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Loz C Neurology > High Yield (NZ) > Flashcards

High Yield (NZ) Flashcards

1
Q

Carbamazepine key SE

A
  • Contraindicated in absence/myoclonic jerks
  • Rash (+SJS)
  • Leukopenia
    Hyponatremia
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2
Q

Valproate key SE

A
  • Weight gain
  • Embryopathy/teratogenic
  • Hair loss
  • Pancreatitis
  • Hepatic failure
    Lamotrogine interaction
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3
Q

Topiramate key SE

A
  • Nephrolithiasis
  • Weight gain
  • Acidosis
    Glaucoma
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4
Q

Clonazepam key SE

A
  • Increased secretions
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5
Q

Phenobarbitone key SE

A

Rash

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6
Q

Phenytoin key SE

A
  • Rash
  • Serum sickness
  • Hirsuitism
  • Gum hypertrophy
    Osteoporosis
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7
Q

Lamotrogine key SE

A
  • Rash
  • SJS
  • Severe hypersensitvity
    Valproate interaction
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8
Q

Vigabatrin key SE

A
  • Weight gain
  • Retinopathy
    Psychosis
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9
Q

Oxycarbazepine key SE

A

Hyponatremia

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10
Q
  • Which AEDs decreases half life of lamotrogrine and which increase half life?
  • Which drugs are CYP inducers and which are CYP inhibitors?
A

Drug Interactions
Decrease half life of lamotrogine
* Carbamazepine
* Phenytoin
* CYP inducers, increase metabolism

Increase half life of lamotrogine
* Valproate - increases levels of most AEDS
* Valproate - enzyme inhibitor

Valproate increases levels of carbamazepine (and most AEDs)

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11
Q

Epilepsy:
What is overview of how to classify epilepsy?

A
  • Are they having seizures vs other events? - Witness account
    • What is seizure type?
    • What is epilepsy type?
    • Do they fit epilepsy syndrome? Need EEG/VEM
    • Cause/etiology of epilepsy? - Labs, genetics, imaging
      Mx - acute, broad spectrum - antiseizure medications, ketogenic diet, VNS (vagal nerve stimulation)
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12
Q

Epilepsy:
What is definition of epileptic seizure and epilepsy?

A
  • Epileptic seizure - transient episode of neurological dysfunction brought about by abnormal synchronous and excessive discharge or cerebral neurons
    • Epilepsy - occurrence of 2 or more (recurrent) unprovoked epileptic seizures > 24 hours apart
    • A single seizure and evidence of seizure predisposition ( at least 60%) over next 10 years
    • An epilepsy syndrome
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13
Q

Epilepsy:
What is physiology of nerve cells and nerve conduction?

A
  • Nerve cells are resting, exciting or inhibiting other nerve cells
    • Signals travel down cell body –> axon –> synapse
    • Modified by ion (sodium, potassium, calcium) currents across channels in nerve cell membrane
    • Neurotransmitters pass across synapses
    • Excitatory (eg glutamate) or inhibitory (GABA/glycine) towards next neuron
      Seizures occur when imbalance within these excitatory and inhibitory circuits in the brain
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14
Q

Epilepsy:
What are common DDx/mimics for seizures?

A
  • Vasovagal
    • Cardiac arrythmias -always consider cardiac (ECG - QTc), vagal responses
    • Breath holding attacks - 6 month - 6 years, upset, hold breath, pale, limp, twitching of limbs
    • Day dreaming - especially in developmental delayed/intellectually impaired
    • Self stimulating behaviour - infantile masturbation- legs crossed over pelvis
    • benign neonatal sleep myoclonus- only when asleep, history, subcortical, not synchronous or organised
    • Migraine
    • Simple motor tic
    • Night terrors/parasomnias
      Pseudoseizures - often a new seizure type in a patient with epilepsy
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15
Q

Epilepsy:
What are characteristics of frontal lobe focal seizure?

A
  • Frontal (contains motor)
  • Involve motor of face and eyes
  • Hyperkinesia
  • Abduction, adduction of lower limbs
  • Motor - face and eyes
    Contralateral side
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16
Q

Which medication makes absence seizures worse?

A

Carbamazepine

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17
Q

Epilepsy:
What are types of generalised seizures?

A
  • Tonic - stiff
    • Clonic - jerks
    • Tonic clonic - stiff then jerks
    • Absence - typical, atypical, myoclonic absence - jerking with absence, eyelid myoclonia - jerking of eyelid
    • Myoclonic - jolt, Myoclonic - atonic - jolt, then lose tone, myoclonic - tonic - jolt then stiff
    • Atonic - lose tone
      Spasms
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18
Q

Epilepsy
What are types of focal seizures?

A

Characterised by
* Motor - focal clonic/tonic/dystonic (contract involuntarily)
* Focal - sensory
* Hypermotor
* Spasms
Non motor
* Autonomic
* Behavioural arrest
* Sensory
* Emotional
* Impaired or aware
May evolve to bilateral convulsive seizure

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19
Q

What is characteristics of childhood absence syndrome?

A
  • Hyperventilates
    • 3 Hz spike and wave - spike and slow wave
    • Lasts ~ 5 seconds
    • Cannot recall word during this time
    • Tx -1st line- Ethosuximide, 2nd line Sodium valproate
    • Prognosis - good, grow out by 2 years
      Older - absence seizure + myoclonic seizures - juvenile myoclonic epilepsy, older, not so encouraging, lifelong
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20
Q

What is risk with febrile convulsions of recurrent of FC and epilepsy?

A

Risk of recurrence
* < 12 months - 50%, < 12 months - 20%
* Other risk - FHx of C, low temperature, short duration between fever and Sz
* No risk factor and > 18 months - 4%
* Al risk factors and < 18 months - 76%
Risk of epilepsy
* ~ 3%
* Risk factors:
* FHX 1st degree relative of epilepsy
* Complex FS - prolonged/focal
* Abnormal neurology
* No risk factor - 1%
* 1 risk factor - 2%
2 or more - 10%

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21
Q

What are features of temporal lobe focal seizure?

A
  • Focal (most common type)
    • Temporal lobe - staring, lip smacking, fidgeting, head and eye turning to one side
    • Can be caused by prolonged febrile convulsion (50 mins) causing scarring of temporal lobe and hippocampus
    • Difficult to treat, refractory
      Often require surgery
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22
Q

What are characteristics of Dravet syndrome?

A
  • Often present with febrile seizure, hemiclonic
    • Then develops afebrile seizures and developmental regression
    • Genetic testing
    • Na channel
      Carbazepine for focal seizure - worsens
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23
Q

What is Benign rolandic epilepsy?

A
  • Rolandic epilepsy
    • Symptoms from sleep
    • Facial jerking, drooling, aphasic, bilateral jerking
    • Sharp slow waves, centrotemporal spikes
      Prognosis - usually resolves
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24
Q

What is Lennox Gaustaut?

A
  • Abnormal movements and spasms
    • Development stagnates
    • Initial response to Tx
    • Evolves tonic and absence seizures
      Can develop from West syndrome
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25
Q

What are key syndromes for neonatal period?

A

Benign familial neonatal epilepsy
* AD
* Within 7 days
* Tonic clonic seizures

Ohtahara syndrome
* Tonic
* Can develop into infantile spasms

Early myoclonic encephalopathy
* Myoclonic seizures
Can develop into infantile spasms

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26
Q

When should EEG be performed and timing?

A
  • EEG does not rule out a diagnosis of epilepsy
  • Should not be ordered in unsure whether events are epileptic seizures or not
  • Should be performed for all children who have epileptic seizure as essential for diagnosing epilepy stpe and making epilepsy syndrome diagnosis
  • Making this diagnosis helps to direct therapy, direct further Ix, prognostic info
    Timing - single epileptic seizure - within 8 weeks, 2 or more epileptic seizures - within 2 weeks, suspected developmental or epileptic encephalopathy - as soon as possible - eg within 48 hours for infantile spasms
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27
Q

How to interpret unexpected normal EEG result?

A
  • Half of children with epilepsy will have normal EEG - normal EEG does not exclude
  • Only capturing 20 mins in time
  • Gold standard is video capturing EEG of ictal event- difficult in practice
  • Rolandic - no sleep obtained
  • Absence - no hyperventilation,
    Temporal lobe events - No HV, no sleep deprivation, sampling errors
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28
Q

What are abnormal EEG findings and proportion related to having epilepsy?

A
  • 1-2 Hz spike wave - 98%
  • 3 Hz spike wave - 97%
  • Fast rhythmic activity - 97%
  • Temporal spikes - 90%
  • Occipital spikes - 90%
  • Centro-temporal spikes - 55-85%
    Spikes - 2-3% people without epilepsy will have
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29
Q

Epilepsy
When is MRI indicated?

A
  • Develop epilepsy before aged 3
  • Any suggestion of focal epileptic seizure onset on Hx, Ex or EEG
  • Epileptic seizures continue in spit of first line medications
  • Not required in genetic generalised epilepsies (or clear genetic focal epilepsy)
    Subtle lesions may be hard to find - repeat imaging
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30
Q

What is Status Epilepticus and 2 important time points?

A
  • 5 minutes or more of continous clinical and/or electrographic seizure activity or recurrent seizure activity without recovery
  • Most Sz last less than 5 mins, if seizures until then unlikely to stop spontaneously
  • T1 - 5 mins - time when seizures unlikely to cease spontaneously, abortive Tx introduced
    T2 - 30 mins - time to neuronal injury with generalised convulsive seizures - due to hypoxia, need to escalate to more aggressive Mx
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31
Q

What is acute Mx for seizure?

A
  • ABCS
  • IV access
  • 2 x midazalom or benzo -not ongoing doses and benzos downregulate GABA receptors and make refractory to further AEDs
  • AED - keppra or phenytoin
  • Earliest possible termination of seizure to prevent neuronal damage
  • EEG monitoring
    Search for cause - glucose, Ca
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32
Q

What is rescue medication and when indicated?

A
  • Buccal midazolam 2.5 - 10mg
    Rescue medication - over 3 months, prolonged febrile or afebrile tonic and/or clonic seizures (> 5 minutes)
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33
Q

What are 1st line AED for generalised and focal epilepsy types?

A

Generalised:
* GTC:
* Over 3 - sodium valproate
* Under 3 - clobazam, levetiracetam, lamotrogine
* Myoclonic - Valporate, clobazam
* Tonic/atonic - Valproate, clobazam

Focal
* Carbamazepine
Lamotrogine - Han Chinese HLA-B 1502

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34
Q

What are first line treatments for epilepsy syndromes? (Absence, juvenile myoclonic, centrotemporal spikes)

A

Absence epilepsy
* 1st - Ethosuximide (same efficacy as valproate but less side effects)
* 2nd - Valproate, lamotrogine
* 3rd - Levetiracetam, clobazam, acetazolamide

Juvenile myoclonic epilepsy
* 1st - Valproate
* 2nd - lamotrogine, levetiracetam, topiramate

Childhood epilepsy with CT spikes
* 1st - carbamazepine, lamotrogine
2nd - levetiracetam, valproate

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35
Q

What are 1st line AED treatment for more serious epilepsy syndromes? (IS, Dravet, Lennox Gastaut)

A

Infantile spasms
* 1st - Prednisolone/ACTH - 2 weeks then taper
* 1st (with tuberous sclerosis) - Vigabatrin
* 2nd - Vigabatrin, ketogenic diet

Dravet syndrome
* 1st - Valproic acid, clobazam
* 2nd - levetiracetam, ketogenic diet, stiripentol

Lennox Gastaut syndrome
* 1st - Valproate, clobazam
2nd - ketogenic diet, rufinamide, felbamate

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36
Q

What are some precision treatment, gene specific Tx?

A
  • TS - vigabatrin, mTOR inhibitors
  • SCN1a (Dravet) - valproate, clobazam, lev, CBD, fenfluramine
  • KCNQ2 (Developmental and epileptic encephalopathy - carbamazepine, phenytoin
  • PRRT2 (benign familial infantile seizures- carbamazepine
  • SLC2A1 (absence or myoclonus) associated GLUT1 - ketogenic diet
    HLA-B*1502 antigen - identify individuals at high risk of carbamazepine induced SJS
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37
Q

Where do main classes of AEDs work?

A
  • GABA - valproate, vigabatrin, benzos, barbiturates, gabapentin
  • Na + channels - carb, lamotrogine, phenytoin
  • SV2A - levetiracetam
  • NMDA - valproate
    Ca - Ethosux
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38
Q

What are alternative treatments to AEDs?

A
  • Vagal nerve stimulation
  • Ketogenic diet
  • Epilepsy surgery
    Immunomodulation - steroid, IVIG
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39
Q

What is SUDEP and risk factors?

A
  • 1/3,000
  • Higher risk with neurodisability, CP, can’t clear secretions - 25% over 20 years
  • High seizure frequency, convulsive
    During or shortly after seizure - resp failure, seizure induced bradyarrythmias
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40
Q

NMD:
What are key features on history for neuromuscular disease?

A
  • Weakness and sensory
    • Distribution - single limb, patchy, proximal, distal
    • Acuity - acute vs chronic
    • PHx - was child previously normal?
    • Trauma, illness, meds, immunisations, toxin exposure
      Rate of deterioration
41
Q

What is myopathic facies?

A
  • Expressionless, sunken cheeks, bilateral ptosis, unable to elevate corners of mouth
    • Open mouth
      High arched palate- way it descends is how strong muscles are
42
Q

NMD:
What are causes of different distributions of weakness?

A
  • Nerve disease - mainly peripheral
    • SMA - generalised
    • SMA III and limb girdle muscle dystrophy - Duchenne - proximal
      Facio - scapular humeral dystophy - scapula, facial weakness
43
Q

NMD: What are targeted examinations for neuromuscular disease?

A

Gower sign
* Sit up from chair, have to assist self standing up
* Proximal weakness

Myotonia
* Difficult opening fist from clenched fist
* Induce mytonia by tapping on thenar eminenence- coming in

Fasciculations
* Denervation

Scapular winging
* Limb girdle dystrophies
Facio-scapular humeral dystrophy

44
Q

NMD:
What are features of neuropathy?

A
  • Numbness
    • Pain
    • Sensitivity to touch
    • Coordination difficulty - proprioception
    • Weakness
      Bladder/bowel dysfunction
45
Q

NMD:
What are main causes of acquired vs congenital NMD?

A

Acquired -Is and Ts
* Inflammation
* Iatrogenic - chemo agents
* Infection
* Trauma
* Toxic - organophosphates
* Tumour
Congenital
* Genetic/metaboilc
Maternal - check mother

46
Q

What is the best test if confident for CMT?

A
  • Gene testing
    CMT1a - 17p11PMP-22 (chromosome 17 duplication)
47
Q

What is common presentation for CMT1

A
  • Muscle wasting, difficulties with proprioception, co-ordination, balance
    Family history often positive - dominant inheritance
48
Q

NCS - What are parameters measured?

A
  • Latency - Speed of conduction - time relationship between stimulus and the response (speed of conduction)
    Amplitude - How well preserved the signal is- voltage relationship between stimulus and response (preservation of voltage)
49
Q

NCS - What is conduction velocity and what pathologies does it show?

A
  • Examines intergrity of myelin sheath
    • Wire intact - conducts faster
    • Eg - CMT Type 1 - demyelinating neuropathies
    • Conduction velocity decreases below 50% in CMT Type 1
    • Sensory fibres are most vulnerable and affected first
      In severe demyelination, sensory responses may be altogether absent
50
Q

NCS - What is amplitude and which pathologies does it show?

A
  • Any pathology which reduces number of nerve fibres or muscle fibres will reduce amplitude
    • Lose nerve fibres
    • Eg - CMT Type 2 - axonal neuropathies
    • Sensory fibres affected first, decreased amplitude
    • Progresses, motor amplitudes decreases
      Velocity also slowed down due to decrease of fast conducting fibres
51
Q

What are 2 types of CMT and findings on NCS?

A

Type 1 - demyelinating -loss myelin and slower conduction, decreased conduction velocity
Type 2 - axonal loss - less muscle fibres, decreased amplitude

52
Q

What are causes of demyelinating, axonal and inflammatory neuropathy?

A

Demyelinating - decreased conduction velocity
* CMT 1 and 4
* HMSN 3
* Krabbe
* MLD

Axonal - decreased amplitude or block
* CMT 2

Inflammatory
CIDP

53
Q

What is clinical presentation and pathophys of myaesthenia gravis?

A
  • Opthalmoplegia - paralysis of extraocular eye movements
    • Ptosis

CXR
* Thymus hyperplasia
Enlarged thymus - benign
* Problem at neuromuscular junction
ACh receptor blocked by antibody

54
Q

What expect on NCS for myaesthenia gravis?

A
  • Accumulation of ACh, block NMJ
    • Amplitudes and conduction velocities normal
    • Slow repetitive stimulation of muscle - decremental response
    • Each subsequent response lower and lower
      Could also be other things that block NMJ - eg organophosphate phosphates
55
Q

What is difference between dystrophy and myopathy and expected CK?

A
  • Dystrophy - degenerative loss and destruction of previously normal architecture, relatively high CK
    Myopathy - abnormal architecture, minimal increase in CK
56
Q

What is SMA?

A
  • Recessive
    • 2nd most common after CF
    • 1 in 40-60 carrier
    • 1/10,000
    • SMA0 - all 4 copies deleted, lethal in utero
    • Type 1 SMA - lost SMN1, have SMN2
    • Type 2 SMA - 3 x SMN2, lost 1 SMN1
    • Type 3 SMA - 4 x SMN
    • Loss of SMN1 protein
      Multiorgan
57
Q

What is EMG electromyography? 2 common pathologies?

A
  • Muscle function and individual motor units
    • Needle placed into muscle or motor unit

What is pathology seen on EMG?
* SMA - active denervations, random potentials, fibrilliations - seen clinically as fasciculations
Myotonia - high frequency discharges vary in amplitude and frequency

58
Q

NF1:
What is genetics?

A
  • 1:3,000
    • Autosomal dominant
    • 30-50% new mutations
    • Due to mutations in NF1 gene
    • Tumour suppressor gene - codes for neurofibromin - regulates cell signal transduction pathways
      100% penetrant by 5 years
59
Q

NF1: diagnostic criteria?

A

Diagnostic Criteria - requires 2 or more
1. Equal or more than 6 café au lait patches - (not uncommon to see 1-2) ,> 5mm prepubertal, > 15mm postpubertal
2. 1st degree relative with NF - must examine parents/siblings
3. Axillary or inguinal freckling - develop by ~ 5
4. Optic nerve glioma - 15%, normal vision, symptomatic 2%, loss of vision/proptosis if expands. Treat with carboplatin - critical, can preserve vision
5. 2 neurofibromas or 1 plexiform neurofibroma - neurofibroma - peripheral nerve sheath tumour, benign, plexiform neurofibroma - more extensive tumour, can become malignant
6. Lisch nodule - tan coloured harmatomas of iris, do not affect vision, Opthal with slit lamp
Distinctive osseous lesions - thinning of long bones, long bone/sphenoid wing dysplasia, pathological #

60
Q

NF1:
Other Complications/ Manifestations

A

UBOs - unidentified bright objects
* Hyperintense regions on T2 MRI
* Cerebellum > brainstem > internal capsule
* Benign
* Present in 2/3
* Increase in size until 10 y.o then often disappear

Seizures
* 5%
* ? Assoc with UBOs
* If focal, consider intracranial malignancy

Learning difficulties
* 50%, ID 5%
* Lower IQ but not everyone

CNS Tumours
* Optic nerve gliomas common
* Other CNS tumours not as common (but x 5 risk than general population)

Malignant Peripheral Nerve Sheath tumours
* Neurofibrosarcoma
* Pre-existing plexiform neurofibromas
* Painful, rapid growth
* Highly malignant - PET and surgery

Spinal Neurofibromas
* Infiltrate spinal
* Extensive and painful

Scoliosis
* Most common in adolescence

Short stature
* 10-15%

Macrocephaly
* Common, related to stature, brain volume increased

Hypertension
* 6% - renal artery stenosis, phae

Pubertal disturbance
* Rare, consider CNS lesion

Mortality
Mean age death 54/59

61
Q

NF1: Monitoring?

A

Yearly:
* Learning evaluation and formal psychometric evaluation
* Neuro assessment
* BP
* Scoliosis
* 6-12 monthly Opthal
Routine neuroimaging not recommended (controversial)

62
Q

NF2: Genetics?

A

Genetics
* Autosomal dominant
* Up to 50% new mutations
* Due to mutations in NF2 gene
* Tumour suppressor gene - codes for merlin - merlin links between membrane proteins/cell cytoskeleton
* Fully penetrant
* Non sense/frameshift - severe disease
Missense - milder

63
Q

NF2: diagnostic criteria?

A

Diagnostic Criteria - one of
1. Bilateral vestibular schwannoma
2. First degree relative with NF2 AND unilateral vestibular schwannoma or 2 of meningioma, schwannoma, glioma, neurofibroma, lenticular opacities (cataracts)
3. Multiple meningiomas AND unilateral vestibular schwannoma, 2 of schwannoma, glioma, neurofibroma, lenticular opacity

64
Q

NF2: Clinical Features?

A

CNS Tumours
* Almost all will have bilateral vestibular schwannoma by aged 30

Neurological lesions
* Vestibular schwannoma 95%
* Meningiomas
* Spinal tumours

Eye lesions
* Cataracts 60-80%
* Retinal harmatomas

Other
* Unilateral hearing loss 35%
* Focal weakness
* Tinnitus
* Bilateral hearing loss
* Balance dysfunction
* Seizure
* Focal sensory deficit
* Visual loss

* DON'T get > 6 CAL/Lisch nodules/axillary freckling  Average age of death 36
65
Q

NF2: Management

A
  • Average age death 36
    • Spinal tumours in 2/3
    • Annual MRI
    • Surgical Mx of vestibular schwannoma
    • Monitor and treat cataracts as needed
    • New Rx - Avastin (bevacizumab) - shrinks vestibular schwannomas
66
Q

Tuberous Sclerosis - genetics

A
  • Autosomal dominant (2/3 new, 1/3 FHx)
    • Abnormal TSC1 or TSC2 (tumour suppressor gene) –> encode tuberin and hamartin –> abnormal signalling/expression –> hamartomas
    • Multiple benign harmartomas (benign growth disorganised cells) of multiple organs
    • Tuber = potato
67
Q

TS - skin findings and approx %

A

SKIN
3 Hypomelanotic depigmented lesions (Ash leaf)
· May only be seen on Woods lamp
· Present in nearly all

Shagreen patch
· Leathery
· 60%

Ungual/periungal fibroma
· Nail

Facial Angioma or Forehead plaque
· Adenoma sebaceum “acne like” - 75%
· Butterfly/malar region
· Forehead plaque - distinctive brown fibrous plaque on forehead - 25%

68
Q

TS - brain and CNS findins

A 
BRAIN (>75%) 
	· Cortical tubers "potatoes"
	· Subependymal nodules 
	· Astrocytoma - subependymal giant cell astrocytoma
	· Can cause hydrocephalus
	· White matter radial migration
	· Seizures
	· ID
Behavioural issues
69
Q

TS - renal, cardiac, other and complications?

A 
RENAL (common 80%)
	· Renal angiomyolipomas
	· Can bleed
	· Multiple renal cysts - benign
	· Renal cell carcinoma 3%

CARDIAC
· Cardiac angiomyolipomas
· Rhabdomyomas

OTHER
Opthal
· Retinal lesions (harmatomas), Mulberry lesions

RESP
· LAM - lymphangiomyomatosis

Complications
· 85% with TS have Cx
· Seizures - infantile spasms - 20% will have TS, myoclonic, partial, GTCS, can be refractory to Tx
· Intellectual Disability 50% - mild to severe
Behaviour - ADHD, autisim, sleep

70
Q

TS - surveillance, Mx and counselling?

A 
Surveillance 
	• Brain - MRI, EEG 
	• Renal - imaging 
	• Cardiac - Echo, ECG
	• Resp

Mx
• mTOR inhibitors - sirolimus, everolimus
• Renal - embolisation
• Seizures - vigabactrin

Genetic counselling
• Must assess parents - Woods lamp, MRI brain, renal, opthal
If normal, recurrent risk 2% (not 0% gonadal mosaicism)

71
Q

Encephalitis
What is it and common causes?

A
  • Brain inflammation
    • Infectious 75% - enterovirus 10%, parechovirus 10%, bacterial 8%, influenza 6%, HSV 6%, mycoplasma pneumoniae 6%
    • Immune - 25% ADEM 18%, anti NMDA 6%
    • 5% mortality - most from infectious
    • 1/3 have mod-severe neurological sequale
      Study excluded neonates
72
Q

Encephalitis
What is definition and criteria?

A
  • Altered mental state > 24 hours (with no alternative cause)
    • 2 for possible, 3 probable/confirmed:
    • Fever wtihin 72 hours
    • New seizures (not fully attributable to pre-existing disorder)
    • New onset focal neuro findings
    • CSF WCC > 5
    • Neuroimaging abnormality consistent with encephalitis
    • EEG abnormality consistent with encephaliitis
      And EXCLUSION of encephalopathy caused by trauma, metabolic, tumour, alcohol, sepsis, other infectious causes
73
Q

ADEM - Acute disseminated encephalomyelitis

A

What is it and clinical presentation?
* Monophasic inflammatory disease
* Age 5-8
* Often a preceeding acute systemic infection or vaccination
* Prodrome - fever, malaise, headache, myalgia, nausea and vomiting
* Rapidly progressive encephalopathy not explained by fever
* Behavioural change or altered consciousness - must be present
* Other polyfocal neurological signs - CN palsies, hemiparesis, ataxia, myelopathy or optic neuritis
Abnormal MRI

74
Q

ADEM
What are most common clinical signs?

A
  • Unilateral/bilateral pyramidal signs
    • Acute hemiplegia
    • Ataxia
    • CN palsies
    • Visual loss due to optic neuritis
    • Seizures
    • Spinal cord involvement - often silent, inflamm protocols always have MRI brain and spine
      Impairment of speech
75
Q

ADEM
What are common CSF findings?
What are common MRI findings?

A
  • Mild pleocytosis (less than 50 WCC)
    • Oligoclonal bands uncommon

ADEM
What are common MRI findings?
* T2 hyperintense lesions (T2 CSF white but FLAIR CSF signal suppressed)
* Deep and subcortical white matter
* Sparing of periventricular white matter and corpus callosum
* Deep grey matter (thalamic and basal ganglia) less common
* Cerebellum, brainstem and optic nerves
Spinal cord involvement detected in absence clinical defect

76
Q

ADEM
What are common DDx?

A
  • Infections bacterial, viral and fungal - should be covered with aciclovir, cannot tell clinically between ADEM and acute viral encephalitis
    • Metabolic - organic aciduria, mitochondial disease
    • Autoimmune disease - SLE, Behcet’s, sarcoidosis, primary CNS vasculitis
    • Autoimmune encephalitis
    • Macrophage activation - eg HLH
    • Malignancy - lymphoma, glioma
      MS
77
Q

ADEM
What is Mx?

A
  • Antibiotics and aciclovir while excluding other diagnoses
    • 1st line - Steroids - methylprednisolone 3-5/7 -immunosuppressive
    • 2nd line - IVIG - 2-5/7, steroid unresponsive
    • Plasmapheresis - acute fulminant demyelinating disease
      Surgical decompression - raised ICP and continued clinical deterioration
78
Q

ADEM
What is prognosis?

A
  • Rapid improvement usually over days
    • Full recovery 1-6 months
    • Full recovery 57-89%
    • Minor residual deficits 20-30%
    • Increased recognition of subtle neurocognitive deficits - subtle deficits in attention, executive function, behaviour when re-evaluated over 3 yers after ADEM
      Lower IQ, behavioural problems, lower educations achievement
79
Q

MOG
What is MOG and antibodies against MOG?

A
  • MOG positive
    • MOG - myelin oligodendrocyte glycoprotein
    • Protein expressed on surface of oligodendrocytes and myelin in CNS
      Plasma cells in blood produce antibodies, cross BBB, attack MOG protein on oligodendrocytes and myelin in CNS
80
Q

What is MOGAD?

A
  • MOG associated demyelinating disease
    • Affect adult and children
    • Spectrum of conditions that can be MOG positive
    • Can be isolated ADEM
      ADEM + optic neuritis + longitudinally transverse myelitis
81
Q

What are common demyelinating syndromes and approx percentage that are MOG antibody positive?

A
  • 30% of all acquired demyelinating syndromes
    • 35% of relapsing disease

Demyelinating syndrome and % MOG Ab positive
* All acute demyelinating syndromes - 30%
* ADEM 60%
* Multiphasic ADEM (recurs after 3 months of initial) or ADEM-ON (optic neuritis) - 95%
* Optic neuritis 37%
Transverse myelitis 13%

82
Q

MOG Ab positive
What is acute Mx?

A

· IV methylpred 3-5/7 (similar to ADEM of any cause)
· 2nd line - IVIG
· Longer steroid taper > 3 months - reduced risk of relapse
Most relapses occur below 0.25-0.5mg/kg/day

83
Q

MOGAD
When and what maintenance therapy to commence?

A

· Multiphasic, recurrence
· Commence maintanence therapy
· Azathioprine, mycophenolate, rituximab - all decreases relapses but not all cases
Monthly IVIG - least anount of relapses

84
Q

Multiple sclerosis
Overview

A

· Rarer in children but earlier onset, higher disability score
· Multiple episodes of CNS demyelination separated in time and space
· Usually present with Clinically isolated syndrome, not ADEM
Second event usually occurs in first 2 years

85
Q

MS
What is diagnostic criteria?

A

· Multiple episodes of CNS demyelination separated in time and space
· 2 non encephalopathic clinical CNS events more than 30 days apart, more than 1 area of CNS
· 1 non encephalopathic CNS event with MRI findings and a follow up MRI 1 new lesion
· 1 episode ADEM (encephalopathy) and a non encephalopathic CNS event 3 months later, differnet area
· Non ADEM event with associated MRI findings
Aggressive - to start disease modifying treatment earlier

86
Q

MS
What are differentiating factors between ADEM and MS?

A

· ADEM: 5-8 yr, equal gender, viral prodrome common, encephalopathy required, seizures cmmon, MRI large lesions, CSF WCC variable, oligoclonal bands variable,
MS: adolescent, F>M, viral prodrome uncommon, seizures rare, MRI over time new lesions, pleocytosis rare, oligoclonal bands common

87
Q

MS
What is Mx?

A

· Methylprednisolone - immunosupressive, anti-inflammatory
Disease modifying medications - Fingolimod (most used now), intergeron B 1a, copaxone, natalizumab

88
Q

AQP4 Neuromyelitis optica spectrum disorder NMOSD
What is it?

A

· Acquired inflammatory demyelinating disease
· Mainly involved optic nerves, brainstem and spinal cord, severe attacks of optic neuritis and transverse myelitis
· Childhood- late adulthood - ~39, female >male
· Aggressive, 80% risk relapse
· 50% chance of visual impairment or wheelchair dependent within 5 years
Start maintenance therapy after 1st episode

89
Q

NMSOD
What are clinical features?

A

Optic neuritis
· Bilateral simultaneous or sequential ON rapid
· Visual impairment > 60%
Transverse myelitis
· Complete - para or tetraparesis
· Longitudinally extensive (>3 vertebral segments)
· Mainly cervical or thoracic cord
Can go to lower medulla - cause brainstem symptoms - vomiting, hiccups

90
Q

NMOSD
What is acute Mx?

A

· 1st line - steroid - high dose IV methylpred 3-5/7
· Long taper 3-6 months
· 2nd line - IVIG
· Plasma exchange
Earlier escalation to PLEX had better outcomes

91
Q

NMDA receptor encephalitis
What is it?

A

· 1/3 < 18 years
· F>M
· Anti-NMDA receptor antibodies - directed against GluN1 subunit of NMDA receptor
· Best tested on CSF (15% missed on serum, MOG and AQ can be tested serum)
High risk of underlying tumour, mainly ovarian teratoma - do US or MRI

92
Q

NMDA receptor encephalitis
What are common clinical features?

A

· Behaviour change
· Psychiatric - Psychosis, delusions, hallucinations, agitation, aggression, catatonia, 77% of adult patients first see psyhiatrist. Rarely only manifestation
· Loss of speech, aphasia, perseveration, mutism
· Dyskinesia - orofacial and oculogyric movements and perseverative (repetitive movements)
· Seizures
· Sleep disturbance/insomnia
Dysautonomia

93
Q

NMDA encephalitis
What is treatment?

A

· Tumour removal
· 1st line - methyprednisolone, oral pred or IV pulse 3-12 months
· Severe patients - AND IVIG or PLEX
· Rituximab - 2 weeks after first line, for 4 weeks
· Prolonged admission/slow recovery - up to 18 months
· Symptom control - anticonvulsants, benzos, clonidine, chloral, sodium valproate
Caution with antipsychotic use - > 50% have dystonic reaction or NMS

94
Q

Demyelinating disease
What are common antibodies and which anatomy assoc with?

A

· Neuronal surface or synaptic antigens - NMDA
· Oligodendrocyte antibodies - MOG
Astrocytes - AQP4

95
Q

GBS
What is cause and overview?

A

· Acute monophasic polyradiculoneuropathy
· Acute inflamm demyelinating polyneuropathy (AIDP) in children, adults axonal
· Criteria - progressive, ascending, bilateral legs then arms, reduced tendon reflexes
· Elevated CSF protein - 1/3 have normal if early
· Preceding infection 3-6 weeks earlier -
Campylobacter 30%, CMV, EBV, mycoplasma

96
Q

GBS
What are common presenting features?

A

· Non specific pain - can be severe require gaba
· Ascending weakness - 60% unable to walk, 10-15% require ventilation
· Peak 7-10 days
Autonomic dysfunction - bladder, constipation, hypertension, tachycardia

97
Q

GBS - findings on NCS?

A

· Proximal nerve root affected, mainly demyelination
· First week - prolonged/absent F waves
· Prolonged distal latency - decrease conduction - myelin
· Conduction block

· Second week: 
· Reduced CMAP amplitude - lose motor fibres
· Prolonged distal latency - less myelin
· Reduced conduction velocity  Sensory nerves affected 50%
98
Q

GBS
What is Mx?

A

· IVIG or PLEX
· NOT steroid
· Eculizumab ongoing trials
· Tx related fluctuation - 10%
· 5% have acute onset CIDP (chronic inflamm demyelinating polyneuropathy)
· Other Sx - pain, bladder, bowel
Rehab

99
Q

Opsoclonus-myoclonus-ataxia syndrome
What is it, clin pres, cause, association?
Ix and Mx?

A

· Opsoclonus - erratic eye movements
· Myoclonic jerks
· Ataxia - wide based gait, unsteady
· Behavioural disturbance
· Irritability
· Cause - autoimmune inflammatory reaction targeting CNS tissue, triggered by either paraneoplastic or infectious event
· 1-3 years
50% have neuroblastoma

What are Ix?
· CSF - normal or mild pleocytosis, oligoclonal bands 30%, B cell
· Urine catecholamines - neuroblastoma
· MRI
· May need to repeat if normal

OMA Syndrome  What is Mx? 
· Tumour resection 
· Steroid - ACTH or pulse dex over oral pred
· Aggressive Tx, aim for complete remission Improved developmental outcomes if aggressive with steroid + IVIG + ritux

Loz C Neurology (8 decks)

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