Ch 3 - Epilepsy

Question 1

Prior to 2010 classification as seizures was?

Answer 1

Generalized

• Absence, atypical absence, tonic, tonic clonic, clonic, myoclonic, atonic

Partial

• simple, complex, secondary generalized

Question 2

Atypical absence vs absence seizures

Answer 2

Atypicals are slower Hz than absence seizures, last longer, and are most common in developmental delayed patients.

LL AA DD

Question 3

Simple vs complex partial seizures

Answer 3

simple = patient is aware

complex = awareness is lost

Question 4

common example of simple partial seizure?

Answer 4

Aura

Question 5

Where do auditory/oflactory/visual auras technically come from?

Answer 5

Auditory = temporal

Olfactory = medial temporal

Visual = occipital

Question 6

Symptomatic vs idiopathic vs cryptogenic seizures?

Answer 6

Symptomatic = there is a known lesion causing sz

Idiopathic - presumed to be genetic, MRI is nl

Cryptogenic - thought to be symptomatic, but unknown

Question 7

Post 2010 classification of seizures?

Answer 7

Generalized, focal, or unknown

Focal = one hemisphere

Generalized = both

Question 8

Types of generalized seizures?

Answer 8

• Absence (normal, atypical)
• Tonic
• Tonic Clonic
• Clonic
• Myoclonic
• Atonic

Question 9

Infantile Spasms - features?

Answer 9

• usually in first 3-7mo old
• generalized tonic-myoclonic szs often called “Salaam” or Jacknife attacks

Question 10

Triad of Infantile spasms:

Answer 10

West Syndrome

• Hypsarrhythmia
• Infantile Spasms
• Developmental Delay

In the old West, when an infant seized, they all yelled ACTH and HID

Question 11

Describe EEG pattern in Infantile Spasms

Answer 11

Hypsarrhythmia

Chaotic high amplitude, asynchronous slow activity with multifocal spikes

Question 12

Treatment for infantile spasms? Second line?

Answer 12

ACTH

Topamax/Keppra

Question 13

Treatment found effective in infantile spasms patients with tuberous sclerosis?

Answer 13

Vigabatrin

Question 14

Triad of Lennox Gastaut Syndrome?

Answer 14

• At least 2 different seizure types
• EEG with 1.5-2.5 Hz spike and wave discharges
• Developmental delay

Lenox (expensive dish company) had the GREATEST sale: buy one seizure, get one free!

Question 15

Landau Kleffner Syndrome - features?

Answer 15

Also known as acquired epileptic aphasia

• epileptic condition associated with language disturbances usually at 3-7 years of age.
• patients develop word deafness, receptive>expressive aphasia (language disturbances).

Landau sounds like Lambeau (Packers Stadium), fans scream disturbing language and deafeningly loud!

Question 16

Landau-Kleffner Syndrome (acquired epileptic aphasia) -EEG features?

Answer 16

epileptiform discharges over the parietal and temporal regions

During sleep, can show ESES (electrical status epilepticus of sleep)

Question 17

Childhood Absence Epilepsy - features?

Answer 17

generalized epilepsy that starts at 4-8 yo with brief staring spells.

Question 18

Childhood Absence Epilepsy - EEG?

Answer 18

3 Hz spike and slow wave discharges

Question 19

Childhood Absence Epilepsy - treatment?

Answer 19

ethosuxamide is used for absence and is the best option

Question 20

What is the best choice for patients with absence and generalized tonic clonic seizures (2)?

Answer 20

VPA or LTG

Question 21

Juvenile Myoclonic Epilepsy - features?

Answer 21

• GTCs at 13-20 years of age
• typically myoclonic jerks (particularly in the AM) before the GTC
• worsened with sleep deprivation, alcohol, and light stim.

JME patients Jerk More with the 3 E’s

Ethanol

Elimination of Sleep

Electric light (photic stim)

Question 22

Juvenile Myoclonic Epilepsy - EEG?

Answer 22

3.5 - 4.5 Hz spike/polyspike and wave discharges

Question 23

Most common form of benign partial epilepsy in childhood?

Answer 23

BREC
Benign Rolandic Epilepsy of Childhood

Question 24

BREC - typical age? features?

Answer 24

4-12 yo

nocturnal GTCs or nocturnal partial seizures associated with drooling or speech arrest

Question 25

BREC - EEG pattern?

Answer 25

Centro-temporal spikes bilaterally that increase in sleep

Question 26

Frontal Lobe Epilepsy - semiology?

Answer 26

brief seizures, typically at night with rapid recovery. Can involve frenetic activity or pelvic thrusting

Question 27

Temporal Lobe Epilepsy - most common pathologic finding?

Answer 27

mesial temporal sclerosis/ Ammon's horn sclerosis

Question 28

Temporal lobe epilepsy - classic aura?

Answer 28

epigastric rising, followed by automatisms

Question 29

occipital lobe epilepsy - most common syndrome?

Answer 29

Early onset benign epilepsy of childhood wih occipital paroxysms

Question 30

Semiology of Panayiotopoulos Syndrome (Occipital lobe epilepsy )?

Answer 30

2-8 years old, usually at night and can be prolonged. Vomiting and tonic eye deviation are seen and can be followed by hemiclonic activity/secondary generalization

Question 31

Gastaut Type Occipital Lobe Epilepsy?

Answer 31

Late onset benign epilepsy of childhood with occipital paroxysms

Question 32

Semiology of Gastaut type of occipital lobe epilepsy?

Answer 32

consist of visual symptoms - hemianopia, blindness, hallucinations - can secondary generalize. Seizures can sometimes be triggered by light changes.

Question 33

Progressive Myoclonic Epilepsy - broad characteristics?

Answer 33

Typically consists of 1. Seizures - GTCs 2. myoclonic jerks 3. Neurological decline - particularly cerebellar/cognitive.

Question 34

4 types of Progressive Myoclonic Epilepsy?

Answer 34

SLUMiN it! Sialidoses Lafora Unverricht-Lundborg MERRF Neuronal Ceroid Lipofuscinoses

Question 35

Unverricht-Lundborg PME - due to a mutation in ?

Answer 35

Cystatin B on chromosome 21

Question 36

Unverricht-Lundborg PME - characteristics

Answer 36

stimulus sensitive myoclonic jerks intellect is intact, cerebellar deterioration is late

Question 37

Unverricht-Lundborg PME - diagnosis?

Answer 37

membrane bound vacuoles in eccrine sweat glands. (can also see high amplitude SSEPs)

Question 38

Lafora's Disease PME - due to a mutation in

Answer 38

Laforin and malin on chromosome 6q/6p

Question 39

Lafora's Disease PME - characteristics?

Answer 39

occipital seizures with visual hallucinations - progresses faster

Question 40

Lafora's Disease PME - diagnosis?

Answer 40

Lafora bodies in various tissues (particularly sweat glands) - polyglucosan containing inclusions

Question 41

Neuronal Ceroid Lipofuscinoses (NCL) - mutation

Answer 41

AR lysosomal storage diseases with accumulation of multiple lipopigment particles

Question 42

Neuronal Ceroid Lipofuscinoses (NCL) PME - characteristics?

Answer 42

vision loss

Question 43

Neuronal Ceroid Lipofuscinoses (NCL) PME - diagnosis

Answer 43

Electon microscopy on skin/rectal/conjunctival tissue shows 1. granular osmiphilic deposits 2. curvilinear bodies 3. fingerprint profiles 4. rectilinear complexes **NCL= Norweigan Cruise Lines taking FINGERPRINTS for security, then take your cash DEPOSITS into COMPLEX slot machines, then bathe your CURVILINEAR body in the sun, but don't get too much LIPOpigment from the sun or you could have VISION LOSS.**

Question 44

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) PME - mutation

Answer 44

maternally inherited mutation at position 8344 in mitochondrial genome

Question 45

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) PME - characteristics

Answer 45

myoclonic epilepsy sometimes with deafness, optic atrophy, lipomas, short stature, myopathy/neuropathy

Question 46

Myoclonic Epilepsy with Ragged Red Fibers (MERRF) PME - diagnosis? labs elevated?

Answer 46

lactate and pyruvate elevated ragged red fibers on muscle biopsy

Question 47

Sialidosis Type 1 - mutation

Answer 47

neuraminidase defect - which cleaves sialic acid from galactose

Question 48

Sialidosis Type 1 - characteristics

Answer 48

cherry red spots and cognitive deterioration

Question 49

Sialidosis Type 1 - diagnosis

Answer 49

sialyloligosaccharides in urine