Neurology Work Book 1 Flashcards
1
Q
Diagnostic Criteria Tuberous Sclerosis
A
SKIN (hypo-pigmentation, ashleaf spots, adenoma sebaceum), TEETH (enamel pits), EYE (choroidal hamartomas, hypo-pigmented iris, CNS (tubers, astrocytomas), CVS (rhabdomyomas, LUNGS (fibrosis)
2
Q
KEARNE SAYRE
A
Mitochondrial myopathy. >10yoa.
EYE - Ophthalmoplegia, ptosis, loss peripheral vision, retinitis pigments
Cardiac conduction abnormalities.
3
Q
LOWES
A
Oculocerebrorenal syndrome X-linked recessive disorder congenital cataracts, hypotonia and areflexia, proximal tubular acidosis
4
Q
MENKES
A
X-linked recessive defect copper absorption Hypotonia Seizures Kinky white brittle hair Optic atrophy
5
Q
MOBIUS
A
Hypoplasia of brainstem nuclei - CN 6 and 7 paralysis Can't look side to side Can't close eye lids (corneal erosions) Difficulty swallowing Dental abnormalities and cleft lip
6
Q
TAY SACHS
A
Lysosomal storage disorder Normal until 6 months Macrocephaly Increased tone and reflexes, retinal cherry red spot NO hepatosplenomegaly.
7
Q
FRIEDREICHS ATAXIA
A
GAA expansion (frataxin gene) 120+ Ataxia Nystagmus Up-going planters Intention tremur, past pointing Areflexia Pes cavus Heart problems - cardiomyopathy Diabetic.
8
Q
ChARCOT MARIE TOOTH
A
slow progressive,
glove stocking weakness and sensory loss,
pes cavus
9
Q
what are the layer between the skin and the brain
A
SCALP DAP B Skin Connective tissue Aponeurosis Loose connective tissue Periosteum and Bone
Dura
Arachnoid
Pia
Brain
10
Q
what are the features of a subgaleal
A
develop with birth trauma (vacuum)
usually develop in 72 hrs of trauma
may be associated with fracture
between aponeurosis and periosteum
11
Q
where is an extradural haemorrhage
A
between dura and the bone
does not cross suture lines
can develop 3rd nerve palsy due to uncle herniation
12
Q
where is a cephalohaematoma
A
periosteum and bone
13
Q
where is a subarachnoid haemorrhage
A
between arachnoid and pia
14
Q
where is a subdural
A
between dura and arachnoid
15
Q
What is the marcus gunn phenomenon
A
shared innervation between the 5th and 3rd CN so that when you suck you blink
16
Q
how much does folate reduce the risk of neural tube defects
A
85 % 5mg
35% 0.5mg
17
Q
what are neural tube defects associated with
A
chiari type 2 malformations
18
Q
what is the most common type of neural tube defect
A
myelomeningocele 94% - meningis and spinal cord
19
Q
What investigations may be abnormal in neural tube defects
A
high AFP and Ach
20
Q
what are the complications of neural tube defects
A
hydrcephalus, tethered cord, joint deformities (due to muscle imbalance), pressure sores, neurogenic bladder
21
Q
what is the most common cause of death in patients with neural tube defects
A
renal failure
22
Q
what is the treatment for areflexic bladder
A
alpha adrenergic medications and ICC
23
Q
what is the treatment for spastic bladder
A
anti-cholinergics, botox
24
Q
what is a dandy walker malformation
A
agencies of the cerebellum, enlarged 4th ventricle. it is associated with PHACES syndrome - post fossa abnormality - haemangioma - AVM - cardiac defects - eye abnormalities - sternal cleft
25
what is macrocephaly
head >97th centile
| seen in Sotos, NF, TS, MSUD, tay-sachs, MPS, leukodystrophies, Alexander syndrome
26
when does the anterior fontanelle close
10-24 months
27
what are the causes of early fontanelle closure
microcephaly, carniosynostosis, hyperthyroidism, hypoparathyroidism
28
how does an uncal herniation present?
compression midbrain, CN3
unilateral dilated pupil
hemiparesis
homonymous hemianopia
29
how does a central herniation present?
pupils small reactive
decorticate, de-cerebrate
Chyne-Stokes respiration
30
How does cerebellar herniation through the foramen magnum present
dilated pupils
CN 6 palsy
apnoea and bradycardia
31
management of raised ICP?
intubation, hyperventilation
phenobarb sedation
head nursed up
mannitol, acetazolamide, hypertonic saline
32
Causes of benign intra-cranial hypertension
GH therapy, hypoparathyroidism, obesity, hypophosphataemia, Addisons, haemolysis, sinus thrombosis.
33
what would you test for in suspected CSF leak?
B2-transferrin
34
What are the differences between papiloedema and papillitis
Papiloedema is bilateral, no pain, colour vision normal, peripheral constriction.
Papillitis is unilateral, pain on movement, poor colour vision and central scotoma.
35
what are the causes of papillitis
MS, EBV infection, metabolic causes, toxic causes
36
what is internuclear ophthalmoplegia
impaired adduction due to damage of medial longitudinal fasiculus (child - glioblastoma, teen - MS)
37
What are the causes of ptosis with normal pupils
myasthenia, thyrotoxic myopathy
38
DUANES SYNDROME
CN6 affected (usually unilateral), congenital defect, can't look laterally
39
RAMSAY HUNT SYNDROME
VZV geniculate ganglion reactivation, facial palsy, deafness, vertigo, vesicles over ear
40
What does a facial nerve palsy cause?
facial paralysis (if forehead is spared = UMN lesion)
sensitivity to sound,
loss taste anterior 2/3 tongue
41
what medications can be used to prevent a migraine?
```
beta-blockers (propranolol),
calcium channel blocker (amlodipine),
NSAIDS,
Triptans (5HT1),
TCA,
Pizotifen (5HT2)
```
42
what family history is common in migraine headache?
history of maternal parent having migraines
43
What medications can you use for an acute migraine?
```
paracetamol,
NSAIDs,
caffeine,
triptans
ergotamine
```
44
what are the features of a cluster headache?
```
unilateral peri-orbital
<1 hr
associated with lacrimation
teenager boys
precipitated by alcohol and drugs
```
45
when should you avoid using triptans and ergotamine for migraine?
in any hemiplegic or basilar artery migraine (vasoconstriction)
46
what is the principle organism in discitis? what age does discitis occur?
staph aureus
| age 1-3 years
47
when will spinal injury give you a neurogenic bladder
above S2
48
what is brown-sequard spinal cord syndrome and when does it occur?
unilateral
weakness, proprioception and vibration loss ipsilateral
loss pain and temp contralateral
caused by neuroblastoma, sarcoma
49
what is the most common organism in brain abscess? who is most at risk of brain abscesses?
what is the management?
streptococci
children congenital heart disease
cefotaxime + metronidazole +/- vanc
50
how does grey matter degeneration present?
seizures,
dementia
encephalopathy
examples - MPS, Gaucher, Tay-sachs, Rett, Mitochondrial
51
how does white matter degeneration present?
spasticity, ataxia, optic atrophy, peripheral neuropathy
| example - leukodystrophy, krabbe
52
what are the causes of a cherry red spot?
```
tay sachs
sandhoff
neimann pick
metachromatic leukodystrophy
farber lipogranulomatosis
sailidosis
```
53
RETT syndrome
```
MECP2 gene mutation
normal until 6 months
regression
microcephaly
hand clapping movements
```
54
KRABBE
```
lysosomal storage disorder, demyelination
galactocerebrosidase deficiency
normal until 6 months
spasticity
hyperreflexia
```
55
METACHROMIC LEUKODYSTROPHY
ARSA gene mutation
Arylsulfatase A defciency
normal until 2 years old
"ant and post" changes on MRI
56
ADRENOLEUKODYSTROPHY
```
ABCD1 gene
peroxisomal disorder
accumulation VLCFA
normal until 5-15 years
regression, ataxia, pigmentation and adrenal insufficiency
posterior changes on MRI
```
57
what are the sphingolipidoses?
```
Fabry (x-linked; alpha galactosidase)
Metachromatic Leukodystrophy
Krabbe disease (galactocerebrosidase)
Gaucher (glucocerebrosidase)
Neimann Pick (sphingomyelin)
Tay sachs (hexosamidinase)
```
58
LEIGHS disease
```
pyruvate dehydrogenase def
high CSF pyruvate and lactate
<2years
FTT and feeding problems
loss extraocular movements
hypotonia, ataxia
seizures
```
59
what flexes the DIP joints?
flexor digitorum profundus
60
what flexes the PIP joints?
flexor digitorum superficialis
61
ALEXANDER SYNDROME diagnosis
macrocephaly
increased signal white matter frontal lobes
eosinophilic hyline bodies
62
CANAVAN SYNDROME
macrocephaly
rapidly progressive hypotonia 3-6months
N-acetyl aspartic acid in blood
63
PELIZAEUS - MERZBACHER
X-linked
similar to metachromic leukodystrophy
PLP1 mutation
nystagmus/roving eye movements
64
what is the function of the median nerve
forearm flexion, thumb movements, pronation
65
what does damage to the radial nerve cause
wrist drop
66
what does a cerebrate posture indicate
E = extension
| Brainstem lesion
67
what does decorticate posture indicate
cerebrum / cervical and spinal tract lesion
68
SMA gene and types of SMA?
```
SMN1 and SMN 2 Chromosome 5Q
type 1 (WernigHoffman) - never sit - die age 2 (MOST COMMON) - splicing defects
type 2 - never walk - die age 10 - missense mutation
type 3 - walk - shoulder girdle problems
type 4 - adult onset
```
69
treatment for SMA
salbutamol and sodium valproate - increase SMN 2 action
70
What is the most common mutation Charcot marie tooth?
CMT1a
71
what infection causes Guillian barre most commonly?
campylobacter
72
what antibodies can be high in gillian barre?
anti GM1 antibodies
73
What is Miller Fischer variant Guillian Barre?
ataxia, ophthalmoplegia, areflexia
| AntiGQ1b antibodies
74
how can you distinguish Guillian barre and CIDP?
GBS has more rapid onset
75
how many babies of mother with myasthenia graves will be affected?
10-20%
76
if a mother has already had a baby affected with myesthenia gravis what is the chance the next baby will be affected?
75%
77
what is the treatment for myasthenia gravis?
acetylcholine esterase inhibitor - pyridostigmine
78
how does botulism present?
children 2 weeks to 6 months
acute constipation and descending weakness
facial palsy
79
CENTRAL CORE DISEASE
RYR mutation
tall, slim
proximal weakness
malignant hypertension associated
80
what is the best treatment for duchenne muscular dystrophy
corticosteroids
81
what is the genetic defect in duchenne muscular dystrophy and backers muscular dystrophy
Xp21
DMD = frameshift mutation
Becker = in frame deletions
82
MYOTONIC DYSTROPHY
CTG triplet repeat
>50 repeats = disease
mutation in muscle Chloride channel, insulin receptor and cardiac trop T
hypogammaglobulinaemia
distal weakness > proximal weakness
also get cataracts and cardiac conduction defects
83
what is the risk of MS with optic neuritis?
30%
84
what is the risk of MS if a first degree relative has it?
5%
85
where does traverse myelitis most commonly occur in children?
thoracic area - affects lower limbs, bladder and bowel retention
86
what is the risk of MS after transverse myelitis?
7%
87
what is the risk of major congenital malformations with (1) valproate and (2) other AEDs
(1) 10% and (2) 5% - greatest risk with polytherapy and high levels during first trimester.
88
Which anti-epileptic drugs are associated with depression and psychosis?
Vigabatrin and Lamotrigine
89
what is the best anti-epileptic for liver failure?
Levetiracetam
90
What anti epileptics are renally excreted?
Gabapentin, Vigabatrin, Topiramate, Levetiracetam, Zonisamide
91
How does valproate and carbamazepine interact?
Valproate increases carbamazepine's toxic metabolite epoxide
92
what anti-epileptic can cause kidney stones
topiramate
93
what anti-epileptic is used in tuberous sclerosis and how does it act
vigabatrin - acts by irreversible inhibition of GABA transaminase
94
what is first line treatment of infantile spasms?
ACTH
95
what anti-epileptics block T-type calcium channels?
valproate, zonisamide, and ethosuximide
96
how does lamotrigine act?
blocks voltage gated calcium channels and sodium channels
97
what anti-epileptics block sodium channels?
Voltage-gated sodium channels are blocked by felbamate, valproate, topiramate, carbamazepine, oxcarbazepine, lamotrigine, phenytoin, rufinamide, lacosamide, and zonisamide
98
what is the general principles in mechanism of actions of anti-epileptic drugs?
drugs that block sodium channels works against partial seizures
drugs that block calcium channels work against generalized seizures
99
how does levetiracetam work?
blocks calcium channels, excreted by kidneys and can be used with OCP
100
what is the risk of recurrence of an afebrile seizure
42% but decreases to 25% with a normal EEG
101
Benign familial neonatal convulsions
autosomal dominant potassium channel defects (KCNQ2)
day 2-3 of life
usually resolves
102
Feature of Lennox Gastaut syndrome
2-8 years
multiple seizure types
slow <2.5Hz spike and wave
Treatment - ketogenic diet, Rufinamide, lamotrigine and topiramate
103
What is Dravet Syndrome?
```
Type of generalised epilepsy with febrile seizures.
Mutation SCN1A
developmental arrest
Treated with ketogenic diet, Rufinamide
AVOID carbamazepine and lamotrigine
```
104
A child wakes at night and has facial twitching, throat tingling. He is distressed by this. What type of epilepsy might present like this?
Rolandic epilepsy
Characterised on EEG as having centrotemporal spikes
Treated with carbamazepine
105
What does childhood absence epilepsy EEG look like
3 Hz spike wave
106
what should you avoid in juvenile absence epilepsy?
ethosuximide and carbamazepine
107
How does juvenile myoclonic epilepsy present
early morning myoclonic jerks
4-5 Hz spike wave
Avoid carbamazepine
