Neuro Flashcards
What are the two major groupings of seizures and what are the differences In the two?
Focal- maintained awareness
Generalised- reduced awareness
What is the general population risk of epilepsy
How does it increase with 1 seizure? With 2
2%
30%
60%
Benign familial neonatal epilepsy
Gene association
What does it encode for
Do they normally resolve?
KCNQ2
Potassium channel
Yes!
Febrile convulsions
What age group do they appear in?
What is the rule of 3s
What defines a complex febrile convulsion
6 months to 6 yrs
30% recur, 30% have family history and 3% have epilepsy
>15 mins, focal, rescuers within 24 hours
What are 2 more complicated forms of febrile seizures?
Generalised epilepsy with febrile seizures plus
Dravet syndrome
Dravet syndrome
Genetic mutation type of seizures
SNC1A mutation
Febrile- more prolonged and frequent that progress to myoclonic seizures with developmental delay
Benign generalised epilepsy
What do you see in juvenile myoclonic epilepsy? What makes it worse
What is seen on eeg?
How many persist? Is lifelong treatment needed?
Is treatment usually needed for benign myoclonic epilepsy of childhood?
Morning clumsiness with myoclonic seizures. Alcohol or sleep deprivation.
Photo sensitivity with generalised poly spike and waves
Na valproate- lifelong usually!
No- usually resolves by 2
Benign focal epilepsy What is the most likely cause in children What types of seizures are seen? What is seen on eeg Do they usually grow out of it?
What might you see with AD nocturnal frontal lobe epilepsy
What is the defect?
What is the inheritance?
Rolandic epilepsy
Focal seizures at night. Might be missed!
Centro-temporal spikes increased with sleep deprivation
Yes by adolescence
Screaming and fencing posturing
ACH receptor defect
AD
Absence seizures
When do they usually present?
Are girls more likely to have them or boys?
What is seen on eeg?
What can they be associated with in the under 4 yrs? How is this found? What is the treatment
What is different about juvenile absence
Before school
Girls
3hs spikes, increased with hyperventilation
Channelopathies- glucose 1 transporter- low glucose in the CSF but normal in serum. Ketogenic diet
Less likely to resolve
When can AEDs be stopped?
What is the recurrence rate
2 yrs after last seizure
30-40%
What is temporal lobe epilepsy likely to show
A focus e.g. tumour, prev meningitis or prev febrile convulsions
What is Todd’s pariesis
Focal motor seizure with a prolonged post ictal phase- can last days!
Severe focal epilepsy
What is panyiotopoulos syndrome
What is seen on eeg?
Focal seizures with vomiting. Can have migraines or auras
Occipital spikes
Severe generalised epilepsy
What can infant myoclonic seizures progress to? What might be causing it?
What is seen on eeg?
What other syndrome is similar but associated with brain anomalies
Early myoclonic encephalopathy
Metabolic problem
Burst suppression
Otahara syndrome
Severe generalised epilepsy
West syndrome- what is the triad
What gene might be involved if ambiguous genitalia is seen?
Hypasrrhythmia, developmental delay and reduced iq- either pre or post
ARX gene
Severe generalised epilepsy
What is the triad of Lennox gastaut syndrome
What is seen on eeg
What may be in the history to make it more likely
What is a similar syndrome which is less severe (2 names
Difficult to control seizures of multiple types
Typical eeg
Severe dev delay
Slow background with spikes in the sleep
Falls
Dose syndrome- myotonic astatic epilepsy
Aicardi syndrome
What are the features on brain and mri
What types of seizures are likely what is the inheritance. Are girls or boys more likely to get it?
Retinal pits or lucencies
Agenesis of the corpus callosum
Infantile spasms
XLD. usually fatal in males
What is seen in a progressive myoclonic epilepsy?
What type is seen in children?
Dementia and seizures
Lofara disease
Landau kleffner syndrome
How does it present?
What gene is associated. What is the other presumed cause?
What is seen on eeg
Regressed language skills and verbal agnosia in a prev well child
Grin2A or autoimmune
Normal or high spikes in rem sleep or continuous spikes
Pyrodoxine deficient seizures
How do they present
What might be seen in utero
What is tested
How are they treated
Progressive seizures from infancy
Increased fetal movements
Urine or serum alpha aminoadipic semialdehyde (Aasa)
Give B6!
Na valproate Side effects Is it a p450 inducer What happens with lamotrigine When is it contraindicated
Weight gain, pancreatitis and low plt
No!
Increased risk of SJS
Under 2s
Vigabatrin
Side effects
Weight gain and retinopathy
Carbamazepine Side effects HLA association What happens with lamotrogine What 2 seizure types is it contraindicated in
Rash and leukopenia
1502- increased risk for SJS
Increased effect of carbamazepine
Absence and JME
Levetiractam
Side effects
What neurotransmitter does it bind to
Fatigue and behaviour change
Synaptic vesicle protein
Topirimate
Side effects
Weight loss
Renal stones
Phenytoin
Side effects
Is it a p450 inducer?
Rash gum hypertrophy and megaloblastic anaemia
Yes!
SMA
Outline the basic physiology
What causes it?
What chromosome is coded for
Progressive degeneration of muscles due to loss to survivor muscle protein. Atrophy of anterior horn cells
Loss of Survivor motor neurone protein
Ch 5
SMA
Type and pattern of weakness?
Does it involve the heart?
What is the severe form called. What are the features
What is the less severe form and how do they differ
Progressive
Proximal>distal, lower limbs more than upper, symmetrical. Spares face!
No!
Type 1 werdning Hoffman. Never sit. Poor cry and suck. Frog legs. Areflexic
Type 2- present later, slowed milestones from 18m
SMA
What is the CK level?
What is seen on muscle biopsy?
What will the EMG and NCS show
What is the novel treatment. How is it given
Mildly elevated
Giant type 1 fibres and atrophy of other fibres
EMG- fibrillation
NCS- reduces motor amplitude
SMA antisense oligonucleotides- nusinersen- intrathecal
Myaesthenia Gravis
What is the most common cause
What happens
Autoimmune
Antibodies to acetylcholine receptors on the post synaptic membrane
Myasthenia gravis
Characteristic weakness
What can be the first sign on presentation- can it be unilateral?
Fatiguable. Proximal more than distal. Involves bulbar and diaphragm when severe
Eye signs- ptosis and ophthalmoloplegia. Yes!
Myaesthenia
How does a cholinergic crisis present
What usually causes it
How should it be treated
Sweating vomiting nausea and increased weakness
Too many anticholinesterases
Atropine
Myaesthenia
What is a myaesthenic crisis
How should it be treated
Sudden increased weakness
Anticholinesterases and resp support
Myaesthenia gravis
What antibodies are found
How many positive in children
Antiacetylcholine receptor-IgG
50% only
Myaesthenia
What is the difference between transient neonatal and congenital
Transient= mum had myaesthenia. Resolved in a few days. May rarely have arthrogryposis
Congenital= permanent lesions due to AR or AD disorder of NMJ
Don’t have antibodies
What poisoning may mimic myaesthenia
What other autoimmune disease might MG associate with
Organophosphates
Hypothyroidism
Botulism Why does it cause weakness Characteristic pattern Associated signs What might precipitate it in a neonate
Produces a neurotoxin that binds to the post synaptic membrane
Descending paralysis with bulbar palsy
Dilated pupils
Gent or curling them up for a LP
Guillian barre
What causes the demyelination
What viruses are involved? Timing?
When should it be treated? How
Monocytes damage the myelin scheath Zika Campylobacter 10d prior If severe eg bulbar involvement or not walking- steroids and IVIG
Guillian barre
Pattern of weakness
Characteristic sign
Distal to proximal- progressive over a few days Symmetrical Can have sensory and bulbar involvement Lower motor neurone pattern Reduced reflexes
Miller Fischer syndrome What is it Pattern of weakness What type of encephalitis does it overlap with What antibodies do the 2 associate with
Variant of guillian barre
Cranial nerve 6 ophthalmoplegia, ataxia and reduced reflexes
Bickerstaff
GQ1b
Guillian barre
What is seen on LP
What is seen on NCS
If it doesn’t recover what might it be called
High protein level
Reduced conduction velocity
Chronic inflammatory demyelinating polyradiculoneuropathy
ADEM
How quickly after a virus does it come on?
What are the symptoms and signs
What is the association with MOG abs
Headaches and back pains with meningitis and confusion- encephalopathy
UMN signs and incontinence
More likely to be recurrent- can therefore actually be MS
Neuromyelitis optica
What 2 ways can it present? Give specifics of the 2
What antibody is most likely involved
Management
Transverse myelitis- sudden onset para or quadraplegia. Usually longitudinally extensive
Optic neuritis- sudden eye pain, blindness, reduced visual fields or reduced colour vision
Aquaporin4
Anti MOG disease
How does it present?
Prognosis?
Relapsing ADEM or NMo less rarely
Good prognosis- much better than aquaporin 4
What is the difference between a dystrophy and a myopathy?
What is the usual pattern of weakness in muscle disease? What is the exception.
Dystrophy= degeneration and damage to a previously normal muscle
Myopathy=functional muscle issues- prev abnormal architecture
Proximal>distal weakness unless myotonic MD
Muscular dystrophies
What is the genetic cause?
What happens in duchennes and Becker’s
What is the inheritance of duchennes
Defect in x21.2
Duchennes=non sense mutations normally deletions, lack dystrophin protein
Becker’s=misense, reduces amounts
XLD
Duchennes
What is the classical disease pattern
What are the signs in terms of pattern of weakness
Do they have fasiculations
Normal at birth, delayed motor milestones, don’t walk, positive grower and calf pseudohypertrophy, waddling gait. Face gets weaker with age. Wheelchair by 10. Death by 21-resp causes
Symmetrical, proximal, LMN signs
No!
Duchennes
What other body system is likely to be involved
When is treatment needed?
Is the IQ normal?
Heart- cardiomyopathy
When EF<55%
No!
Duchennes
What medication is proven to be useful?
Prednisolone!
Becker
Does it involve girls
How does it present
What is the IQ
No- XLD too
Normal until adolescence then weak with pseudohypertrophy and cardiomyopathy death in adulthood
Usually more normal
What happens to CK levels over life in myotonic dystrophies
Will it be increased in carriers
What hat body system do carriers need screened
High +++ then reduces
Yes
Cardiac screening
Facioscapulohumeral MD
what is the inheritance
What is the pattern of weakness
What about the weakness is telling
AD. Shows anticipation
face first- can’t close eyes when sleeping, puckered Lips. Hearing loss. Winged scapulae. Hips increasingly weak- trendelenberg and positive gower sign
Asymmetrical
Limb girdle
How does it present
What is the inheritance
Back pain= lumbar lordosis then progressive weakness becoming more distal
AR
Emery Dreifuss
What is the pattern of weakness
What other system is severely involved
What do they not have
Severe resp weakness and wasting
Severe Dilated cardiomyopathy
No ID or pseudohypertrophy
Congenital muscular dystrophies
What are they usually linked to?
How do they present?
What are 2 examples
Structural brain anomalies- polymicrogyra, lisencephaly
From birth- low tone, reduced fetal movements, arthrogryposis and contractures
Fukuyama. Walker Warburg syndrome
Myotonic muscular dystrophy
What is the inheritance
What is the gene defect -How many causes disease
AD showing anticipation
CTG repeats on ch 20->50=pathological
Myotonic MD What is the classical presentation- - weakness - 3 other systems Is the IQ normal? Will the CK be raised
From childhood- distal weakness with wasting, facial involvement with triangle mouth, high arched palate and tongue wasting
Myotonic- contract and won’t relax
Cataracts
Cardiomyopathy
Endocrine- balding, hypothyroid, adrenal insufficiency
No- mild to mod defect
May be normal or slightly elevated
Myotonic MD
How does the severe congenital form present
How many CTG repeats
Severe weakness from birth requiring resp support.
Involves the face
>1000
Myotonic MD
what is seen on EMG
What might help the weakness?
Dive bomber response- continual discharges
Phenytoin
Nemaline rod myopathy
Type of inheritance
Pathophysiology
AR
Formation of rods within muscles- excessive z band formation and reduced contractility
Nemaline rod myopathy
Typical pattern of disease
Typical facial features
Back features
Severely weak from birth- distal and proximal. Not progressive but complications
Long face with mouth always open- weak masseters. Facial wasting
Scoliosis and thin muscles to the back
Central core disease
pathophysiology
Inheritance
Muscle fibres replaced by large chunks of cytoplasm
AD
Central core disease
Anaesthetic risk
Likely presenting factor
Malignant hypothermia
Congenital hip dysplasia
Anti NMDR encephalitis
Classic presentation
Prognosis
Psychosis with looping movements- face eyes and limbs
Poor-usually listing defects and long admission required
Myotubular myopathy
Pathophysiology
Inheritance
Prognosis
Muscles stop developing from around 16 weeks- myotubular phase
XLD
Poor- most die in weeks
Pompes disease
Deficiency?
Does it have facial features
Maltase
No!
Which myopathy causes “muscle builder children”
Myotonia congenita
What are four CNS causes of neonatal hypotonia
Hypothyroidism HIE malformations T21 Zelwegger syndrome Prader willi Beckwith widemann- hypoglycaemia
Erbs palsy
Pattern of weakness
Inner action involved
Arm abducted fingers flexed
C5/6/7
Klumpe palsy
Pattern of weakness
Innervation involved
Claw hand
C8/T1
Pattern of weakness- Axillary Radial Musculocutaneous Median Ulnar Long thoracic Sciatic Common peroneal Tibial
Badge sensory loss Wrist drop Sensory loss to thumb and forearm, reduced bicep Lost pincer, thenar wasting Claw hand Scapular winging Can’t flex knee, foot drop Foot drop Sole of foot
Charcot Marie tooth disease
Gene
Inheritance
CMT1
AD
Charcot Marie tooth disease
Clinical features
Is the lifespan normal
Unsteadiness then distal weakness. Leg>arms Foot drop and reduced handwriting Claw hand and pes cavus Toe walking Pain and paraesthesia
Yes!
Charcot Marie tooth disease
What investigation is diagnostic
What is found
Sural nerve biopsy- increased collagen and onion bulbs
NF1
What chromosome
What is the inheritance?
17
AD
NF1
What are the 7 diagnostic features
How many do you need to make a diagnosis
1) family history
2) >6 cafe au laits >5mm pre puberty, >15 post
3) axillary/ inguinal freckling
4) lisch nodules
5) plexiform neurofibromas
6) optic nerve gliomas
7) fibrous dysplasia- sphenoid wing or pseudoarthrosis
NF1
3 Neuro complications
Seizures
Macrocephaly
Low IQ
NF1
Renal complication
Cardiac complications
Back complications
Renal artery stenosis and hypertension
Pulmonary stenosis and coarctation of aorta
Scoliosis
What is another syndrome that causes cafe au lait spots
What else do you see
McCune Albright syndrome
Precocious puberty, fibrous dysplasia and hyperthyroid
NF 2
What is the most common tumour type
What are 2 other tumour types
Bilateral acoustic neuromas
Meningiomas, ependymomas
TS
Inheritance
How many lesions are sporadic
AD
50%
TS Skin lesions Heart lesions Where in the brain are tubers Findings in infants
Shagreen patch, ash leaf macules, angiomyolipomas to the face
Rhabdomyomas
Subependymal
Infantile spasms with macules in woods lamp
What is different in how craniopharyngiomas and pituitary adenomas present
Craniopharyngioma- growth slows with visual field defect and headache. DI
Pituitary adenoma- OVERGROWTH with high prolactin
What reduces lamotrigine concentration
What increases it
Carbamazepine
Na valproate
Sturge Weber 3 main features What is the pathophysiology Genetics What is seen on ct
Port wine stain to face, glaucoma and seizures with hemipariesis
Vascular malformations
Sporadic
Railroad calcification
Von hippel Lindau
Types of tumours (4)
Cerebellar hamartomas
Retinal angioplasty
Renal cysts
Phaeochromocytomas
Incontientia pigmenti 4 stages of the rash Characteristic facial feature Gene Do they have seizures and low iq The rash in inverse- what is it called. What is the usual genetic pattern
Vesicular, verrucous, hyperpigmented then hypopigmented
Conical teeth
NEMO
Yes!
Hypomelanosis of Ito. Sporadic or mosaicism
PHACE syndrome
What are the features
Genetics
P- posterior fossa malformations H- large facial haemangioma A- arterial anomalies- aplastic coronary, aberrant L subclavian C- coarctation E-eyes- cataract, glaucoma Unknown
Benign intracranial hypertension
How high does the opening pressure need to be
Give 4 associations
What cool sign might been seen on the head
> 20mmhg
Pregnancy, female, doxycycline, sinusitis
Cracked pot sign
Hydrocephalus
What is the normal pattern of csf flow?
What are the 2 types of hydrocephalus?
Which is the most common subtype
Made in the choroid plexus in lateral ventricle, to the 3rd ventricle via foramen of Munro, to the 4th via acqueduct of silvius
Obstructive=most common
Communicative
Chiari malformations
What happens in type 1. What is it associated with.
When and how does it present
“ type 2
Herniation of cerebellar tonsils.
Syringiomyelia
Teenagers with headaches, neck pains and spasticity
Cerebellum, pons, medulla and 4th ventricle into the cervical canal- myelomeninocoele
Infants with incoordination and spasticity
Structurally what is a dandy walker malformation
What is the associated sign
Agenesis of the corpus callosum and cerebellar vermis, cystic expansion of the 4th ventricle
Translumination
What might a cranial bruit with high output cardiac failure indicate
Valen of glen malformation
Spina Bifida
On amniocentesis what is seen
Where are the majority of lesions found
What is the asymptomatic form called
Raised AFP
Lumbosacral
Spina bifida occulta
Spina bifida cystica
What is the most common subtype?
What is another common subtype? What is it commonly associated with?
Myelomeningocoele
Meningocoele- cord tethering, syrinx and distematomyelia
What is the most common organism found in discitis
Staph aureus
What is found on CT
Subdural haematoma
Extradural haematoma
Crescent shaped
Convex shaped
Ataxia teliengiectasia When does it present How does it present 2 other complications What should be avoided What is the pathognomic blood test
Late childhood Teliengiectasia of eyes and skin, progressive ataxia needing a wheelchair by 10 yrs old Immunodeficiency and tumours Radiation AFP
Fredreich ataxia What is the gene defect What is the inheritance When does it present Features- heart,skeleton,neuro How is it diagnosed
Triplet repeat-GAA- abnormal fraxin AR Later than ataxia teliengiectasia Cardiomyopathy, absent reflexes and scoliosis Ataxia with peripheral neuropathy Chromosomal breakage studies
Abetalipoproteinaemia What is it? Gi presentation Neuro presentation Eye signs What is seen on blood film
Disordered lipid metabolism Steatorrhoea and FTT Ataxia with glove and stocking sensory loss Retinitis pigmentosa Acanthyocytes
Childhood stroke
Most common cause
What syndrome might be present with carotid artery narrowing
What metabolic condition can cause recurrent stroke like episodes
Arteriopathy
Moya moya
MELAS
Which disorder of neuronal migration is miller former syndrome associated with?
Lissencephaly
Which disorder of lipid metabolism can cause ataxia
What is seen on blood film
Abetalipoproteinaemia
Acanthocytes
What does a brown sequard lesion show
Why?
What is the only spinal tract not
supplied by the anterior spinal artery
Ipsilateral loss of motor function, vibration and proprioception
Contra lateral loss of pain and temp
Spina thalamic tract decussates 1/2 levels not in the medulla
Dorsal column- prop and vibration sense
What do the following features on nerve conduction studies tell you ?
Amplitude
Velocity
Repetitive testing
Amplitude- number of fibres
Velocity- myelination
Repetitive testing- NMJ
What is neuronal ceroid lipofuscinosis otherwise called? What is missing How do they present What is the pathognimic investigation What is the treatment
Battens disease
TPP1 enzyme
Language regression and seizures- school age
Photoparoxysmal response at low flash frequencies
Enzyme replacement- cerolipase alfa
What gene is usually associated with central hypoventilation syndromes
What is different about ROHHAD
Phox2B malformations
No “, rapid obesity and polydypsia
What is the general aim of the ketogenic diet (2 things)
What type of meds should they not have
When fasting what should be avoided
Do ketone levels correlate to seizure frequency
High fat, low carb 4:2.
Aim ketones 2.5-5
No liquid meds
No dextrose containing fluids
No
What causes a RAPD
What is seen?
What is it seen in?
Pre chiasmatic lesion of CN 2
Normal constriction when normal pupil illuminated, dilatation of both eyes when abnormal eye illuminated
Optic neuritis
What will show on a left INO
Left eye can’t adduct and right eye will have nystagmus when it abducts
What are the afferent and efferent portions of the dolls eye reflex
Afferent-8
Efferent- 3,4&6
Embryology What is the neural tube derived from When does the brain from What are the three primitive vesicles What forms the hemispheres, hypothalamus, midbrain, cerebellum and medulla
Ectoderm
Cranial part of the neural tube
Week 5
Prosencephalon, mesencephalon, rhombencephalon
Hemispheres- telencephalon Hypothalamus- diencephalon Midbrain- mesencephalon Cerebellum- metaencephalon Medulla- myelencephalon
What is the first visual change to be seen on exam with benign intracranial hypertension. What also occurs.
How high does the opening pressure need to be: sedated. Not obese
Visual field defect
Visual acuity
Opening pressure >25-28
Which cranial nerves are purely motor
How is this remembered?
3,4,6 and 12
All divide by 12
Which cranial nerves are in the
Midbrain
Pons
Medulla
3-4
5-8
9-12
Where does the facial nerve arose from
2nd pharyngeal arch
What visual field defect can you get after epilepsy surgery
Contralateral upper quadrantanopia
Temporal lobe involvement
What visual field defect is associated with occipital lobe damage
Homonymous hemianopia
