Epilepsy Syndromes Flashcards
(64 cards)
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
2
Q
CAE Genetics
A
Less often
Mutations in GABA - GABRG1, GABRA1
Think GLUT1 if onset <4 yo (10%)
3
Q
CAE Animal Models
A
ACUTE: Pentylenetetrazole (PTZ) Penicillin THIB, GBL CHRONIC: GARES, Wistar Albino
4
Q
CAE Tx
A
Ethosux > LTG, fewer SE vPA
5
Q
Epilepsy With Myoclonic Absences
Epidemiology
A
Mostly Boys
Onset 7yo
Family Hx
MRI usually diffuse atrophy (17%)
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
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
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.
9
Q
MAE
Genetics
Treatment
A
GLUT1 - 5%, SCN1A
Tx: VPA, LTG, ESM, TPM , LVT, Ketogenic diet
10
Q
LGS
Clinical Triad
A
- Multiple seizure types (tonic -esp nocturnal tonic), atonic, atypical absence, GTC, partial seizures
- slow spike and wave 1.5-2Hz, MISD,
- Cognitive decline
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%
12
Q
ESES
A
Def: Epileptiform discharges >85% of NREM sleep
Two Syndromes:
1. LKS
2. CSWS
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
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
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.
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
17
Q
JME
Genetics
A
FHx +40-50% Inheritance polygenic Gene mutation: -GABRA1 - GABA R on chrom 5q32 -CLCN2 - Cl channel, 5q34 EFHC1 - 6p12
18
Q
JME Treatment
A
VPA, LTG, TPM, LVT
19
Q
Epilepsy With GTCs Only
A
GTC upon awaekning
Sleep deprivaition trigger
FHx +Generalized Epilepsy, Photosensitivity
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
21
Q
PME
A
Lafora Disease MERRF NCL Sialidosis Uverricht-Lundborg disease Dentatorubral-pallidoluysian atrophy (DRPLA)
22
Q
Audtosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
Genetics
A
Neuronal nicotinic acetylcholine R subunits (CHRNA4, CHRNB2, CHRNA2)
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
24
Q
ADNFLE
EEG
A
EEG normal
Ictal EEG bifrontal discharges.
25
Familial Temporal Lobe Epilespy (AD w/ incomplete penetrance)
Types
1. Familial mesial temporal lobe epilepsy -/+ hippocampal sclerosis
2. Familal lateral temporal lobe epilepsy (ADPEAF)
26
FMTLE w/wo hippocampal sclerosis
| Clinical sx
Onset in adolescents or adulthood
| Aura - mesotemporal origin (psychic and autonomic sx)
27
FMTLE w/ hippocampal sclerosis
CPE with automatisms
Mean onset 10 yo
+FHx of asymptomatic MTS
Benign course
28
FMTLE with febrile seizures
Onset 10-20 years
Benign course
Beni
29
Familial Lateral Temporal Lobe Epilepsy (Autosomal Dominant Partial Epilepsy with Auditory Features)
ADPEAF
Focal seizures with prominent auditory aura 64%
Benign course
LGI1 mutation in 50% of families.
30
Familial Focal Epilepsy with Variable Foci
```
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
Reflex Epilepsies
Specific stimulus or event elicits seizures
Typical triggers: visual stimuli, startle,reading , tactile, music, drawin/praxis, bathing, thinking, math, descision making and gaming
32
Gelastic Seizures
Diencephalic seizures = result of
Hypothalamic hamartoma
Seizures usually drug resistant
33
Hypothalaamic hamartoma
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
Hypothalamic hamartoma
| Location
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
Benign Familial Neonatal Seizures (BFNS)
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
EIEE (Otahara Syndrome)
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
EME: Early Myoclonic Encephalopathy
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
EME EEG
```
multifocal spikes on slow background +/- periodic activity.
Burst suppression (only in sleep) vs EIEE (all the time)
```
39
Migrating Partial Seizures of Infancy
| Clinical
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
Migrating Partial seizures of Infancy
| EEG
Interictal: multifocal slowing --> disruption of sleep architecture.
Ictal EEG: multifocal seizures with migrates to different regions including rhythmical delta or sharp/spike waves.
41
Infantile Spasms
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
Myoclonic Epilepsy in Infancy (MEI)
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
MEI
| EEG + Tx
EEG generalized spike, polyspike lasting 1-3 seconds.
+/- Photosensitive
Tx: VPA, LEV, CZP
44
Benign Infantile Sz
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
EEG: MEI vs BIS vs IS
MEI: generalized d/c, normal background
Benign infantile seizures: normal EEG
IS: hysparrhythmia
46
Myoclonic Encephalopathy in Nonprogressive Disorders
1. Absence +myoclonic seizures
2. Alternating bilateral positive + negative myoclonic
3. Mild onset focal facial (then limb seizures)
47
Absence + Myoclonic Seizures
EEG: theta-delta or delta with spikes
Diagnosed within 1st year of life
Etiology: Genetic (Angelman, PWS, Retts)
Tx: ESM+VPA
48
Alternating bilateral positive + negative myoclonic
EEG: diffuse rhythmic slow spike-waves or multifocal spike waves or theta-delta
Clinical: dyskinetic movements, onset <6yo, intractable seizures, poor development
49
Mild onset with focal facial seizures
Onset: 7mo to 5 yo
EEG: GSW or bilateral continuous slow wave activity
Clinical: deterioration with pyramidal and extrapyramidal signs. Seizures intractable.
50
Febrile Seizures
Onset: 1mo to 5yo
Semiology: GTC
Incidence 3-5% population
Mean age of presentation 18mo (12-30mo)
51
Recurrence of Febrile seizures
~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
Factors that influence FS recurrence
1. Age (<1 year ) - doubles risk
2. FS in 1st degree relative,
3. Low grade fever at seizure onset
53
Risk Factors that influence developing Epilepsy after FS
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
GEFS+
FS after 6yo or occurrence of other seizure types
Mutations: SCN1A, SCN1B, GABRG2
Mutations only seen in 10-20% of GEFS+
55
Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy (SMEI)
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
Dravet's syndrome
EEG
Tx
EEG: Spike and slow wave or polyspike and wave
Tx: Avoid Na channel medication, avoid heat
57
BECTS
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
BECTS
| EEG + Tx
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
Panaiotopoulos Syndrome
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
Gastaut Syndrome (Late childhood onset occipital epilepsy)
```
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
Gastaut syndrome
| EEG
Interictal EEG: occipital spikes in sleep, but can be seen elsewhere.
62
Rassmusen
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
Rassmussens Treatmetn
Antiseizure meds - but refractory
IVIG, Steroids, Cyclophospha-mide
Hemispherectomy
Prognosis -> preop level of function
64
hemiconvulsions-hemiplegia epilepsy syndrome (HHES).
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.
