14

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

Question 15

juvenile myoclonic epilepsy - EEG

Answer 15

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

Question 16

juvenile myoclonic epilepsy - triggers

Answer 16

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

Question 17

juvenile myoclonic epilepsy - ictal EEG

Answer 17

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

Question 18

juvenile myoclonic epilepsy - etiology

Answer 18

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

Question 19

juvenile myoclonic epilepsy - prognosis

Answer 19

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

Question 20

juvenile myoclonic epilepsy - treatment

Answer 20

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

Question 21

juvenile myoclonic epilepsy - meds to avoid

Answer 21

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

Question 22

juvenile myoclonic epilepsy - prognostic factors

Answer 22

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

Question 23

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

Answer 23

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

Question 24

epilepsy with generalized tonic-clonic seizures alone - symptoms

Answer 24

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

Question 25

epilepsy with generalized tonic-clonic seizures alone - EEG

Answer 25

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

Question 26

epilepsy with generalized tonic-clonic seizures alone - triggers

Answer 26

sleep deprivation, photic stimulation, stress, and alcohol

Question 27

epilepsy with generalized tonic-clonic seizures alone - symptoms

Answer 27

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

Question 28

epilepsy with generalized tonic-clonic seizures alone - treatment

Answer 28

pharmacoresponsive

Question 29

epilepsy with generalized tonic-clonic seizures alone - prognosis

Answer 29

lifelong predisposition to seizures

Question 30

progressive myoclonic epilepsies

Answer 30

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

Question 31

progressive myoclonic epilepsies - symptoms

Answer 31

GTCS can occur | challenge to distinguish from JME, especially at onset

Question 32

progressive myoclonic epilepsies - vs. JME

Answer 32

associated ataxia often exists in progressive myoclonus epilepsies

Question 33

progressive myoclonic epilepsies - etiology

Answer 33

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

Question 34

progressive myoclonic epilepsies - EEG

Answer 34

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

Question 35

progressive myoclonic epilepsies - Unverricht-Lundborg disease

Answer 35

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

Question 36

progressive myoclonic epilepsies - Lafora body disease

Answer 36

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

Question 37

progressive myoclonic epilepsies - MERRF

Answer 37

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

Question 38

progressive myoclonic epilepsies - neuronal ceroid lipofuscinosis

Answer 38

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

Question 39

mesial temporal lobe epilepsy with hippocampal sclerosis - onset

Answer 39

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

Question 40

mesial temporal lobe epilepsy with hippocampal sclerosis - hippocampal sclerosis

Answer 40

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

Question 41

mesial temporal lobe epilepsy with hippocampal sclerosis - MRI

Answer 41

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

Question 42

mesial temporal lobe epilepsy with hippocampal sclerosis - etiology

Answer 42

may be unilateral or bilateral | associated with a history of prior febrile status epilepticus

Question 43

mesial temporal lobe epilepsy with hippocampal sclerosis - symptoms

Answer 43

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

Question 44

mesial temporal lobe epilepsy with hippocampal sclerosis - seizure symptomology

Answer 44

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

Question 45

mesial temporal lobe epilepsy with hippocampal sclerosis - interictal EEG

Answer 45

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

Question 46

mesial temporal lobe epilepsy with hippocampal sclerosis - treatment

Answer 46

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

Question 47

mesial temporal lobe epilepsy with hippocampal sclerosis - prognosis

Answer 47

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

Question 48

autosomal dominant partial/focal epilepsy with auditory features - onset

Answer 48

presents in the adolescent years

Question 49

autosomal dominant partial/focal epilepsy with auditory features - etiology

Answer 49

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

Question 50

autosomal dominant partial/focal epilepsy with auditory features - symptomology

Answer 50

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

Question 51

autosomal dominant partial/focal epilepsy with auditory features - EEG

Answer 51

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

Question 52

autosomal dominant partial/focal epilepsy with auditory features - treatment

Answer 52

tends to be pharmacoresponsive

Question 53

autosomal dominant nocturnal frontal lobe epilepsy - onset

Answer 53

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

Question 54

autosomal dominant nocturnal frontal lobe epilepsy - symptomology

Answer 54

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

Question 55

autosomal dominant nocturnal frontal lobe epilepsy - imaging

Answer 55

normal as a rule

Question 56

autosomal dominant nocturnal frontal lobe epilepsy - EEG

Answer 56

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

Question 57

autosomal dominant nocturnal frontal lobe epilepsy - etiology

Answer 57

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

Question 58

autosomal dominant nocturnal frontal lobe epilepsy - treatment

Answer 58

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