Week 232 - Epilepsy Flashcards

0
Q

Week 232

What is a petit mal seizure?

A

This is now known as a FOCAL seizure. Occure in one part of the brain.

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1
Q

Week 232

What is epilepsy?

A

A tendency to recurrent unprovoked seizures
Present in 0.5% of population (~1 in 200 UK children)

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2
Q

Week 232

What is a grand mal seizure?

A

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

Post-Ictal Phase
May last several hours, seizures may recur during it

Todd’s Paralysis: rarely occurs - Temporary limb paralysis

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3
Q

Week 232

What is Levetiracetam (Keppra)?

A

Levetiracetam (Lev-et-teer-rass-et-am) is a medicine which is used in myoclonic epilepsy, generalised epilepsy and partial epilepsy.

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4
Q

Week 232

What is Lamotrigine?

A

This is an antiepileptic drug, often used in adolescent girls.

Side effects are: Rash and irritability

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5
Q

Week 232

What is the lifetime prevalence of epilepsy?

A

5-10 people per 1000

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6
Q

Week 232

Does a single seizure qualify as epilepsy?

A

No. At least two seizures - epilepsy is the continuing tendency to have such seizures.

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7
Q

Week 232

How are seizures classified?

A

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)

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8
Q

Week 232

What is the most common type of partial epilepsy?

A

Temporal lobe epilepsy (60%)

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9
Q

Week 232

What are the differences between symptomatic and cryptogenic aetiologies of epilepsy?

A

Symptomatic - clear cause, i.e. brain tumour

Cryptogenic - Likely underlying cause, but not yet identified.

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10
Q

Week 232

What are the differentials for epilepsy?

A
  • Syncope/vasp-Vagal
  • Postural hypotension
  • TIA (not v often)
  • Trauma
  • Non-Epileptic attacks
  • Sleep disorders
  • Hypoglycaemia
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11
Q

Week 232

Name some seizure “markers”, useful if you don’t have a history.

A

Stereotyped

lateral tongue biting

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12
Q

Week 232

What are the three P’s of Syncope?

A

Posture - standing

Provocation - heat, venesection, micturition

Prodrome - Nausea, clammy, blurry vision, deafness, tinnitus

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13
Q

Week 232

What are the red flags for cardiogenic syncope?

A

Other cardiac symptoms

FH of sudden death

If it occurs on exertion

Rapid recovery

FH of IHD

No warning

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14
Q

Week 232

What is JME epilepsy?

A

Juvenile myoclonic epilepsy. A young person with an epileptic episode, and Myoclonic jerks.

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15
Q

Week 232

A partial seizure with concomitant loss of consciousness is known as what?

A

A complex partial seizure

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16
Q

Week 232

What are the three A’s of temporal lobe (complex partial) seizure?

A

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
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17
Q

Week 232

In occipital lobe siezures, what do patients tend to see during aura?

A

Coloured balls of light

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18
Q

Week 232 What are the “clues” leading you to a diagnosis of a non-epileptic attack?

A

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

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19
Q

Week 232

What mediates a non-epileptic attack?

A

They are psychologically mediated.

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20
Q

Week 232

What % of diagnosed epilepsy patients actually have NEAD (non-epileptic attack disorder)?

A

About 20% actually suffer from Non-Epileptic attack disorder.

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21
Q

Week 232

What are the indications for a LOC being a seizure?

A
  • .Trigger
  • Sudden onset
  • Prodrome
  • Lasts 1-5 minutes
  • Common, rhythmic, synchronous jerks
  • Cyanosis
  • Tongue biting is common
  • Prolonged recovery
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22
Q

Week 231

How is “coma” defined?

A

Unrouseable

Unresponsive

Unaware of ext. stimuli (pain/verbal)

GCS low

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23
Q

Week 231

Define: Arousal

A

Level of consciousness/alertness Function of reticular activating system in pons and midbrain

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24
Q

Week 231

Define: Awareness

A

Content of consciousness Awareness of self and surroundings

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25
Q

Week 231

What can cause coma?

A

Sig. structural injury of the cerebral hemispheres Structural injury to the brainstem

Diffuse physiological brain dysfuntion Metabolic/endocrine dysfunction

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26
Q

Week 231

What is locked-in syndrome?

A

De-efferented motor tracts

Blinking and vertical eye movements intact

Awareness and arousal retained

Can be mistaken for COMA.

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27
Q

Week 231

What is a pyschogenic coma?

A

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!

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28
Q

Week 231

What can cause cerebral hemisphere damage?

A

Blunt trauma - subdural haemorrhage

Stroke

Infarction

Aneurysm (Berry type can cause subarachnoid bleed) Meningitis

Encephalitis

Mass Acute hydrocephalus

Hypoxic-ischaemic encephalopathy

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29
Q

Week 231

What can cause direct brain stem dysfunction?

A
  • 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
  • Coning
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30
Q

Week 231

What can cause diffuse physiological brain dysfunction?

A
  • Wernickes
  • Global Hypoperfusion (hypoxic brain injury)
  • Status epilepticus
  • Hypothermia
  • Drugs/toxins/poisons Alcohol
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31
Q

Week 231

In a simple partial seizure, is there any loss of consciousness?

A

No.

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32
Q

Week 231

What is the initial management of coma?

A
  • 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
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33
Q

Week 231

A simple partial seizure presents as a ____ ____.

A

A stereotypical aura (can be very short, is usually “experienced”)

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34
Q

Week 231

How can you determine the depth of a coma?

A

GCS score or equivalent

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35
Q

Week 231

You can’t perform a reliable neuro assessment (in a coma patient) if… (there are several reasons!)

A
  • If metabolically deranged
  • If sedated
  • If hypothermic
  • If they have endocrine disturbance
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36
Q

Week 231

What aspects should be included in the neurological assessment of a patient in a coma?

A
  • 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?
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37
Q

Week 231

What effect does cocaine/E/MDMA have on pupils?

A

Enlarged pupils! They get BIG BRO. Real big.

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38
Q

Week 231

A single “blown pupil” is a sign of what?

A

Impending doom!

Raised ICP.

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39
Q

Week 231 Roving eye movements suggest what?

A

That brainstem is intact

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40
Q

Week 231

A good corneal response indicates what?

A

A good corneal response Indicates that there is integrity of brainstem.

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41
Q

Week 231

What is the oculocephalic response?

A

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.

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42
Q

Week 231

Pontine lesions can cause what?

A

Bilateral small pupils (miosis)

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43
Q

Week 231

A blown pupil is a sign of what?

A

Impending dooooom.

CN 3 damage secondary to coning through tentorium and stretching/pressure on nerve.

Require URGENT neuro imaging.

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44
Q

Week 231

Bilateral unresponsive pupils are often caused by what?

A

Drug abuse (recreational)

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45
Q

Week 231

What are the brain stem reflexes?

A

Pupils

Corneal reflex

Gag reflex

Response to hypercapnia

“dolls eye test”

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46
Q

Week 231

In patients in a coma, which investigations would you arrange?

A
  • Routine bloods
  • Toxicology screen
  • Imaging CT/MRI/MRA:CTA (last only if basilar artery. thrombosis suspected)
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47
Q

Week 231

If initial tests came back normal, what specialist tests could you use in patients with coma?

A
  • EEG
  • Lumbar puncture - NB NOT WITH RAISED ICP (it can cause coning)
  • If suspected meningism ALWAYS SCAN BEFORE LP
48
Q

Week 231

What is a persistent vegetative state?

A

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.

49
Q

Week 231

What is the usual cause of coma in persistent vegetative state?

A

This progression is usually due to diffuse cortical or subcortical haemorrhage

50
Q

Week 231

What are the risk factors for persistent vegetative state?

A
  • Length of time in coma
  • More common in older patients
  • Non-traumatic brain injuries
  • May be transient or permanent
51
Q

Week 231

What is meant by the term minimally conscious state?

A
  • Eye contact
  • Semi purposeful/meaningful actions
  • Can Track objects
  • Probably more common than PVS, though severely disabled
52
Q

Week 231

What is the usual cause of locked in syndrome?

A

Pontine infarction due to damage/blockage of basilar artery.

53
Q

Week 231

What is a secondary generalised seizure?

A

A generalised seizure that has been preceded by one or both types of partial seizure.

54
Q

Week 231

Generalised seizures always involve the whole ___, and always produce complete/impaired ____ ____ __________.

A

They always involve the whole brain. And they always produce a complete or impaired loss of consciousness.

55
Q

Week 231

What are the brain stem death tests?

A
  • Absent pupil response
  • Absent corneal response
  • Absent vestibulo-ocular reflex (dolls eyes)
  • Absent cough
  • Absent motor response to pain
  • Absent resp response to hypercapnia
56
Q

Week 231

Give examples of autosomal dominant conditions.

A
  • Huntingdon disease
  • Neurofibromatosis 1 T
  • Tuberous sclerosis Complex
  • HMSN I
  • Von Hippel Lindau Familial hypercholesterolaemia
  • Long QT syndrome
  • BRCA 1 + 2
  • Achondroplasia
  • Marfan’s syndrome
57
Q

Week 231

Depigmented patches, said to look like “ash leaves” are an indication of which condition? They also have periventricular calcification.

A

Tuberous sclerosis

58
Q

Week 231

Tubosclerosis is caused by mutations in one of which two genes?

A
  • Either TSC1 (codes for hamartin) or
  • TSC2 (codes for tuberin) gene
  • These code for cell growth - hence tumours in odd places!
59
Q

Week 231

What is meant by the term penetrance?

A

Proportion of individuals with a particular mutation who exhibit clinical symptoms..

60
Q

Week 231

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?

A

This is an absence seizure most likely, a form of generalised seizure.

  • short
  • no automatisms
  • hyperventilation prior to
  • impaired consciousness
61
Q

Week 231

In genetics, What is meant by the term anticipation?

A

The tendency of some variable dominant conditions to become more severe or occur earlier in successive generations.

62
Q

Week 231

A CAG repeat blot with threshold 35 is the diagnostic (genetic) criteria for which autosomal dominant disease?

A

Huntindons

63
Q

Week 231

90% of patients with juvenile huntingdons have inherited their expanded triplet repeat sequence from which family member?

A

Father.

64
Q

Week 231

What is the mode of inheritance of Kennedy disease?

A

This is an X-linked recessive condition

This means:

  • Males can get it more often - only have one X on chromosome
  • Females need both copie to be faulty to get condition
65
Q

Week 231

Name some common autosomal recessive diseases.

A
  • Tay Sachs
  • Neuronal ceroid lipofuscinoses
  • Mucopolysaccharidosis I-VII (except II)
66
Q

Week 231

A cherry red spot on the macula is classical in which AS recessive neurodegenerative disease?

A

Tay Sachs

67
Q

Week 231

Give some examples of x-linked conditions

A
  • HAemophillia
  • Duchennes
  • Fragile X syndrome
68
Q

Week 231

What are the clinical signs of muscular dystrophy?

A
  • Lordosis
  • Poor posture
  • Moving onto “toes”
69
Q

Week 231

What is exon skipping?

A

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.

70
Q

Week 231

In duchennesm uscular dystrophy, the commonest abnormality is that ____ ____ is missing.

A

Exon 45.

71
Q

Week 231

What is the impact of “mitochondrial transmission”?

A

If mother is affected,all children are affected.

If father affected, no children affected.

72
Q

Week 231

Give an example of mitochondrial diseases?

A
  • Lebers
  • hereditary optic neuropathy
  • Kearns Sayres syndrome
73
Q

Week 231

What is meant by the term “epigenetics”?

A

The study of the system that turns genes on and off, and its influences.

74
Q

Week 231

Aicardi syndrome is a (rare) disease

(only occurring in girls), that is caused by what?

A

Skewed x inactivation

75
Q

Week 231

De novo deletion of 15q11-13 (PATERNALLY inherited) is the causative factor of which disease?

A

Prader willi

76
Q

Week 232

De novo deletion of 15q11-13 maternally inherited is the causative factor of which disease?

A

Angelman’s syndrome.

77
Q

Week 231

What is meant by the term “copy number variation”?

A

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”.

78
Q

Week 232

Huntingdons, DRPLA, Spinocerebellar ataxias and myotonic dystrophy are all transmitted how?

A

Autosomal dominant

79
Q

Week 232

What is the most common type of genetic variation?

A

Single nucleotide polymorphism.

80
Q

Week 232

What is meant by the term “uniparental disomy”?

A

Both chromosomes of a pair originate from one parent.

81
Q

Week 232

What are myoclonic seizures?

A

Brief, arrhythmic, high-amplitude jerking movements
o
Last <1 second with no pre-warning & no post-ictal phase
o
BUT often cluster within a few minutes

May evolve into tonic-clonic seizures
o
Not followed by post-ictal phase

Classic EEG pattern
o
Fast, high amplitude spikes of >5 Hz

82
Q

Week 231

What are tonic seizures?

A

Sudden onset rigidity, often noticeable due to flexion/extension
o
Usually last several seconds
o
Often occur during sleep or when drowsy

83
Q

Week 231

What is West syndrome?

A

Infantile spasms. Onset is usually at 4-6 months of age.

84
Q

Week 232

What are the aetiology, features and treatment of West syndrome?

A

Aetiology

Associated with structural brain disorders (e.g. Sturge-Weber), perinatal asphyxia, hx of meningitis etc.

Features

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

EEG

High amplitude ‘sharp’ waves on background of arrhythmic slow waves

Treatment

  • *ACTH
  • Given as IM injection**

Prednisolone

85
Q

Week 232

What is Lennox-Gastaut syndrome?

A

Onset at 1-4years of age
Often proceeded by infantile spasms

Features

Children may have absences, atonic ‘drop’ attacks, or
myoclonic jerks

Regression in development occurs

EEG

Slow (2Hz) spike & wave activity

Prognosis

Poor - tends to continue into adulthood. Adults ten
d to have severe LDs

86
Q

Week 231

What is
Benign Rolandic Epilepsy
Of Childhood
?

A

Most common
benign epilepsy of childhood
o
Onset at
3-10 years, declining in frequency past 10. Pts usually seizure
free by 15
o
Family history
common
-
Dominant
inheritance pattern
o
Features

Simple partial
seizures whilst
awake


Facial sensory symptoms e.g.
numbness/tingling in face

Preserved memory
- Th. partial

Generalised tonic-clonic
seizures whilst
asleep
o
EEG

Spike & Wave
activity in
Centro-Temporal Region
o
Treatment

No treatment necessary
- Child will grow out of it

87
Q

Week 232

What are childhood absence seizures?

A

Onset at 4-12 years
Usually seizure free by adulthood

Features

Brief Absence
Seizures - Last <20 seconds

Child suddenly stops & stares into space - may twi
tch eye/hand etc.

Child able to continue interrupted conversation/ action
afterwards

Can be induced by hyperventilation

EEG

3 Hz (i.e. fast) spike & wave activity - Classic

88
Q

Week 232

What is Juvenille Monoclonic epilepsy?

A

a.k.a. Myoclonic Epilepsy of Adolescence

Onset at 10-20 y.o., with Females >Males - 2:1 ratio

Family history of disease common

Features

Brief Myoclonic Jerks, usually occurring in morning after waking

e.g. Throwing Cornflakes & milk out of cereal bowl

No developmental delay, responsive to treatmen

89
Q

Week 232

What are febrile convulsions?

A

These are NOT epilepsy. Usually just occur for short periods if the child has a fever.

They are generalised tonic clonic seizures.

90
Q

Week 232

Name two symptoms that are suggestive of true seizures.

A

Pupil dilation (Miosis)

Peripheral cyanosis

91
Q

Week 232

What is the acute management of a Tonic-Clonic seizure?

A

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
92
Q

Week 232

Sodium valproate is the first line treatment for what?

A
  • All generalised seizures and some partials.
  • Side effects include < apetite and weight gain, hair loss and liver failure.
93
Q

Week 232

Carbamazapine is the first line treatment for what?

A
  • Partial seizures
  • SE include lupus, dizziness and visual disturbances.
94
Q

Week 232

Which antixonvulsant could you give to teenage girls?

A
95
Q

Week 232

Which two epilepsy medications are contraindicated in pregnancy?

A

Valproate, and Carbamazepine cause neural tube defects.

96
Q

Week 232

After a one-off siezure, how long must patients no drive for?

A

6 months

97
Q

Week 232

After more than one siezure, how long must aptients not drive for?

A

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.

98
Q
A
99
Q

Week 232

What is Catamenial epilepsy?

A

EPilepsy that is influenced by hormones (in women)

100
Q

Week 232

Spatial memory is a function of which part of the brain?

A

The Hippocampus

101
Q

Week 232

The fear response is related to which part of the brain?

A

The Amygdala

102
Q

Week 232

List some personality traits of patients with temporal lobe epilepsy

A
  • Hypergraphia
  • Hyposexuality
  • Emotional viscosity
  • mood swings
  • hyper religosity
    *
103
Q

Week 232

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?

A

Vaso-Vagal Syncope

104
Q

Week 232

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?

A

This is most likely a generalised tonic clonic seizure

Why?

Rhythmic

Bit SIDE of tongue

Cyanosis

105
Q

Week 232

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?

A

Cardiac syncope

Why?

IHD

Happened during exhertion

Rapid recovery

106
Q

Week 232

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?

A

This is most likely a non-epileptic attack

Why?

Young female

Non rhythmical movements of limbs

Long duration

107
Q

Week 232

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?

A

This is most likely a complex partial seizure

Why?

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)

108
Q

Week 232

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?

A

Should advise to refrain from driving, and also advise that they contact the DVLA

109
Q

Week 232

Which of the anti -epileptic drugs is associated
with the greatest risk of
developmental malformations
to an unborn child?

A

Sodium Valproate

110
Q

Week 232

Which of the anti-epileptic drugs does not reduce
the efficacy of the oral
contraceptive pill
?

A

Clobazam

111
Q

Week 232

What is phenytoin?

A

This is an anticonvulsant drug anticonvulsant drug used primarily in the management of complex partial seizures and generalized tonic-clonic seizures.

112
Q
A
113
Q

Week 232

What is the obvious abnormality in this image?

A

Brain tumour

114
Q

Week 232

What is the name of this condition?

A

This is a cavernoma.

115
Q

Week 232

What is the name given to this condition?

A

Heterotopic gray matter (around the ventricles) - very epileptigenic

116
Q

Week 232

What is the abnormality in this image?

A

Hippocampal sclerosis

117
Q

Week 232

What is the name given to the condition shown here?

A

Neurocysticercosis

118
Q
A