Epilepsy Syndromes in Children - Adolescent Onset Flashcards
common epilepsies
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
juvenile absence epilepsy
absence syndrome having later onset than childhood absence epilepsy and without typical clustering
juvenile absence epilepsy - age of onset
peaks at 15 years, with range of 10 to 19 years
juvenile absence epilepsy - symptoms
more sporadic and somewhat longer
automatisms, speech arrest, and loss of awareness are frequently seen
juvenile absence epilepsy - EEG
paroxysms of generalized 3 to 4 Hz spike- or polyspike-and-wave activity
juvenile absence epilepsy - triggers
sleep deprivation, alcohol, and hyperventilation
juvenile absence epilepsy - seizure types
myoclonic and generalized tonic-clonic seizes may occur, but are less prominent than in JME
juvenile absence epilepsy - treatment
respond to ethosuximide
broader spectrum agents (valproate or lamotrigine) useful if additional seizure types occur
generally pharmacoresponsive
juvenile absence epilepsy - medications to avoid
exacerbate absence seizures
phenytoin, carbamazepine, gabapentin, pregabalin, and vigabatrin
juvenile absence epilepsy - valproate side effects
hepatopathy, pancreatitis, thrombocytopenia
risk of congenital malformations and early childhood cognitive effects if administered to women during the first trimester of pregnancy
juvenile absence epilepsy - prognosis
achieve seizure control, but a lifelong requirement of medication is expected
juvenile myoclonic epilepsy - onset
between 12 and 18 years of age
juvenile myoclonic epilepsy - clinical features
myoclonic seizures predominantly involving the upper extremities, especially upon wakening
juvenile myoclonic epilepsy - seizure types
additionally develop generalized tonic-clonic seizures and at least one third will experience absence seizures
juvenile myoclonic epilepsy - EEG
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
juvenile myoclonic epilepsy - triggers
sleep deprivation, arousal, alcohol use, menses, and photic stimulation
juvenile myoclonic epilepsy - ictal EEG
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
juvenile myoclonic epilepsy - etiology
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
juvenile myoclonic epilepsy - prognosis
mixed - seizure freedom is achievable, but remission is not expected
vast majority relapse when taken off medications
juvenile myoclonic epilepsy - treatment
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
juvenile myoclonic epilepsy - meds to avoid
worsened by carbamazepine, oxcarbazepine, phenytoin, gabapentin, and vigabatrin
juvenile myoclonic epilepsy - prognostic factors
presence of generalized tonic-clonic seizures or EEG worsening during or following medication withdrawal are prognostic factors for higher risk of seizure recurrence
epilepsy with generalized tonic-clonic seizures alone - age of onset
typical age of 16 years with a range of 6 and 28 years
epilepsy with generalized tonic-clonic seizures alone - symptoms
designation of generalized tonic-clonic seizures upon awakening fits into this classification
occur within 1-2hrs of awakening and sometimes upon falling asleep
epilepsy with generalized tonic-clonic seizures alone - EEG
3 Hz to 4 Hz generalized spike-and-slow-wave paroxysms
epilepsy with generalized tonic-clonic seizures alone - triggers
sleep deprivation, photic stimulation, stress, and alcohol
epilepsy with generalized tonic-clonic seizures alone - symptoms
absence episodes can be documented, although they are not the predominant seizure type
epilepsy with generalized tonic-clonic seizures alone - treatment
pharmacoresponsive
epilepsy with generalized tonic-clonic seizures alone - prognosis
lifelong predisposition to seizures
progressive myoclonic epilepsies
constellation of disorders manifesting as myoclonus (cortical and subcortical) along with cognitive regression, usually with onset during adolescence
progressive myoclonic epilepsies - symptoms
GTCS can occur
challenge to distinguish from JME, especially at onset
progressive myoclonic epilepsies - vs. JME
associated ataxia often exists in progressive myoclonus epilepsies
progressive myoclonic epilepsies - etiology
most common are Unverricht-Lundborg disease (Baltic myoclonus disease), Lafora body disease, myoclonic epilepsy with ragged red fibers (MERRF), and neuronal ceroid lipofuscinosis
progressive myoclonic epilepsies - EEG
most frequently encountered is generalized spike- or polyspike-and-wave and a photoparoxysmal response
progressive myoclonic epilepsies - Unverricht-Lundborg disease
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
progressive myoclonic epilepsies - Lafora body disease
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
progressive myoclonic epilepsies - MERRF
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
progressive myoclonic epilepsies - neuronal ceroid lipofuscinosis
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
mesial temporal lobe epilepsy with hippocampal sclerosis - onset
may be in early childhood, but is frequently in adolescence or early adulthood
mesial temporal lobe epilepsy with hippocampal sclerosis - hippocampal sclerosis
pathologic finding of atrophy and gloss of the hippocampus as well as the amygdala, parahippocampal gyrus, and entorhinal cortex
mesial temporal lobe epilepsy with hippocampal sclerosis - MRI
high-resolution coronal T2-weighted for FLAIR sequences are very sensitive in detecting hippocampal sclerosis
mesial temporal lobe epilepsy with hippocampal sclerosis - etiology
may be unilateral or bilateral
associated with a history of prior febrile status epilepticus
mesial temporal lobe epilepsy with hippocampal sclerosis - symptoms
preceded by autonomic or abdominal aurora, such as deja vu or jamais vu, fear, rising epigastric sensations, or experiencing bad odors or tastest
mesial temporal lobe epilepsy with hippocampal sclerosis - seizure symptomology
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
mesial temporal lobe epilepsy with hippocampal sclerosis - interictal EEG
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
mesial temporal lobe epilepsy with hippocampal sclerosis - treatment
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
mesial temporal lobe epilepsy with hippocampal sclerosis - prognosis
seizure freedom is achievable in up to 90% of selected patients undergoing temporal lobectomy
autosomal dominant partial/focal epilepsy with auditory features - onset
presents in the adolescent years
autosomal dominant partial/focal epilepsy with auditory features - etiology
mutations of a non channel gene known as LGI1 (leucine-rich, glioma-inactivated 1) in about half of affected families
autosomal dominant partial/focal epilepsy with auditory features - symptomology
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
autosomal dominant partial/focal epilepsy with auditory features - EEG
most likely to show intermittent midtemporal slowing or rare interictal temporal or temporooccipital discharges, and brain imaging is unrevealing
autosomal dominant partial/focal epilepsy with auditory features - treatment
tends to be pharmacoresponsive
autosomal dominant nocturnal frontal lobe epilepsy - onset
peak onset in early adolescence but with a range from age 1 year to early adulthood
autosomal dominant nocturnal frontal lobe epilepsy - symptomology
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
autosomal dominant nocturnal frontal lobe epilepsy - imaging
normal as a rule
autosomal dominant nocturnal frontal lobe epilepsy - EEG
interictal - often normal, rending diagnosis dependent on overnight video-EEG recordings to capture stereotypical behavior that may be associated with ictal activity
autosomal dominant nocturnal frontal lobe epilepsy - etiology
autosomal dominant syndrome linked to genes of neuronal nicotinic acetylcholine receptor (CHRNA4, CHRNA2, CHRNB2) and more recently the KCNT1 potassium channel
autosomal dominant nocturnal frontal lobe epilepsy - treatment
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
