Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

FRACP > Neuro > Flashcards

Neuro Flashcards

(118 cards)

Start Studying
1
Q

What are the two major groupings of seizures and what are the differences In the two?

A

Focal- maintained awareness

Generalised- reduced awareness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is the general population risk of epilepsy

How does it increase with 1 seizure? With 2

A

2%
30%
60%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Benign familial neonatal epilepsy
Gene association
What does it encode for
Do they normally resolve?

A

KCNQ2
Potassium channel
Yes!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Febrile convulsions
What age group do they appear in?
What is the rule of 3s
What defines a complex febrile convulsion

A

6 months to 6 yrs
30% recur, 30% have family history and 3% have epilepsy
>15 mins, focal, rescuers within 24 hours

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are 2 more complicated forms of febrile seizures?

A

Generalised epilepsy with febrile seizures plus

Dravet syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Dravet syndrome

Genetic mutation type of seizures

A

SNC1A mutation

Febrile- more prolonged and frequent that progress to myoclonic seizures with developmental delay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q 
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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

When can AEDs be stopped?

What is the recurrence rate

A

2 yrs after last seizure

30-40%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is temporal lobe epilepsy likely to show

A

A focus e.g. tumour, prev meningitis or prev febrile convulsions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is Todd’s pariesis

A

Focal motor seizure with a prolonged post ictal phase- can last days!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Severe focal epilepsy
What is panyiotopoulos syndrome
What is seen on eeg?

A

Focal seizures with vomiting. Can have migraines or auras

Occipital spikes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

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

A

Early myoclonic encephalopathy
Metabolic problem
Burst suppression

Otahara syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Severe generalised epilepsy
West syndrome- what is the triad
What gene might be involved if ambiguous genitalia is seen?

A

Hypasrrhythmia, developmental delay and reduced iq- either pre or post
ARX gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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?

A

Retinal pits or lucencies
Agenesis of the corpus callosum
Infantile spasms
XLD. usually fatal in males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is seen in a progressive myoclonic epilepsy?

What type is seen in children?

A

Dementia and seizures

Lofara disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Landau kleffner syndrome
How does it present?
What gene is associated. What is the other presumed cause?
What is seen on eeg

A

Regressed language skills and verbal agnosia in a prev well child
Grin2A or autoimmune
Normal or high spikes in rem sleep or continuous spikes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Pyrodoxine deficient seizures

How do they present
What might be seen in utero
What is tested
How are they treated

A

Progressive seizures from infancy
Increased fetal movements
Urine or serum alpha aminoadipic semialdehyde (Aasa)
Give B6!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q 
Na valproate 
Side effects
Is it a p450 inducer
What happens with lamotrigine
When is it contraindicated
A

Weight gain, pancreatitis and low plt
No!
Increased risk of SJS
Under 2s

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Vigabatrin

Side effects

A

Weight gain and retinopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q 
Carbamazepine 
Side effects 
HLA association
What happens with lamotrogine
What 2 seizure types is it contraindicated in
A

Rash and leukopenia
1502- increased risk for SJS
Increased effect of carbamazepine
Absence and JME

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Levetiractam
Side effects
What neurotransmitter does it bind to

A

Fatigue and behaviour change

Synaptic vesicle protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Topirimate | Side effects
Weight loss | Renal stones
26
Phenytoin Side effects Is it a p450 inducer?
Rash gum hypertrophy and megaloblastic anaemia | Yes!
27
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
28
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
29
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
30
Myaesthenia Gravis What is the most common cause What happens
Autoimmune | Antibodies to acetylcholine receptors on the post synaptic membrane
31
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!
32
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
33
Myaesthenia What is a myaesthenic crisis How should it be treated
Sudden increased weakness | Anticholinesterases and resp support
34
Myaesthenia gravis What antibodies are found How many positive in children
Antiacetylcholine receptor-IgG | 50% only
35
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
36
What poisoning may mimic myaesthenia | What other autoimmune disease might MG associate with
Organophosphates | Hypothyroidism
37
``` 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
38
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 ```
39
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 ```
40
``` 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
41
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
42
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
43
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
44
Anti MOG disease How does it present? Prognosis?
Relapsing ADEM or NMo less rarely | Good prognosis- much better than aquaporin 4
45
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
46
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
47
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!
48
Duchennes What other body system is likely to be involved When is treatment needed? Is the IQ normal?
Heart- cardiomyopathy When EF<55% No!
49
Duchennes | What medication is proven to be useful?
Prednisolone!
50
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
51
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
52
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
53
Limb girdle How does it present What is the inheritance
Back pain= lumbar lordosis then progressive weakness becoming more distal AR
54
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
55
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
56
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
57
``` 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
58
Myotonic MD How does the severe congenital form present How many CTG repeats
Severe weakness from birth requiring resp support. Involves the face >1000
59
Myotonic MD what is seen on EMG What might help the weakness?
Dive bomber response- continual discharges | Phenytoin
60
Nemaline rod myopathy Type of inheritance Pathophysiology
AR | Formation of rods within muscles- excessive z band formation and reduced contractility
61
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
62
Central core disease pathophysiology Inheritance
Muscle fibres replaced by large chunks of cytoplasm | AD
63
Central core disease Anaesthetic risk Likely presenting factor
Malignant hypothermia | Congenital hip dysplasia
64
Anti NMDR encephalitis Classic presentation Prognosis
Psychosis with looping movements- face eyes and limbs | Poor-usually listing defects and long admission required
65
Myotubular myopathy Pathophysiology Inheritance Prognosis
Muscles stop developing from around 16 weeks- myotubular phase XLD Poor- most die in weeks
66
Pompes disease Deficiency? Does it have facial features
Maltase | No!
67
Which myopathy causes “muscle builder children”
Myotonia congenita
68
What are four CNS causes of neonatal hypotonia
``` Hypothyroidism HIE malformations T21 Zelwegger syndrome Prader willi Beckwith widemann- hypoglycaemia ```
69
Erbs palsy Pattern of weakness Inner action involved
Arm abducted fingers flexed | C5/6/7
70
Klumpe palsy Pattern of weakness Innervation involved
Claw hand | C8/T1
71
``` 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 ```
72
Charcot Marie tooth disease Gene Inheritance
CMT1 | AD
73
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!
74
Charcot Marie tooth disease What investigation is diagnostic What is found
Sural nerve biopsy- increased collagen and onion bulbs
75
NF1 What chromosome What is the inheritance?
17 | AD
76
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
77
NF1 | 3 Neuro complications
Seizures Macrocephaly Low IQ
78
NF1 Renal complication Cardiac complications Back complications
Renal artery stenosis and hypertension Pulmonary stenosis and coarctation of aorta Scoliosis
79
What is another syndrome that causes cafe au lait spots | What else do you see
McCune Albright syndrome | Precocious puberty, fibrous dysplasia and hyperthyroid
80
NF 2 What is the most common tumour type What are 2 other tumour types
Bilateral acoustic neuromas | Meningiomas, ependymomas
81
TS Inheritance How many lesions are sporadic
AD | 50%
82
``` 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
83
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
84
What reduces lamotrigine concentration | What increases it
Carbamazepine | Na valproate
85
``` 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
86
Von hippel Lindau | Types of tumours (4)
Cerebellar hamartomas Retinal angioplasty Renal cysts Phaeochromocytomas
87
``` 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
88
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 ```
89
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
90
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
91
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
92
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
93
What might a cranial bruit with high output cardiac failure indicate
Valen of glen malformation
94
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
95
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
96
What is the most common organism found in discitis
Staph aureus
97
What is found on CT Subdural haematoma Extradural haematoma
Crescent shaped | Convex shaped
98
``` 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 ```
99
``` 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 ```
100
``` 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 ```
101
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
102
Which disorder of neuronal migration is miller former syndrome associated with?
Lissencephaly
103
Which disorder of lipid metabolism can cause ataxia | What is seen on blood film
Abetalipoproteinaemia | Acanthocytes
104
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
105
What do the following features on nerve conduction studies tell you ? Amplitude Velocity Repetitive testing
Amplitude- number of fibres Velocity- myelination Repetitive testing- NMJ
106
``` 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
107
What gene is usually associated with central hypoventilation syndromes What is different about ROHHAD
Phox2B malformations | No “, rapid obesity and polydypsia
108
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
109
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
110
What will show on a left INO
Left eye can’t adduct and right eye will have nystagmus when it abducts
111
What are the afferent and efferent portions of the dolls eye reflex
Afferent-8 | Efferent- 3,4&6
112
``` 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 ```
113
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
114
Which cranial nerves are purely motor | How is this remembered?
3,4,6 and 12 | All divide by 12
115
Which cranial nerves are in the Midbrain Pons Medulla
3-4 5-8 9-12
116
Where does the facial nerve arose from
2nd pharyngeal arch
117
What visual field defect can you get after epilepsy surgery
Contralateral upper quadrantanopia | Temporal lobe involvement
118
What visual field defect is associated with occipital lobe damage
Homonymous hemianopia

FRACP (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions