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Epilepsy Board Study > Epilepsy Syndromes > Flashcards

Epilepsy Syndromes Flashcards

1
Q

Childhood Absence

EEG

A

Typical - behavioral arrest, staring +/- eye fluttering
>2.5Hz GSW >3 seconds
Atypical - less abrupt onset, longer, variable impairment
1.5-2.5Hz GSW

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2
Q

CAE Genetics

A

Less often
Mutations in GABA - GABRG1, GABRA1
Think GLUT1 if onset <4 yo (10%)

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3
Q

CAE Animal Models

A 
ACUTE:
Pentylenetetrazole (PTZ)
Penicillin
THIB, GBL
CHRONIC: GARES, Wistar Albino
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4
Q

CAE Tx

A

Ethosux > LTG, fewer SE vPA

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5
Q

Epilepsy With Myoclonic Absences

Epidemiology

A

Mostly Boys
Onset 7yo
Family Hx
MRI usually diffuse atrophy (17%)

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6
Q

Epilepsy with Myoclonic Absences
Semiology
EEG
Tx

A 
Semiology: myoclonic jerk involving arms 
10-60 seconds, usually upon awakening 
\+/-GTC, absence, drop sz
Ictal EEG: 3Hz GSW intermixed polyspikes
Tx: VPA, ethosuxmide
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7
Q

Myoclonic-atonic epilepsy (Doose Syndrome)

Clinical

A 
Onset 1-5yo
\+strong family history
Normal at onset 
Semiology: myoclonic + atonic, also with mixed generalized seizures
MRI normal
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8
Q

Dooses Syndrome EEG

A

Interictal: Bursts 2-3Hz gen spike, polypsike wave discharges, activated in sleep;
**4-7Hz theta activity over central and vertex regions specific findings
Ictal: single gen spike/polyspike discharges or 3-4Hz activity lasting 2-6 seconds.

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9
Q

MAE
Genetics
Treatment

A

GLUT1 - 5%, SCN1A

Tx: VPA, LTG, ESM, TPM , LVT, Ketogenic diet

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10
Q

LGS

Clinical Triad

A
  1. Multiple seizure types (tonic -esp nocturnal tonic), atonic, atypical absence, GTC, partial seizures
  2. slow spike and wave 1.5-2Hz, MISD,
  3. Cognitive decline
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11
Q

LGS

Clinical Hx

A

3-5 years onset
Infantile spasms preceed LGS 10-25 %
Etiology: structural/metabolic 70-78% (meningitis/encephalitis, dysplasia, hypoxia, TBI), unknown 22-30%
FHz 3-30%

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12
Q

ESES

A

Def: Epileptiform discharges >85% of NREM sleep
Two Syndromes:
1. LKS
2. CSWS

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13
Q

LKS

A 
Onset 3-10 years
Language regression with verbal auditory agnosia (word deafness, hearing normal)
Seizures 2/3
Associated with ADHD
MRI brain normal
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14
Q

CSWS

A

Global regression in cognition and behaviora
Most have seizures
Usually with identifiable pathology (migrational disorders, polymicrogyria, hydrocephalus, porencephaly, thalamic lesions)
Tx: VPA, ESM, BZD, IVIG, steroids, surgery

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15
Q

Juvenile Absence Epilesy

A

Less frequent absence seizures (one to few per day)
More frequently with GTCs 80%,
LOC, less severe
Onset 10-17years ol.

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16
Q

Juvenile Myoclonic Epilepsy

-Clinical

A

Onset 12-18yo
Seizures most upon awakening
Triggers: sleep deprivation, fatigue, stress, alcohol
Seizure type: myoclonic sz, GTC (80-95%) preceded by cluster of myoclonic, absence seizures

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17
Q

JME

Genetics

A 
FHx +40-50% 
Inheritance polygenic
Gene mutation: 
-GABRA1 - GABA R on chrom 5q32
-CLCN2 - Cl channel, 5q34
EFHC1 - 6p12
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18
Q

JME Treatment

A

VPA, LTG, TPM, LVT

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19
Q

Epilepsy With GTCs Only

A

GTC upon awaekning
Sleep deprivaition trigger
FHx +Generalized Epilepsy, Photosensitivity

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20
Q

Progressive Myoclonic Epilepsies

General

A

Group of epilepsy with severe myoclonic seizures, progressive neurologic deterioration (ataxia, dementia)

EEG: progressive slowing, GSW, MISD, photosensitivity at lower flash freqeuncies

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21
Q

PME

A 
Lafora Disease 
MERRF
NCL
Sialidosis
Uverricht-Lundborg disease
Dentatorubral-pallidoluysian atrophy (DRPLA)
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22
Q

Audtosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
Genetics

A

Neuronal nicotinic acetylcholine R subunits (CHRNA4, CHRNB2, CHRNA2)

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23
Q

ADNFLE

A 
Seizure onset in childhood
Mean age 11.7yo
Seizures persist into adulthood
Seizure semiology: sudent arousal from NREM sleep (stage II) with hyperkinetic tonic movements. May cluster. No LOC usually. 
Can have aura: sensory, psychic symptoms
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24
Q

ADNFLE

EEG

A

EEG normal

Ictal EEG bifrontal discharges.

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25
Q

Familial Temporal Lobe Epilespy (AD w/ incomplete penetrance)
Types

A
  1. Familial mesial temporal lobe epilepsy -/+ hippocampal sclerosis
  2. Familal lateral temporal lobe epilepsy (ADPEAF)
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26
Q

FMTLE w/wo hippocampal sclerosis

Clinical sx

A

Onset in adolescents or adulthood

Aura - mesotemporal origin (psychic and autonomic sx)

27
Q

FMTLE w/ hippocampal sclerosis

A

CPE with automatisms
Mean onset 10 yo
+FHx of asymptomatic MTS
Benign course

28
Q

FMTLE with febrile seizures

A

Onset 10-20 years
Benign course
Beni

29
Q

Familial Lateral Temporal Lobe Epilepsy (Autosomal Dominant Partial Epilepsy with Auditory Features)
ADPEAF

A

Focal seizures with prominent auditory aura 64%
Benign course
LGI1 mutation in 50% of families.

30
Q

Familial Focal Epilepsy with Variable Foci

A 
Seizures and EEG findings different in each affected family
Vs ADFLE
-less seizures
-Daytime seizures
-More secondary generalization
Rare clusters/auras
Temporal or occiptal seizure foci.
31
Q

Reflex Epilepsies

A

Specific stimulus or event elicits seizures
Typical triggers: visual stimuli, startle,reading , tactile, music, drawin/praxis, bathing, thinking, math, descision making and gaming

32
Q

Gelastic Seizures

A

Diencephalic seizures = result of
Hypothalamic hamartoma
Seizures usually drug resistant

33
Q

Hypothalaamic hamartoma

A

Development delay, epilepsy, behavioral d/o and central precocious puberty
Seizure:
- brief stereotyped mechanical laughter +/- mirth, no LOC, autonomic signs present
- Dacrystic seizures (Crying), tonic and atonic seizures

34
Q

Hypothalamic hamartoma

Location

A

Location: infundibular stalk and mamillary bodies
intrahypothalamic (attaches to hypothalamus), parahypothalmus (within the floor of 3rd ventricle)
Usually sporadic
associated with Pallister Hall syndrome (GLI3 mutation)
EEG: slow background, multifocal/focal and generalized IED
Ictal EEG: variable
Tx: Laser

35
Q

Benign Familial Neonatal Seizures (BFNS)

A

3rd day fits
KCNQ2/3 (chromosome 20 and 8)
Seizures: tonic posturing, apnea/cyanosis, autonomic signs, face/limb clonus 1-3 min
Tx: for 3-6 months

36
Q

EIEE (Otahara Syndrome)

A

Semiology: frequent tonic seizures in isolation/clusters,
Onset: first 3 months of life
Etiology: structural brain lesions, also genes - STXBP1, CDKL5, ARX, KCNQ2
High mortality
Prognosis: profound Neurodevelopmental deficits
Tx: resistant to treatment, usually controlled by school aged

37
Q

EME: Early Myoclonic Encephalopathy

A

Onset: First month of life
Semiology: Myoclonus in face and limbs, focal, tonic seizures > myoclonus resolves by weeks to months but focal seizures persist
Etiology: Metabolic disorders (glycine encephalopathy)
Prognosis: high risk of mortality, poor prognosis

38
Q

EME EEG

A 
multifocal spikes on slow background +/- periodic activity. 
Burst suppression (only in sleep) vs EIEE (all the time)
39
Q

Migrating Partial Seizures of Infancy

Clinical

A

Initally developmental normal –> then seizures start 1week and 7months
Semiology: sporadic focal motor seizures >prolonged and cluster
extrapyramidal signs and tone worsens over time.
Prognosis is poor

40
Q

Migrating Partial seizures of Infancy

EEG

A

Interictal: multifocal slowing –> disruption of sleep architecture.
Ictal EEG: multifocal seizures with migrates to different regions including rhythmical delta or sharp/spike waves.

41
Q

Infantile Spasms

A

Clinical: Clusters of flexor/extensor spasms
Onset 5 mo (4-8mo)
Etiologies: symptomatic (75-86%) or asymptomatic
-Genetic - ARX, STXBP1
-Metabolic, congenital infection, neonatal infection.
Prognosis: ID 75-90%
-Tx: ACTH, vigabatrin, ketogenic diet, zonisamide, vitamin B6

42
Q

Myoclonic Epilepsy in Infancy (MEI)

A

Onset: 4mo - 3 yo.
Semiology: axial or UE myoclonic jerks with head drops, trunk flexion or extension, LE rarely involved
Subgroup - reflex myoclonic seizures
Usually normal development

43
Q

MEI

EEG + Tx

A

EEG generalized spike, polyspike lasting 1-3 seconds.
+/- Photosensitive
Tx: VPA, LEV, CZP

44
Q

Benign Infantile Sz

A

Onset: 3-20 mo
Normal development
Familial Form: 4-7months onset, F>M, PRRT2, ASC1, SCNA2
Seizures: focal clonic seizures, +/- secondary generalization
Interictal EEG: normal
Ictal EEg: focal ictal onset, posterior or temporal

45
Q

EEG: MEI vs BIS vs IS

A

MEI: generalized d/c, normal background
Benign infantile seizures: normal EEG
IS: hysparrhythmia

46
Q

Myoclonic Encephalopathy in Nonprogressive Disorders

A
  1. Absence +myoclonic seizures
  2. Alternating bilateral positive + negative myoclonic
  3. Mild onset focal facial (then limb seizures)
47
Q

Absence + Myoclonic Seizures

A

EEG: theta-delta or delta with spikes
Diagnosed within 1st year of life
Etiology: Genetic (Angelman, PWS, Retts)
Tx: ESM+VPA

48
Q

Alternating bilateral positive + negative myoclonic

A

EEG: diffuse rhythmic slow spike-waves or multifocal spike waves or theta-delta
Clinical: dyskinetic movements, onset <6yo, intractable seizures, poor development

49
Q

Mild onset with focal facial seizures

A

Onset: 7mo to 5 yo
EEG: GSW or bilateral continuous slow wave activity
Clinical: deterioration with pyramidal and extrapyramidal signs. Seizures intractable.

50
Q

Febrile Seizures

A

Onset: 1mo to 5yo
Semiology: GTC
Incidence 3-5% population
Mean age of presentation 18mo (12-30mo)

51
Q

Recurrence of Febrile seizures

A

~33% will have second FS
1/2 of those will have a 3rd (7-30%)
~50% recur in the 1st 6mo, 75-90% recur in the 1st year

52
Q

Factors that influence FS recurrence

A
  1. Age (<1 year ) - doubles risk
  2. FS in 1st degree relative,
  3. Low grade fever at seizure onset
53
Q

Risk Factors that influence developing Epilepsy after FS

A
  1. Positive family history of epilepsy
  2. Abnormal development
  3. Complex febrile seizure
  4. Postictal Todds
  5. # of febrile seizures (mores seizures = greater risk)
  6. Duration of febrile seizures (longer seizures = greater seizure)
54
Q

GEFS+

A

FS after 6yo or occurrence of other seizure types
Mutations: SCN1A, SCN1B, GABRG2
Mutations only seen in 10-20% of GEFS+

55
Q

Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy (SMEI)

A

Clinical: Prolonged FS in 1st year of life, seizure free period > followed by myoclonic seizures at 1-4 years .
Development normal > deteriorates
Mutations 70-80% have mutations in SCN1A
Genetic testing recommended

56
Q

Dravet’s syndrome
EEG
Tx

A

EEG: Spike and slow wave or polyspike and wave
Tx: Avoid Na channel medication, avoid heat

57
Q

BECTS

A

Common Focal Epilepsy in childhood
Onset 2-14 yo
Semiology: sensory symptoms, in tongue, lips, gums, cheek, drooling, motor symptoms tongue/larynx/pharynx
Seizures usually in sleep (1st part of night)
Prognosis: Usually outgrown by 16

58
Q

BECTS

EEG + Tx

A

Spikes centrotemporal , parietal regions
Increased in drowsiness/sleep.
Slowing after spikes = harder to control
Tx: Usually not indicated, but if treating - CBZ, OXC, LEV, VPA, GPN, Sulthiame

59
Q

Panaiotopoulos Syndrome

A

Peak onset 3-6yo
Seizures: Behavioral agitation, headache, autonomic symptoms, motor (hemiclonic/GTC)
Tend to be prolonged
Autonomic symptoms: vomting pallor, cyanosis
EEG: occipital spikes in sleep
85% of pts have <5 seizures
2/3 are out of sleep.

60
Q

Gastaut Syndrome (Late childhood onset occipital epilepsy)

A 
Peak onset 8-11 yo 
Semiology: Elementary visual auras + partial vision loss or focal seizures, frequently associated HA 
*Autonomic features are not prominent 
Frequent seizures, but duration shorter
Daytime seizures common
61
Q

Gastaut syndrome

EEG

A

Interictal EEG: occipital spikes in sleep, but can be seen elsewhere.

62
Q

Rassmusen

A

Onset 3-14 years
Normal development prior to onset of seizures
+/- febrile illness prior to first seizure

Diagnostic Criteria: (all three criteria in A or 2/3 in part B)
Part A:
1. Clinical: Focal seizures (+/- EPC) unilateral cortical deficits
2. EEG: unihemispheric slowing +/- IED, and unilateral seizure onset
3. MRI: Unihemispheric focal cortical atrophy and
-Gray or white matter T2/FLAIR hyperintensity
-Hyperintense signal/atrophy of ipsilateral caudate head
Part B :
1. Clinical: EPC or progressive unilateral cortical deficits
2. MRI: progressive unihemispheric focal atrophy
3. Histopath: T cell dominated encephalities w/ activated microlgial cells

63
Q

Rassmussens Treatmetn

A

Antiseizure meds - but refractory
IVIG, Steroids, Cyclophospha-mide
Hemispherectomy
Prognosis -> preop level of function

64
Q

hemiconvulsions-hemiplegia epilepsy syndrome (HHES).

A

Usually hx of febrile seizure

Onset in early childhood (5 months to 4 years) of prolonged hemiconvulsions followed by ipsilateral hemiplegia lasting more than 7 days.

In 80% of patients, the hemiplegia becomes permanent.

Epilepsy Board Study (8 decks)

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