Epilepsy Buzz words in MCQ Flashcards
Automatisms
Temporal lobe epilepsy
3Hz spike and wave
absence epilepsy
4-6Hz polyspikes
Juvenile myoclonic epilepsy
Autoinduction of metabolism
Carbamazepine
Nephrolithiasis
Topiramate and zonisamide
Stevens-Johnson Syndrome
Lamotrigine
Hypsarrhythmia
infantile spasms
fencer’s posture
supplementary motor cortex
figure of 4 sign
supplementary motor cortex
Doose’s syndrome
myoclonic astatic epilepsy
Dravet’s syndrome
severe myoclonic epilepsy of infancy
ohtahara’s syndrome
early infantile epileptic encephalopathy
West’s syndrome
triad of infantile spasms, hypsarrhythmia, psychomotor delay or regression
Panaylotopoulos syndrome
occipital epilepsy with tonic eye deviation, ictal vomiting and visual seizures
Lennox-gastaut syndrome
Multiple seizure types, slow spike wave complexes and psychomotor delay or regression
Landau-Kleffner syndrome
Epilepsy with multiple seizure types and acquired aphasia
Nocturnal hypermotor seizures (non-REM)
Autosomal dominant nocturnal frontal lobe epilepsy
Gelastic seizures
Hypothalamic hamartoma
Head version
Contralateral frontal lobe
Dystonic posture during seizure
Contralateral temporal lobe
EPM1
Unverricht-Lundborg syndrome
Cystatin B
Unverricht-Lunborg syndrome
EPM2A
Lafora body disease
Progressive myoclonic epilepsy and cherry red spot
sialidosis
PME and mitochondrial disease
Myoclonic epilepsy with ragged red fibers
Antibodies to glutamate receptor 3
Rasmussen’s encephalitis
alpha rhythm
8-13
Beta rhythm
> 13
Theta rhythm
4-7
delta rhythm
<4
triphasic waves
metabolic encephalopathy
temporal periodic lateralized epileptiform discharges
structural abnormality - typically HSV encephalitis
K complex and sleep spindles
Stage 2 sleep
REMs and atonia
REM sleep
Apnea with no respiratory effort
Central sleep apnoea
Apnoea with respiratory effort
obstructive sleep apnea
Low hypocretin
narcolepsy with cataplexy
low ferritin
restless leg syndrome
REM sleep behaviour disorders
Alpha - synucleinopathies
Febrile seizures: what is the age incidence?
Uncommon before age 6 months and after age 6 years
Genetic basis for idiopathic epilepsies: what is the chromosome link for Benign familial neonatal convulsions, Benign familial infantile convulsions, Autosomal dominant nocturnal frontal lobe epilepsy
Partial epilepsy with auditory features
JME
Generalised epilepsy with febrile seizures plus?
Benign familial neonatal convulsions
8q; 20q
Benign familial infantile convulsions
19q
Autosomal-dominant nocturnal frontal lobe epilepsy (FLE) 20q
Partial epilepsy with auditory features 10q
Juvenile myoclonic epilepsy (JME) 6p
Generalized epilepsy with febrile seizures plus 19q; 2q
Febrile seizures 19p 8q
Describe a classic absence seizure
Primary generalised seizure of childhood
i. No aura or warning ii. Motionless with blank stare
iii. Short duration (usually < 10 seconds)
iv. If seizure prolonged, eyelid fluttering or other automatisms may occur
v. Little or no postictal confusion
vi. 70% of cases: precipitated by hyperventilation
vii. EEG: 3-Hz spike and wave
Atonic seizures: what are they associated with?
a. Typical in children with symptomatic or cryptogenic epilepsy syndromes, such as Lennox-Gastaut syndrome
b. Duration: tonic mean, 10 seconds; atonic, usually 1 to 2 seconds
Explain typical JME - genetic link? treatment?
Adolescent, tonic clonic, morning myoclonus, atypical absence, chromosome 6p
Myoclonic seizures
a. Brief, shock-like muscle contractions of head or extremities
b. Usually bilaterally symmetric but may be focal, regional, or generalized
c. Consciousness preserved unless progression into tonic-clonic seizure
d. Precipitated by sleep transition and photic stimulation
e. May be associated with a progressive neurologic deterioration
f. EEG: generalized polyspike-wave, spike-wave complexes
g. Subtypes of myoclonic epilepsy
Juvenile myoclonic epilepsy (JME)
(A) Onset is often late adolescence (12–16 y/o) with myoclonic events followed by tonic-clonic seizures; within a few years, myoclonic events are more common in the morning shortly after awakening.
(B) Genetically localized to chromosome 6p
(C) Most common seizure induced by photic stimulation; also precipitated
by alcohol intake and sleep deprivation
(D) May have severe seizures if missed AEDs
Treatment of choice is sodium valproate
What is Unverricht-Lundborg disease
Baltic myoclonus, progressive myoclonus and ataxia
Subtype of myoclonic epilepsy
Progressive myoclonic epilepsy
(A) Unverricht-Lundborg disease (Baltic myoclonus)
(1) Pathophysiology
(a) Mediterranean ancestry
(b) Autosomal recessive (AR)
(c) Genetic localization to chromosome 21q22.3, but may also occur sporadically
(d) Mutation is a dodecamer-repeat rather than a triplet-repeat disorder.
(e) Gene for cystatin B is the responsible gene.
(f) Two to 17 repeats is a normal finding, but more than 30
repeats is positive for this disease. (2) Clinical
(a) Relatively severe myoclonic-like events (b) Typically begin between 6 and 16 y/o (c) Progressive ataxia and dementia
(d) EEG: diffuse background slowing in the θ frequency with a 3- to 5-Hz polyspike and wave discharge; may also have sporadic focal spike and wave discharges
(e) Diagnosis is made by skin biopsy with a notation in sweat glands of vacuoles in one small series; pathology also demon- strates neuronal loss and gliosis of cerebellum, medial thala- mus, and spinal cord.
(f) Athena Diagnostics also has a lab test that is approximately 85% sensitive for genetic profile.
Lafora body disease?
Subtype of myoclonic epilepsy:
(1) Pathophysiology: AR; localized to chromosome 6q24 (2) Clinical
(a) Significant myoclonus
(b) Age of onset is adolescence (10–18 y/o).
(c) Tend not to have severe ataxia or myoclonus, but do have relatively severe dementia
(d) Death by early to mid-20s
(e) EEG demonstrates occipital spikes and seizures in approxi-
mately 50% of cases.
(f) Abnormal somatosensory-evoked potentials
(g) Diagnosis: skin biopsy reveals Lafora bodies (polyglucosan neuronal inclusions in neurons and in cells of eccrine sweat gland ducts).
(h) Prognosis is poor.
Neuronal ceroid lipofuscinosis - Santavuori disease, bielschowsky Jansky disease, spielmeyer vogt sjogren batten disease, kufs disease
Subtype of myoclonic epilepsy:
AR; defined by histology—by light microscope, neurons are engorged with peri- odic acid-Schiff–positive and autofluorescent material, and electron
microscopy demonstrates that ceroid and lipofuscin are noted in ab- normal cytosomes, such as curvilinear and fingerprint bodies that are diffusely distributed throughout the body (although only have CNS manifestations).
Infantile (Santavuori’s disease) - 8mnths
Late infantile (Bielschowsky-Jansky disease) - age 2-7
- usually death by 5 years old
Juvenile (Spielmeyer-Vogt-Sjögren-Batten disease) - - most common neurodegenerative disorder of childhood age 4-12 at onset - progressive vision loss, myoclonus, ataxia, dementia death in 20s
Kuf’s disease - adult onset - typically ages 11-34 - fingerprint profiles noted on skin biopsy
Myoclonic epilepsy with ragged red fibers - mitochonidrial disorder
ssential features: my- oclonic epilepsy, cerebellar dysfunction, myoclonus; other features: short stature, ataxia, dementia, lactic acidosis, weak- ness, and sensory deficits
(c) MRI/CT: leukoencephalopathy and cerebellar atrophy
(d) Diagnosis: muscle biopsy—ragged red fibers; genetic testing via Athena Diagnostics
Tay sachs and sandhoff disease?
Tay Sachs: type I GM2 gangliosidosis
AR, age 4-12 months
Deficit of hexosaminidase A causing developmental delay, cherry red spot on macula, startle seizure
Type II Sandhoff: GM2 gangliosidosis: AR age 4-12 months due to enzyme hexosaminidase A and B defect causing developmental delay, cherry red spot in macular, startly seizure
West syndrome:
Infantile spasms, hypsarrhythmia
a. Onset: age 3 months to 3 years
b. Prenatal causes are most common, including tuberous sclerosis (most com-
mon) and chromosomal abnormalities.
c. Truncal flexion, mental retardation, myoclonus
d. EEG: hypsarrhythmia
e. Treatment: adrenocorticotrophin hormone; vigabatrin is approved by the U.S. Food and Drug Administration (FDA) with black-box warning.
Aicardi’s syndrome
a. X-linkeddominant
b. Onset at birth with infantile spasms, hemiconvulsions, coloboma, chorioretinal lacunae, agenesis of corpus callosum, and vertebral anomalies
c. EEG:burstsofsynchronousslowwaves,spikewaves,andsharpwavesalternating with burst suppression
d. Treatment:adrenocorticotropichormone
Lennox Gastaut syndrome
Multiple seizure types, atonic, tonic, GTC
a. Onset: age 1–10 years
b. Multiple seizure types, particularly atonic seizures, developmental delay
c. EEG: slow spike-wave complex at 1.0 to 2.5 Hz (usually approximately 2 Hz), multifocal spikes and sharp waves, generalized paroxysmal fast activity
d. Treatment: lamotrigine, VA, vagal nerve stimulation
Benign rolandic epilepsy
Onset between ages 18 months and 13 years; typically spontaneously ends by
age 16 years
b. 40%: family history of epilepsy or febrile seizures
c. Accounts for 10% of all childhood epilepsies
d. Clinical: nocturnal seizures with somatosensory onset involving the tongue, lips, and gums followed by unilateral jerking that involves the face, tongue, pharynx, and larynx, causing speech arrest and drooling; no loss of awareness unless evolves into a secondary GTC seizure
e. EEG:centrotemporalspikes
f. Treatment: AEDs are typically unnecessary owing to isolated occurrence of sei- zures and overall cognitive effects of AEDs, but may be necessary if recurrent GTC seizures; CBZ is the treatment of choice, if necessary.
Rasmussen’s encephalitis
Frequent seizures,loss of motor skills, affects single hemisphere
- Rare, progressive neurologic disorder characterized by frequent and severe seizures, loss of motor skills and speech, hemiparesis (paralysis on one side of the body), encephalitis (inflammation of the brain), dementia, and mental deterioration
- Affects a single brain hemisphere; generally occurs in children less than 10 y/o
- Treatment
a. AEDs usually not effective in controlling the seizures
b. When seizures have not spontaneously remitted by the time hemiplegia and aphasia are complete, the standard treatment for Rasmussen’s encephalitis is hemispherectomy.
c. Alternativetreatmentsmayincludeplasmapheresis,IVimmunoglobulin,keto- genic diet, and steroids.
Which AEDs reduce OCP levels
Carbamazepine, phenytoin, phenobarbitol, topiramate (dose >200/day), oxcarbazepine, lamotrigine
levetiracetam, gabapentin, tiagabine, vigabatrin, zonisamide and topiramate have no effect
