What is epilepsy?
A tendency to recurrent unprovoked seizures
Present in 0.5% of population (~1 in 200 UK children)
What is a petit mal seizure?
This is now known as a FOCAL seizure. Occure in one part of the brain.
What is a grand mal seizure?
This is actually a TONIC-CLONIC siezure
May be preceded by a Prodrome (‘funny feeling/behaviour’ but no EEG changes) +/or an
Aura (simple partial seizure, with EEG changes)
Tonic Phase - Pt becomes rigid, may collapse if standing Don’t breathe - may become cyanosed
Clonic Phase - Arrhythmic jerking of body/limbs
Breathing is irregular, cyanosis may persist
Tongue biting & incontinence of urine may occur
May last several hours, seizures may recur during it
Todd’s Paralysis: rarely occurs - Temporary limb paralysis
What is Levetiracetam (Keppra)?
Levetiracetam (Lev-et-teer-rass-et-am) is a medicine which is used in myoclonic epilepsy, generalised epilepsy and partial epilepsy.
What is Lamotrigine?
This is an antiepileptic drug, often used in adolescent girls.
Side effects are: Rash and irritability
What is the lifetime prevalence of epilepsy?
5-10 people per 1000
Does a single seizure qualify as epilepsy?
No. At least two seizures - epilepsy is the continuing tendency to have such seizures.
How are seizures classified?
According to the localisation of seizure, and the aetiology. I.e. Generalise or Partial Further divided to Tonic-clonic, Absence Myoclonic (Generalised): Complex, simple, (partial)
What is the most common type of partial epilepsy?
Temporal lobe epilepsy (60%)
What are the differences between symptomatic and cryptogenic aetiologies of epilepsy?
Symptomatic - clear cause, i.e. brain tumour
Cryptogenic - Likely underlying cause, but not yet identified.
What are the differentials for epilepsy?
- Postural hypotension
- TIA (not v often)
- Non-Epileptic attacks
- Sleep disorders
Name some seizure "markers", useful if you don't have a history.
lateral tongue biting
What are the three P's of Syncope?
Posture - standing
Provocation - heat, venesection, micturition
Prodrome - Nausea, clammy, blurry vision, deafness, tinnitus
What are the red flags for cardiogenic syncope?
Other cardiac symptoms
FH of sudden death
If it occurs on exertion
FH of IHD
What is JME epilepsy?
Juvenile myoclonic epilepsy. A young person with an epileptic episode, and Myoclonic jerks.
A partial seizure with concomitant loss of consciousness is known as what?
A complex partial seizure
What are the three A's of temporal lobe (complex partial) seizure?
Aura - warning sign
- changes in taste/smell/hearing/sight
- rising sensation Arrest
- motor and speech Automation
- Manual or oro-facial (i.e. smacking lips) Post-Ictal confusion
In occipital lobe siezures, what do patients tend to see during aura?
Coloured balls of light
Week 232 What are the "clues" leading you to a diagnosis of a non-epileptic attack?
Awareness retained gradual onset Prolonged - up to a couple of hours! Frequent No response to AED Preceded by autonomic arousal Eyes closed and resist opening Back arching Biting tip of tongue
What mediates a non-epileptic attack?
They are psychologically mediated.
What % of diagnosed epilepsy patients actually have NEAD (non-epileptic attack disorder)?
About 20% actually suffer from Non-Epileptic attack disorder.
What are the indications for a LOC being a seizure?
- Sudden onset
- Lasts 1-5 minutes
- Common, rhythmic, synchronous jerks
- Tongue biting is common
- Prolonged recovery
How is "coma" defined?
Unaware of ext. stimuli (pain/verbal)
Level of consciousness/alertness Function of reticular activating system in pons and midbrain
Content of consciousness Awareness of self and surroundings
What can cause coma?
Sig. structural injury of the cerebral hemispheres Structural injury to the brainstem
Diffuse physiological brain dysfuntion Metabolic/endocrine dysfunction
What is locked-in syndrome?
De-efferented motor tracts
Blinking and vertical eye movements intact
Awareness and arousal retained
Can be mistaken for COMA.
What is a pyschogenic coma?
These can be confused with coma. Can be difficult to diagnose Need to exclude other causes Tests inc. face slap and tuning fork in nose!
What can cause cerebral hemisphere damage?
Blunt trauma - subdural haemorrhage
Aneurysm (Berry type can cause subarachnoid bleed) Meningitis
Mass Acute hydrocephalus
What can cause direct brain stem dysfunction?
- Bilateral thalamic lesions
- Basilar artery thrombosis
- Stroke in brain stem (usually major)
- Neck injury - can cause vertebral artery dissection - clots thrown off from this can cause brain stem stroke
- Brain stem tumour
What can cause diffuse physiological brain dysfunction?
- Global Hypoperfusion (hypoxic brain injury)
- Status epilepticus
- Drugs/toxins/poisons Alcohol
In a simple partial seizure, is there any loss of consciousness?
What is the initial management of coma?
- Improve oxygenation
- Intubate if necessary
- Correct hypotension and extreme hypertension
- Warm/cool as required
- EMPIRACALLY TREAT Glucose + Thiamine (hypogluc/wernickes) Naloxone/flumenazil if opiate/benzo overdose suspected Identify and treat underlying cause
A simple partial seizure presents as a ____ ____.
A stereotypical aura (can be very short, is usually "experienced")
How can you determine the depth of a coma?
GCS score or equivalent
You can't perform a reliable neuro assessment (in a coma patient) if... (there are several reasons!)
- If metabolically deranged
- If sedated
- If hypothermic
- If they have endocrine disturbance
What aspects should be included in the neurological assessment of a patient in a coma?
- Brain stem reflexes (pupil reaction and eye movement part. useful)
- Is there papilloedema?
- Is motor response asymetrical?
- Are there unilateral UMN signs?
- Is there meningism
- Are reflexes present? Brisk? Deranged?
What effect does cocaine/E/MDMA have on pupils?
Enlarged pupils! They get BIG BRO. Real big.
A single "blown pupil" is a sign of what?
Week 231 Roving eye movements suggest what?
That brainstem is intact
A good corneal response indicates what?
A good corneal response Indicates that there is integrity of brainstem.
What is the oculocephalic response?
Normal - eyes maintain fixation on a point whilst the head is turning.
If brain stem is damaged - eyes move with head.
NB May also be affected by drugs and anaesthetic agents.
Pontine lesions can cause what?
Bilateral small pupils (miosis)
A blown pupil is a sign of what?
CN 3 damage secondary to coning through tentorium and stretching/pressure on nerve.
Require URGENT neuro imaging.
Bilateral unresponsive pupils are often caused by what?
Drug abuse (recreational)
What are the brain stem reflexes?
Response to hypercapnia
"dolls eye test"
In patients in a coma, which investigations would you arrange?
- Routine bloods
- Toxicology screen
- Imaging CT/MRI/MRA:CTA (last only if basilar artery. thrombosis suspected)
If initial tests came back normal, what specialist tests could you use in patients with coma?
- Lumbar puncture - NB NOT WITH RAISED ICP (it can cause coning)
- If suspected meningism ALWAYS SCAN BEFORE LP
What is a persistent vegetative state?
Recovery of arousal but not awareness NO language or comprehension
Roving eye movements
Brainstem reflexes intact
Maintain respiration and circulation
May appear to have sleep-wake cycle.
What is the usual cause of coma in persistent vegetative state?
This progression is usually due to diffuse cortical or subcortical haemorrhage
What are the risk factors for persistent vegetative state?
- Length of time in coma
- More common in older patients
- Non-traumatic brain injuries
- May be transient or permanent
What is meant by the term minimally conscious state?
- Eye contact
- Semi purposeful/meaningful actions
- Can Track objects
- Probably more common than PVS, though severely disabled
What is the usual cause of locked in syndrome?
Pontine infarction due to damage/blockage of basilar artery.
What is a secondary generalised seizure?
A generalised seizure that has been preceded by one or both types of partial seizure.
Generalised seizures always involve the whole ___, and always produce complete/impaired ____ ____ __________.
They always involve the whole brain. And they always produce a complete or impaired loss of consciousness.
What are the brain stem death tests?
- Absent pupil response
- Absent corneal response
- Absent vestibulo-ocular reflex (dolls eyes)
- Absent cough
- Absent motor response to pain
- Absent resp response to hypercapnia
Give examples of autosomal dominant conditions.
- Huntingdon disease
- Neurofibromatosis 1 T
- Tuberous sclerosis Complex
- HMSN I
- Von Hippel Lindau Familial hypercholesterolaemia
- Long QT syndrome
- BRCA 1 + 2
- Marfan's syndrome
Depigmented patches, said to look like "ash leaves" are an indication of which condition? They also have periventricular calcification.
Tubosclerosis is caused by mutations in one of which two genes?
- Either TSC1 (codes for hamartin) or
- TSC2 (codes for tuberin) gene
- These code for cell growth - hence tumours in odd places!
What is meant by the term penetrance?
Proportion of individuals with a particular mutation who exhibit clinical symptoms..
A short seiezure, accompanied by no automatisms (like continuous blinking, or clenching of fists etc), that was precipitated by hyperventilation...patient described "not as having collapsed, but seeming to have impaired consciousness, not responding to stimuli during the event...." What type of seizure is this?
This is an absence seizure most likely, a form of generalised seizure.
- no automatisms
- hyperventilation prior to
- impaired consciousness
In genetics, What is meant by the term anticipation?
The tendency of some variable dominant conditions to become more severe or occur earlier in successive generations.
A CAG repeat blot with threshold 35 is the diagnostic (genetic) criteria for which autosomal dominant disease?
90% of patients with juvenile huntingdons have inherited their expanded triplet repeat sequence from which family member?
What is the mode of inheritance of Kennedy disease?
This is an X-linked recessive condition
- Males can get it more often - only have one X on chromosome
- Females need both copie to be faulty to get condition
Name some common autosomal recessive diseases.
- Tay Sachs
- Neuronal ceroid lipofuscinoses
- Mucopolysaccharidosis I-VII (except II)
A cherry red spot on the macula is classical in which AS recessive neurodegenerative disease?
Give some examples of x-linked conditions
- Fragile X syndrome
What are the clinical signs of muscular dystrophy?
- Poor posture
- Moving onto "toes"
What is exon skipping?
In molecular biology, exon skipping is a form of RNA splicing used to cause cells to “skip” over faulty or misaligned sections of genetic code, leading to a truncated but still functional protein despite the genetic mutation.
In duchennesm uscular dystrophy, the commonest abnormality is that ____ ____ is missing.
What is the impact of "mitochondrial transmission"?
If mother is affected,all children are affected.
If father affected, no children affected.
Give an example of mitochondrial diseases?
- hereditary optic neuropathy
- Kearns Sayres syndrome
What is meant by the term "epigenetics"?
The study of the system that turns genes on and off, and its influences.
Aicardi syndrome is a (rare) disease
(only occurring in girls), that is caused by what?
Skewed x inactivation
De novo deletion of 15q11-13 (PATERNALLY inherited) is the causative factor of which disease?
De novo deletion of 15q11-13 maternally inherited is the causative factor of which disease?
What is meant by the term "copy number variation"?
This is descriving the fact that "The number of copies of a gene or part of a gene varies from one individual to the next".
Huntingdons, DRPLA, Spinocerebellar ataxias and myotonic dystrophy are all transmitted how?
What is the most common type of genetic variation?
Single nucleotide polymorphism.
What is meant by the term "uniparental disomy"?
Both chromosomes of a pair originate from one parent.
What are myoclonic seizures?
Brief, arrhythmic, high-amplitude jerking movements
Last <1 second with no pre-warning & no post-ictal phase
BUT often cluster within a few minutes
May evolve into tonic-clonic seizures
Not followed by post-ictal phase
Classic EEG pattern
Fast, high amplitude spikes of >5 Hz
What are tonic seizures?
Sudden onset rigidity, often noticeable due to flexion/extension
Usually last several seconds
Often occur during sleep or when drowsy
What is West syndrome?
Infantile spasms. Onset is usually at 4-6 months of age.
What are the aetiology, features and treatment of West syndrome?
Associated with structural brain disorders (e.g. Sturge-Weber), perinatal asphyxia, hx of meningitis etc.
Salaam/Jackknife Spasms- Flexor spasms of head, trunk & limbs
Last 1-2s & occur in bursts of 20-30 spasms
Typically occur on waking, but may occur throughout the day
Regression in development -Adults typically have severe LDs
High amplitude ‘sharp’ waves on background of arrhythmic slow waves
- Given as IM injection
What is Lennox-Gastaut syndrome?
Onset at 1-4years of age
Often proceeded by infantile spasms
Children may have absences, atonic ‘drop’ attacks, or
Regression in development occurs
Slow (2Hz) spike & wave activity
Poor - tends to continue into adulthood. Adults ten
d to have severe LDs
Benign Rolandic Epilepsy
benign epilepsy of childhood
3-10 years, declining in frequency past 10. Pts usually seizure
free by 15
Facial sensory symptoms e.g.
numbness/tingling in face
- Th. partial
Spike & Wave
No treatment necessary
- Child will grow out of it
What are childhood absence seizures?
Onset at 4-12 years
Usually seizure free by adulthood
Seizures - Last <20 seconds
Child suddenly stops & stares into space - may twi
tch eye/hand etc.
Child able to continue interrupted conversation/ action
Can be induced by hyperventilation
3 Hz (i.e. fast) spike & wave activity - Classic
What is Juvenille Monoclonic epilepsy?
a.k.a. Myoclonic Epilepsy of Adolescence
Onset at 10-20 y.o., with Females >Males - 2:1 ratio
Family history of disease common
Brief Myoclonic Jerks, usually occurring in morning after waking
e.g. Throwing Cornflakes & milk out of cereal bowl
No developmental delay, responsive to treatmen
What are febrile convulsions?
These are NOT epilepsy. Usually just occur for short periods if the child has a fever.
They are generalised tonic clonic seizures.
Name two symptoms that are suggestive of true seizures.
Pupil dilation (Miosis)
What is the acute management of a Tonic-Clonic seizure?
Place pt into recovery position
If seizure persists for 5 minutes:
- Give IV Lorazepam if possible
- Give buccal midazolam or rectal diazepam if IV access not possible
Sodium valproate is the first line treatment for what?
- All generalised seizures and some partials.
- Side effects include < apetite and weight gain, hair loss and liver failure.
Carbamazapine is the first line treatment for what?
- Partial seizures
- SE include lupus, dizziness and visual disturbances.
Which antixonvulsant could you give to teenage girls?
Which two epilepsy medications are contraindicated in pregnancy?
Valproate, and Carbamazepine cause neural tube defects.
After a one-off siezure, how long must patients no drive for?
After more than one siezure, how long must aptients not drive for?
At least one year seizure free before allowed to drive.
6 months after med change
OK to drive if last 3 years all seizures have been whilst asleep.
What is Catamenial epilepsy?
EPilepsy that is influenced by hormones (in women)
Spatial memory is a function of which part of the brain?
The fear response is related to which part of the brain?
List some personality traits of patients with temporal lobe epilepsy
- Emotional viscosity
- mood swings
- hyper religosity
27 year old woman with an episode of loss of consciousness while standing on the bus, preceded by nausea and sweating. Witnesses report some limb jerks with rapid recovery. What is the most likely diagnosis?
70 year old lady with a background of ischaemic heart disease and cerebrovascular disease felt disorientated and exhausted on waking one morning. Her husband reports being woken in the night by a loud noise and described rhythmic jerking movements of all 4 limbs. Her lips turned blue and she bit the side of her tongue. She was not incontinent of urine. What is the most likely diagnosis?
This is most likely a generalised tonic clonic seizure
Bit SIDE of tongue
65 year old man with a sudden onset of collapse while hill walking. There was brief loss of consciousness with rapid recovery. He has a past history of type 2 diabetes, depression and ischaemic heart disease. What is the most likely diagnosis?
Happened during exhertion
21 year old lady with recurrent attacks
consisting of abnormal movements of
all 4 limbs. The attacks vary in
description and can last up to an hour.
She has a past history of asthma and
irritable bowel syndrome.
What is the most likely diagnosis?
This is most likely a non-epileptic attack
Non rhythmical movements of limbs
18 year old man with a new onset of
stereotyped attacks preceded by an
unpleasant smell, an odd sensation in
his stomach and a feeling of fear and
anxiety. Witnesses report how he loses
awareness, fiddles with his clothing
and smacks his lips.
What is the most likely diagnosis?
This is most likely a complex partial seizure
Partial - Prodrome sensations
Partial - not generalised symptoms, fear suggests focal around limbic system (?)
Complex - HE loses awareness - therefore impairment of consciousness
Autonomous behaviour (fiddles with clothing and smacks lips)
A 20 year old student is referred to a first seizure clinic following a generalised tonic clonic seizure while on a night out. Over previous months she has noticed some involuntary jerks of her arms, particularly in the morning.
What advice should you give to this patient?
Should advise to refrain from driving, and also advise that they contact the DVLA
Which of the anti -epileptic drugs is associated
with the greatest risk of
to an unborn child?
Which of the anti-epileptic drugs does not reduce
the efficacy of the oral
What is phenytoin?
This is an anticonvulsant drug anticonvulsant drug used primarily in the management of complex partial seizures and generalized tonic-clonic seizures.
What is the obvious abnormality in this image?
What is the name of this condition?
This is a cavernoma.
What is the name given to this condition?
Heterotopic gray matter (around the ventricles) - very epileptigenic
What is the abnormality in this image?
What is the name given to the condition shown here?