Common Epilepsy Syndromes Gerber-Gore 1 21 09

7/21/2019 Common Epilepsy Syndromes Gerber-Gore 1 21 09

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Common Epilepsy Syndromes

Encountered in Everyday Practice

Paula Gerber, M.D.

Grand Rounds

Providence Portland Medical Center

January 21, 2009


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Objectives

Review epidemiology of seizures andepilepsy

Review seizure and epilepsy terminology Review three common epilepsy syndromes

and their typical presentations

Mesial temporal lobe epilepsyIdiopathic generalized epilepsy

*Psychogenic non-epileptic seizures*


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Epidemiology

~10 % of people will have a seizure some

time in their life

~0.5-1% of the population has epilepsy

Defined as 2 or more unprovokedseizures

Partial-onset ~60%

Generalized-onset ~40%


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Classification of Seizures

Generalized

Partial

Simple

Complex


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A word about absence

seizures Absence seizures are seen in specific,

childhood and adolescent-onset epilepsy

syndromes

Petit mal seizure=absence seizure

Typically very brief staring spell,


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Partial seizures

Simple partial seizure=aura

Depends on the cortical area from which it

arises Neocortex: somatosensory and motor symptoms

Limbic structures: rising epigastric sensation, smell,taste, fear, dj vu, jamais vu

Can be sensory or motor Motor can be tonic or clonic

Consciousness ispreserved


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Partial seizures

Complex partial seizure

Again, depends on the cortical area from which

it arisesConsciousness is impaired

This can sometimes only be manifest as amnesia forthe event

Can have aura (simple partial seizure) thatevolves into complex partial seizure

Can have secondarily generalized convulsions


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Classification of Epilepsy

Generalized vs. Localization-related

Idiopathic, Symptomatic, or Cryptogenic

Idiopathic: idio=ones ownpath=disease

Translation: genetic mutation

Symptomatic: from a known cerebral insult or

degenerative processCryptogenic: presumed symptomatic, but no

evidence of an insult can be found


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Case #1

23 yo LH male presents to establish care.

PMH: Epilepsy beginning in adolescence.

He reports a history of febrile seizures as an

infant, but then remained seizure free until

the age of 13, when he began having

recurrent seizures. I have big ones and little ones.


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Case #1 cont.

Little ones: a sensation of dj vu, followed by

spacing out. Family reports lip smacking,

staring, and fumbling with hands. Afterward, he isconfused and does not recall what happened. The

episodes last ~1 minute and occur 3-4 times per

week.

Big ones: a few times per year, he has the abovesymptoms followed by a generalized convulsion.


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Case #1 cont.

Medications: oxcarbazepine (Trileptal) and

lamotrigine (Lamictal)

Past medications: phenytoin (Dilantin),

carbamazepine (Tegretol), valproate

(Depakote)


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Case #1 cont.

SHx: The patient works as a checker at WalMart,

but he is in danger of losing his job due to

frequent seizures at work. He is unable to drive.He performed poorly in school and reports

difficulty with concentration and memory. He is

single and lives with his parents.

FHx: Uncle had seizures; pt does not know details.


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Case #1 cont.

Exam shows slight flattening of R

nasolabial fold and subtle reduced finger

tapping on the R


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VIDEO


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Mesial Temporal Lobe Epilepsy

AKA: temporal lobe epilepsy, psychomotor

epilepsy

Most commonly caused by mesial temporalsclerosis or hippocampal sclerosis

Other causes: neoplasm, vascular

malformation, cortical malformations


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Mesial Temporal Sclerosis

Most common cause of MTLE (estimated ~70%

of cases)

Risk factors: febrile seizures, perinatal insult, CNSinfection, head trauma

Typically early insult +/- febrile seizures, followed

by latent period, then refractory seizures develop

in late childhood or adolescence

Is it the cause or the effect of seizures?


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Mesial Temporal Sclerosis:

Pathology MRI shows a small, bright hippocampus

with disrupted internal architecture

Pathology shows loss of cells mostprominently in the CA1 region of thehippocampus

Cell loss also occurs outside thehippocampus, hence the broader termmesial temporal sclerosis


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Mesial Temporal Sclerosis

EEG shows anterior and mid-temporal

spikes and intermittent temporal slowing


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Kuzniecky R and Devinsky O(2007) Surgery Insight: surgical management of epilepsyNat Clin Pract Neurol 3:673

681 10.1038/ncpneuro0663

Figure 1 Surgery for temporal lobe epilepsy


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typical seizure Aura: rising epigastric sensation, also taste, smell,

nausea, fear, dj vu, jamais vu

Staring, widened eyes, dilated pupils Lip smacking, chewing

Ipsilateral automatisms

Contralateral dystonic posturing

Postictal nose wiping

Patient may speak during the episode, but isamnestic to the event afterward


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typical seizureAutonomic signs and symptoms:

Abdominal sensationsApneaArrhythmias/bradyarrhythmiasChest pain

CyanosisErythemaFlushingGenital sensations/orgasmHyperventilationLacrimationMiosis/mydriasis/hippus

PalpitationsPerspirationPilomotor excitationTachycardiaUrinary urgency/incontinenceVomiting

From Jerome Engel Jr., MD, PhD, Timothy A. Pedley MD, eds.Epilepsy: A Comprehensive Textbook.


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Mesial temporal lobe epilepsy:

the BAD news Typically refractory to medications

Seizures are frequent and debilitating,

interfering with ability to drive, work,maintain relationships

Some patients develop significant post-ictalagitation and even psychosis

Memory and cognitive problems developover time


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The grim news about medications

Kwan and Brodie (2000):

525 new-onset epilepsy patients followed over 13

years 47% patients responded to 1stdrug

14% responded to a second or third drug

3% responded to combination therapy

Overall, 63% of patients were controlled with

medication

That means 37% of patients were refractory!


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More grim news

AEDs have significant side effects:

Bone loss with phenytoin, carbamazepine, valproate

Hematologic, dermatologic and hepatic toxicity Birth defects (especially valproate)

Renal stones: topiramate, zonisamide

Cerebellar degeneration, peripheral neuropathy, gum

hyperplasia with phenytoin Somnolence, ataxia, weight gain/loss, tremor: many


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the GOOD news MTLE can be successfully treated with

surgery

The prototypical syndrome for surgicaltreatment of epilepsy


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the GOOD news Anterior temporal lobectomy or selective

amygdalohippocampectomy have been

shown to be effective, with seizure freedomrates of 60-80%

Bottom line: after failure of 2-3

medications, these patients should beevaluated for possible surgery


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Mesial Temporal Lobe Epilepsy

Dont let these patients slip through the

cracks!


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Case #2

16 yo male presents to ED with new

generalized tonic-clonic seizure that

occurred while playing his new NintendoWii. On questioning, admits to having had

some alcohol at the prom the night before.

Also, he has been sleep-deprived, up latestudying for finals.


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Case #2 cont.

Normal birth and development.

Meds: none

FH: A cousin had petite mal seizures as achild, but grew out of them.

Exam: Normal.

ROS: Sometimes has jerks, especially inthe morning, which cause him to dropthings. He thought he was just clumsy.


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VIDEO--GTC


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Video-absence


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Idiopathic Generalized Epilepsy

Syndrome of generalized tonic-clonic,

myoclonic, and absence seizures=Juvenile

Myoclonic Epilepsy IGE also includes:

Childhood and Juvenile Absence Epilepsies,

Epilepsy with Generalized tonic-clonicseizures only

GEFS+


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Idiopathic generalized epilepsy

Typically childhood or adolescent onset, butpatients can present in young adulthood

Seizures are sensitive to alcohol use, sleepdeprivation, +/- photic stimulation

Patients are otherwise NORMAL

Exam and MRI are NORMAL EEG shows generalized spike and wave

with a normal background


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Idiopathic Generalized Epilepsy

Caused by genetic mutations in ion

channels

Many genes and inheritance patterns havebeen identified

Most likely IGE is a spectrum of

phenotypes caused by many differentgenotypes


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Idiopathic generalized epilepsy

Important clinical pearl: phenytoin andcarbamazepine are CONTRAINDICATED

and may make seizures worse Other meds that are considered to be

contraindicated are: oxcarbazepine,gabapentin, tiagabine, vigabatrin

Appropriate: Valproate, lamotrigine,topiramate, zonisamide, levetiracetam


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Case #3

26 yo woman presents with new onset

seizures x 6 months.

She describes multiple events:1) headache and tingly all over

2) Shaking of arms and unresponsive

3) flop around like a fish


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Case #3 cont.

Events can last from 30 minutes to several

hours, with a waxing and waning character

PMH: migraine headaches, fibromyalgia,irritable bowel syndrome, depression

SH: Reports history of physical abuse by

stepfather as a child and more recently byex-husband.


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Case #3 cont.

Meds: Trileptal, Depakote, Lamictal,

Zoloft, Cymbalta, Flexeril, Percocet

ROS: C/o excessive fatigue, back and headpain, memory and concentration problems,

depressed mood, panic attacks


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VIDEO


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Psychogenic Non-epileptic Seizures

Formerly known as pseudoseizures

I prefer non-epileptic events

5-20% of seizures in outpatients 10-40% of seizures in inpatient monitoring units

History of previous abuse is common, as is a

history of psychiatric disease and chronicpain/fatigue syndromes

Female>male


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Distinguishing features:

Non-stereotyped

Long duration

Precipitated by stress or pain

Pelvic thrusting

Eye closure Pseudo-catastrophic presentation with very

frequent events, multiple ER visits


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Eye closure: Chung et al (2006):

234 consecutive EMU patients

938 ictal events Eye closure had positive predictive value of 94% for

PNES

Sensitivity of 96.2% and specificity of 98.1%

Caveats: episodes without altered consciousness orsignificant motor activity (unpublished observation)

Also helpful for non-epileptic, physiologic events (e.g.syncope)


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Psychogenic Non-epileptic Events

Treatment: get off toxic AEDs! They areoften contributing to patients neurological

complaints. Be honest, address the problem, and refer

for psychiatric help

Bottom line: dont just keep adding AEDs,send these patients for monitoring toconfirm the dx


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QUESTIONS?

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Common Epilepsy Syndromes Gerber-Gore 1 21 09