Neurology Flashcards
1
Q
Which condition is treatable by enzyme replacement therapy with recombinant human acid d-glucosidase?
A
POMPE disease
2
Q
To which category of base do the DNA bases cytosine and thymine belong?
A
PYRIMADINE
The others are purine
3
Q
What is the mechanism of the prokinetic effect of erythromycin?
A
motilin receptor agonisdt
4
Q
Inheritance pattern for complete androgen insensitivity syndrome?
A
X linked recessive
5
Q
What volume of air doesn’t expel Co2
A
Physiologic dead space.
6
Q
What is the neocortex
A
Outermost part of the cerebral hemispheres, involved in higher functions ie thought and language
7
Q
Two main cell types in neocortex?
A
Pyramidal cells
Non-pyramidal cells: excitatory= glutamate and inhibitory= GABA
GABA says no
8
Q
Which nerve supplies anterior 2/3 of tongue
A
Facial
9
Q
Which nerve supplies post 1/3 of tongue
A
Glosspharyngeal
10
Q
What layer does the brain originate from and when is the neural plate formed
A
Ectoderm, thickens to form neural plate at 3 weeks
11
Q
Direction of neural tube closure
A
Cranio-caudal
12
Q
What embryological structure forms the hindbrain
A
HMF- RMP or think of Hannah’s drawing
H- R
Rhombocephalon
13
Q
What embryological structure forms the midbrain
A
HMF- RMP
M-M
Mesencephalpon
14
Q
What embryological structure forms the forebrain
A
HMF-RMP
F-P
Forebrain= proscephalon
15
Q
What are the six neurotransmitters of the brain?
Hint: Think of the medications used
A
Glutamate
GABA
Serotonin
Dopamine
Norepinephrine
Endorphines
16
Q
How does the Botulism toxin cause paralysis?
A
AcH affected.
Toxin binds to high affinity recognition sites and reduces AcH release so blocks downstream pathway resulting in neuromuscular blockade
17
Q
Definition of Epilepsy
A
Two unprovoked seizures >24 hours apart or one unprovoked seizure with probability of another seizure at general recurrence risk
18
Q
What are 3 features that separate syncope from seizure?
A
- Vomiting
- Gradual onset
- Shallow/slow breathing
19
Q
What is the % of kids that will grow out of epilepsy?
A
50%
20
Q
What is defined as drug resistance epilepsy and what % of patient are drug resistant?
A
failed 2 mediations
~25%
21
Q
When is the incidence and prevalence of epilepsy the greatest?
A
Infancy
22
Q
What epilepsy?
Left centrotemporal spike
A
Benign rolandic epilepsy
23
Q
6 features of a simple febrile convulsion
A
- 6mo-6yo
- Preceeding fever >38.5
- GTC
- <10mins
- One/illness
- No CNS infection.
24
Q
6 features of complex FC and what proportion of FC are complex?
A
25% are complex.
- Prolonged ~>10-15mins
- Status
- Focal seizures
- Recurrent in 24 hours
- Post-ictal abnormalities ie Todds Paresis
25
What % of kids with febrile convulsion have family Hx of the same?
25%
26
Risk of febrile convulsion in sibling vs twin of a child affected?
Sibling/dizygotic = 7-10%
Twin: 30-50%
27
What % of kids have recurrence of febrile convulsions overall and within 12 months?
1/3 overall
75% within 12 months
28
5 risk factors for febrile seizure recurrence and % risk overall with 0, 2 and 3- RFs
1. Age <15 months
2. Epilepsy in first degree relatives
3. Febrile seizure in first degree relative
4. Frequent febrile episodes
5. First complex febrile seizure.
0 RF= 10% (same as sibling)
2= 20-50%
3-5 = 50-100% recurrence
Different to epilepsy risk
29
What % of kids with febrile convulsion will go onto develop epilepsy? And what are 4 risk factors that increase the risk of this?
3-4% only.
Increased risk if:
- complex Febrile convulsion
- <12 months
- prior CNS problems/developmental
- Family Hx of epilepsy in first degree relative
30
In the new classification, what is the new term for benign epilepsies?
Self-limited
31
Which epilepsy is this:
4-9 yo
Absence seizures with automatisms
3Hz spike and wake
Childhood absence epilepsy
32
First line treatment for Childhood absence epilepsy
Ethosuximide
33
Typically, what % of kids with childhood absence seizures resolve/become seizure free?
80%
34
What epilepsy type?
8-24yo
Circadian pattern seizures: occurs on awakening
Precipitators: photic stimulation, sleep deprivation, cant brush hair
Juvenile myoclonic epilepsy.
'Think teenagers on their phone (photic), not sleeping'
35
Treatment for Juvenile myoclonic epilepsy
Remember this is the teenager on a phone.
First line: Sodium valproate, but use lamotrigine or Keppra in young females.
36
Which medication (anti-epileptic) makes myoclonic seizures worse
Carbamazepine (also Vigabatrin and Oxcarbaezepine)
37
Mechanism of action of Carbemazepine
Na channel blockker
38
% relapse in juvenile myoclonic epilepsy if medicatinos ceased
90%! So lifelong therapy
39
What seizure syndrome is this:
Hypsarrythmia
Brief tonic spasms
4-8 month old
Developmental arrest
Infantile Epilepsy Spasms Syndrome (Prev West syndrome)
40
Treatment for West Syndrome? (2 drugs)
High dose Pred and Vigabatrin
Vigabatrin particularly good if TS
41
Genes associated with benign familial neonatal epilepsy.
Think K for Kanxa
KCNQ2 and 3
Onset by 6 months
42
Which gene mutation, known to cause benign familial neonatal epilepsy can also lead to epileptic encephalopathies?
KCNQ2
'Hx of epilepsy in the family and now this kid wont stop ceasing. '
43
What seizure syndrome/epilepsy is this:
EEG: burst suppression patterm
neonatal period
Tonic seizures
Early infantile encephalopathy
Bad prognosis, number of reasons
Essentially Ohtahara which is a group of disorders with infantile epileptic encephalopathy with TONIC seizures
44
Name the epilepsy syndrome:
D1- 7 months of age
Motor and autonomic features
Progressive hypotonia/pyramidal/extrapyramidal features
Death within first year
Epilepsy in Infancy with Migrating focal seizures
45
Name the epilepsy disorder:
Start at 5-6 months of age
Prolonged febrile convulsion
Prolonged unilateral or GTC
Psychomotor slowing after 1 yaer
Sodium channelopathy
Dravet.
46
What drug to AVOID in Dravet syndrome
Anything that blocks sodium channels so:
Lamotrigine, Carbamazepine, phenytoin
47
One gene mutation commonly associated with Dravet
SCN1A
Kids with Dravet are the FIRST to get admitted to SCN
48
Name the epilepsy:
2-5yo
Jerk and drop seizures
Infrequent tonic seizures in sleep
NORMAL sleep architecture on EEF
Epilepsy with myoclonic-atonic seizures
(Sightly different to LGS in terms of sleep)
49
What transporter def is important to check for epilepsy with myoclonic-atonic seizures
GLUT-1
50
What epilepsy is this:
3-5yo
Tonic, atypical absence, atonic, myotonic seizures
EEG: Slow spike and wave
Lennox-Gastuat
Bad prognosis
Paroxysmal fast activity in sleep
51
What seizure syndrome
Normal kids, start losing acquired language skills
Episodic aphasia
Age 2-9yo
Noctural and diurnal seizures
Landau-Kleffner
Landau- Lose language
52
Remission age for SEIZURES in Landau Kleffner Syndrome
Adolescence
Language deficit independent of this
53
Name the epilepsy syndrome
2-13 years
60-80% when alseep or on wakening
Motor-face oropharyngeal mms
Centerotemporal spikes
Self-limited epilepsy with centerotemporal spikes
This covers benign focal epilepsy of childhood, benign rolandic epilepsy
54
What can't you treat benign focal epilepsy of childhood with?
Carbemazepine!
55
Name the epilepsy syndrome
EEG: Occipital spikes
Vomiting at night (autonomic seizures)
Peak 3-6 years
Panayiotopoulos Syndrome
56
Name the epilepsy:
Hippocampal sclerosis
Epigastric aura and impaired awareness
Precipitated by stress, sleep deprivation, hormonal changes
Temporal lobe epilepsy
(Mesial temporal lobe epilepsy wit Hippocampal sclerosis)
56
Name the epilepsy:
Hippocampal sclerosis
Epigastric aura and impaired awareness
Precipitated by stress, sleep deprivation, hormonal changes
Hint: What the patient had
Temporal lobe epilepsy
(Mesial temporal lobe epilepsy wit Hippocampal sclerosis)
57
Most common cause of neonatal seizures
HIE
58
First line anti-epileptic for neonatal
Phenobard
59
Name the type of seizure/epilepsy syndrome:
Defect in a-aminoadipic semialdehyde dehydrogenase
Neonate
Seizures very soon after birth
Pyroxidine dependent epilepsy
(Increased AASA in plasma)
60
Name the syndrome
Early <3 months, infantile tonic epilepsy Encephalopathy
Developmental regression
EEG: Burst suppression pattern
Ohtahara syndrome
61
Name 2 broad spectrum drugs used for treatment of seizures?
Sodium Valproate
Benzodiazipine (work for all seizure types)
62
How does phenytoin work?
Inhibits repetitive firing of Na-dependant action potentails.
63
Side effects and chronic toxicity from phenytoin
Gingival hypertrophy, hirsutism, folate malabs, serum sickness
64
How does Carbamazepine work?
Blocks voltage gated sodium channels
65
What other drugs does Capebazepine interact with
Phenytoin and Phenobarb.
Induces liver enzyme --> lowers AED levels
66
Side effects of Carbamazepine
SJS in Hans Chinese HLA1502
Decreased action of OCP and Warfarin
CNS, low Na and WCC in toxicity
*Exacerbates absence/myoclonic seizures*
67
Can you IM Phenytoin?
NO! Crystallises
68
Where are the majority of neutrophils when not fighting an infection
Bone marrow
69
Mechanism of action of Oxcarbazepine?
Coverts to MHD to then block sodium channels
70
Side effects of Oxcarbazepine
essentially same as carbazepine ex hyponatraemia.
Worsens absence seizures and myoclonus
71
Mechanism of action for sodium valproate?
Blocks Na channels +/- GABAergic action
72
Side effects of sodium valproate
CNS side effects
Weight gain, hair loss, GIT disturbance, PCOS
Teratogenic
Pancreatitis
73
Mechanism of action for Benzos
Enhance GABA action at synapse.
Think- GABA= No, so stop activity.
74
Side effects of benzos
The usual- drooling, sedation.
***Can cause tolerance and tachyphylaxis ***
75
How does Ethosuximide work
Enhancement of non-GABA mediated inhibition
Partial antagonist of calcium channels
76
Side effect of Ethosuximide?
Bone marrow suppression
77
How does Lamotrigine work
Blocks sodium channels
78
What medication does Lamotrigine interact with?
Sodium Valproate
Causes increased levels!
79
Side effects of Lamotrigine
can get skin hypersensitivity in rare cases
Tremor in toxicity.
80
Mechanism of action for Vigabatrin
Non competitive inhibition of GABA transaminase, stops breakdown of GABA
81
Side effect of Vigabatrin
*Hint fat bats*
Exacerbate myoclonic seizures
Behaviour disorder
Psychosis
Weight gain
Retinopathy
FAT BATS WHO ARE CRAZY AND CANT SEE AT NIGHT
82
Medication for infantile spasms (First line)
Vigabatrin
83
Mechanism of action for Topiramate
Blocks Na channels, enhances GABA, carbonic anhydrase inhibition.
This is why is has multi layered activity
84
Adverse effects of Topiramate
Cognitive speech, nephrolithiasis, weight loss
85
Mechanism of action for Leveteracitam
SVA2 binding to modulate NT release
86
Side effect of Keppra
Behaviour disorder, psychosis, sleep disturbance
87
Which drugs worsen absence seizures?
1. Carbamazepine
2. Vigabatrin
3. Benzos
4. Barbiturates
88
Which drugs worsen myoclonic seizures? (3)
1. Carbamazepine
2. Vigabatrin
3. Gabapentin
89
Which two medications are associated wit the least teratogenic risk?
Lamotrigine
Leveteracitam
90
Which 5 drugs are predominantly cleared by the liver?
1. Diazepam
2. Phenytoin
3. Carbamazepin
4. Sodium valproate
5. Lamotrigine
91
Which 2 drugs are predominently cleared via kidneys
Topiramate and Gabapentin
92
What should all children with dystonia recieve?
(note- not secondary to medication)
Trial of L-Dopa, could be Dopa-responsive dystonia.
93
What is dopa responsive dystonia
Hereditary progressive dystonia with marked diurnal variation. occurs in first decade of life
Might present at CP with diurnal variation
94
What happens in movement disorders overall with stress, anxiety and sleep
Movements increase with activity, stress and anxiety.
Usually absent in sleep.
95
Most common cause of acute cerebellar ataxia and presenting age?
2-5, commonly post viral.
26% Varicella and 52% other viral illenss
96
Definition of pleocytosis
Increased WCC in CSF esp.
97
Course/prognosis of acute cerebellar ataxia
90% recover within two weeks.
NO long term sequelae
benign and self-limiting disease
98
Is there encephalopathy in acute cerebellar ataxia?
No
99
Of the leukodystrophy, which one is most common?
X-linked adrenoleukodystrophy
100
What are the white matter changes in X-linked adrenoleukodystrophy
occipital region
101
White matter changes in metachromatic adrenoleukodystrophy?
White matter changes around both ventricles.
Mental retardation, spastic ataxia
102
Common presentation for leukodystrophy- hint 2 features
mental retardation
spastic ataxia
103
Basic pathophys for Fredereich's ataxia?
Mitochondrial dysfn due to mutation in the gene that produces a protein which helps mitochondrial ATP production.
Also too much iron in mitochondria so prone to oxidative damage.
104
Gene, chromosome and protein for Fredereich's Ataxia
Chromosome 9, FXN gene to produce Frataxin
105
Triplet repeat in Fredereichs ataxia
GAA
FXN gene, GAA repeat, Hi 9
FGH
106
What is the commonest inherited ataxia
Fredereich's ataxia
107
Inheritance for Fredereich's
Autosomal recessive
108
Age group for Fredereich's ataxia
Older kids 5-15yo (vs ataxia telangiectasia which is iin younger)
109
Gene and age of presentation for ataxia telangiectasia
ATM gene, age 1-4yo
Gene produces a kinase important in DNA repair cascade therefore mutation= chromosomal instability
110
Inheritance for ataxia telangiectasia
Aut recessive
111
Features of ataxia telangiectasia: 5
1. Ataxia
2. Telangiectasia
3. Immunodef
4. Hypogonadism
5. Cancer predisposition: VERY sensitive to chemo
112
Which hereditary ataxia gives you cardiomyopathy? And which type
Fredereich- HYPERTROPHIC.
Fredereich is a big guy who has no ATP so gets big heart?
113
Long term prognosis/sequelae for Ataxia telangiectasia
Growth retardation, wheelchair bound by teens.
40% get cancer (lymphoma/leukemia)
114
Inheritance for spinocerebellar ataxia
Autosomal dominant, triplet repeat
from 1-28
115
Clinical features of spinocerebellar ataxia
Ataxia, optic atrophy, optalmoplegia, dementia, peripheral neuropathy
116
5 features of CENTRAL hypotonia
1. Profound axial hypotonia
2. Lethargy
3. Obtundation
4. Brisk tendon reflexes
5. Fisting of hands
117
5 features or clues to PERIPHERAL hypotonia
1. Weakness
2. Depressed/absent tendon reflexes
3. Fasciculations
4. Respiratory distress
5. Alert child.
118
What two infectious cause disorders of the anterior horn cell?
Enterovirus
Polio
119
Two risk factors for PRES?
Chemotherapy and hypertension
120
An antagonist of AMPA receptors that has a long half-life.
Perampanel
121
Skull with copper beaten appearnce
Craniosynostosis - appearance due to long term raised ICP
122
Name the 4 autoantibodies for T1DM
IAA: 0-2 years
GAD: >2 yo
IA2
ZNTA
123
Grunting increases which parameter on spirometry
FRC (amount of air left after normal expiration
124
Most common cause of HTN in kids
Primary/Essential- 10-20%
Renal disease (ALL TOGEHTER) forms 90% of total cause
125
Treatment for Diamond-Blackfan
Steroids afer >` 1 year
126
Most common type of SCID (mutation)
ILR-2 , gamma chain.- X linkd
Followed by ADA
127
Which condition are struvite stones more common in?
UTI
128
What pH are cystine stones more common in
Alkaline pH, in cystinuria
129
What pH are uric acid stones more common in
Acidic (uric acid), in TLS etc.
130
Which malaria causes cerebral dease
Plasmodium falciparum
131
Does grapefruit inhibit or activate CYP3A4 for activity on cyclosporn or warfarin
Inhibit! So increased toxicity
132
Which chromosomes have Robersonian translocations
13,14,15,21, 22
133
Which pathway involved in pilocytic astrocytoma
RAS-MAPKD
134
Difference between Gastaut and Lennox-Gastaut?
Lennox-Gastuat is an epileptic encephalopathy with multiple seizure types, spike and wave.
Gastaut= benign occipital epilepsy = hallucinations and occipital spikes post eye closure. (THIS IS THE ONE SIMILAR TO PANyiotopoulis)
135
Another name for Gastaut (only) epilepsy
Benign occipital epilepsy
136
Inheritance for noctural frontal lobe epilepsy
AD.
Has brief nocturnal motor seizures
137
What transporter def/mutation is linked to childhood absence epilepsy
GLUT1
138
2 epilepsies with spike and wave
Childhood and juvenile absence epilepsy
139
Basic pathophys for spino muscular atrophy
Degeneration of anterior horn cell in spinal cord and motor nuclei in lower brainstem
140
Classification of SMA and what is the most common?
Type 1- Werndigg-Hoffman most common, <6mo. These kids have poor prognosis, never sit.
Type2: Never walk. >6mo presentation
Type 3: Walk , >2yo presentation
Type 4: generally ok
141
Clinical features of SMA- 5
1. Tongue fasiculations
2. Diffuse symmetrical muscle weakness
3. Weakness more lower than upper limbs (remember face is preserved in SMA)
4. Absent or markedly reduced tendon reflexes
5. Resp insufficiency
142
Name the SMA
Bell shaped chest
Frog leg positioning
Expressive phace
Absent reflexes
Can't sit
Type I
143
Result of repetitive nerve stimulation in SMA
Normal
144
Mutation, chromosome and inheritance for SMA
SMN1 gene, AR
5q13 (think 4 types + SMN1 gene)
145
Carrier fw for SMA
1 in 50
(CF 1 in 25)
146
Treatment for SMA?
Nucinersin.
Convers SMN1 to SMN2 which produces the protein to inhibit apoptosis of anterior horn cells.
Increase in copy number can reduced the phenotype
alteration of the SMN2 pre-RMA splicing process by inhibiting splicing factors. This facilitates the integration of exon 7 into the mRNA and thereby enhances full-length SMA protein levels.
147
What is the most common disorder affected the NMJ
Myasthenia Gravis
148
Pathophys of Myasthenia Gravis
Antibodies BIND to AcH receptors in the post synaptic membrane and prevent transfer of AP.
Diff to botulism- thick honey- STOPS AcH release.
149
Classic symptoms for Myasthenia Gravis
Ocular symptoms ie ptosis, diplopia
Variable fatiguability
Proximal limb weakness and bulbar problems
NORMAL REFLEXES AND SESNSATION
150
Investigations for Myasthenia (3)
1. Blood test for anti-cholinesterase antibodies
2. Neostigmine- most sensitive test. Inhibits Acetylcholinesterase so increased AcH
3. EMG- repetitive nerve stimulation= reduction in response due to FATIGUIABILITY
151
Treatment for myasthenia gravis
Acetylcholinesterase inhibitors ie Pyridostigmine
Steroids/IVIG
Removing thymus can also help reduce production of antibodies
152
Nuerological type II hypersensitivity reaction
Myasthenia Gravis
153
What type or subcategory of myopathy is this?
Weakness with complete resolution between episodes
Channelopathy
154
What is transient neonatal myasthenia
Due to autoAB from mum, usuaully transient. Occurs in 10-15 of babies who have mums with MG
155
What is one test you should ALWAYS do in conjunction with MG bloods?
TFTs
Associated with other AI diseases
156
What are the two types of peripheral neuropathies?
Demyelinating and axonal
157
What is the most common peripheral neuropathy in kids
CharcoMarie Tooth
158
Clinical features for Charco Marie Tooth- 5
1. Muscle wasting and weakness (length dependant)
2. Reduced reflexes
3. Variable foot deformity
4. Impaired distal sensation
5. Motor and sensory neuropathy on nerve conduction studies
159
What are some common motor difficulties in charco marie tooth disease
1. Difficulty walking or running
2. CLumsy
3. Ankle sprain/instability
4. Toe walking
5. Clumsy hands, hand writing difficulty
DEFECITS DUE TO AXON LOSS
160
What is the classification of charco marie tooth disease and most common>
Lots of diff types.
Most common is CMT1- demyelinating
CMT3 and 4 also demyelinating
Anoxal: prolonged nerve conduction studies
CMT2- axonal
161
Mutation for CMT1 and 2
CMT1= PMP22
CMT2= MFN2
162
Mode of inheritance for the most common type of Charcot Marie Tooth
AD
163
Where does the weakness start AND progress in GBS
Starts in lower limbs and progress upwards to involve UL
164
Are cranial nerves involved in GBS?
YES.
165
What disease should you consider in this case:
Young kids with pain/irritability and non weight bearing.
GBS!
166
What happens to reflexes in GBS
LOST.
Polyneuropathy
167
3 tests for diagnosis of GBS
1. CSF: high protein and NORMAL WCC! Do after day 7
2. Neurophysiology: Abnormal
3. MRI: nerve root enhancement.
Overall clinical diagnosis
168
Treatment for GBS
*Monitor for resp and autonomic instability*
1. IVIG / plasma exchange
2. Neuropathic pain relief.
169
Antibodies in GBS? (Note two specific ones relating to conditions)
Overall antiganglioside antibodes
1. GM1- campylobacter
2. GQ1b- Miller Fisher syndrome
170
% of kids recovering fully from GBS
90%
171
Is there any bladder or bowel weakness in GBS
No
172
Is weakness in GBS symmetrial or asymmetrical
Asymmetrical
173
What happens in the CSF after 7 days in GBS
Cytoalbuminological dissociation
(albumin breaks up with Cyto after 7 days, short lived relationship)
174
Aetiology for GBS
Resp/GIT- mostly viral
Campylobacter= worst.
Others are EBV/CMV/mycoplasma
175
Difference between myopathy and dystrophy
Myopathy= STATIC disorder of muscle contraction, dont change over time.
Dystrophy= progressive, usually degen muscle fibres
176
What is central core disease? Inheritance?
Type of myopathy
AD
177
3 typical features of central core disease
Facial weakness
Proximal weakness
Walk by 3-4 years
178
Mutation in >80% of central core disease
RYR1
179
4 diseases associated with malignant hyperthermia
Beckers
Duschenes
Central Core Disease- facial weakness
Myotonic dystrophy
180
What is the most common congenital myopathy
Nemaline myopathy
181
Clinical features of Nemaline Myopathy
Proximal weakness
Hypotonia
Motor delay
Resp insufficiency / failure
182
Muscle biopsy in Nemaline myopathy
Nemaline rods
183
Inheritance for myotonic dystrophy and gene (with repeat)
AD
19q13.3- CTG
184
Muscles/organs affected in myotonic dystrophy
Essentially everything
CNS, Eye, muscle, cardiac, endocrine, gastro
185
Are children of affected MOTHERS or FATHERS more severe in congenital myotonic dystrophy
Afffected mothers.
186
Clinical features of congenital myotonic dystrophy
Start with muscle wasting of hands and feet.
Myotonic at age 5
OPen mouth, tongue protruding (cant close it)
187
Genetic principle involved in kids getting worse over generations for congenital myotonic dystrophy?
AD
Anticipation (esp from mothers)
188
Most common cause of death in congenital myotonic dystrophy
Cardiac arrythmias- sudden death
Resp failure
189
Age of presentation for Duschenes vs Beckers
Duschenes <5
Beckers >5
190
Gait for DMD?
Broad based, waddling gait with proximal weakness.
Toe walking
Flat feet
191
Leg muscles in DMD
Calf hypertrophy, thigh cramps
192
The physical/clinical examination used for DMD
Gower's
Basically timed getting up off the floor.
193
Facial muscles involved or spared in DMD
SPARED
194
Testing for DMD?
In genetic testing, name which one.
CK level
TFTs should be checked just in case
MLPA for dystrophin gene mutation at Xp21- most disease due to large partial deletion
X linked
195
Age by which DMD are no ambulatory
12
average age of death- 21
196
What type of cardiomyopathy in DMD/BMD and which condition is more likely to have it
Dilated CDM
Beckers more likely
1/3 teenagers will have it and another 1/2 by 18 years
197
Treatment of DMD
Steroids= only proven one thats effective
Offered at time of decline- slows progression but not sure how
Sarepta/Golodirsen- injected into muscle to skip DMD exon. Produces Beckers phenotype
198
is CK elevated in myoopathy or dystrophy
DYSTORPHY
progressive muscle loss
199
Onset for limb girdle muscular dystropy
20-60yo
200
Defintion of limb girdle muscular dystrophy
Progressive muscular dystrophy affecting hips and should girdle.
Group of disorders
201
Pathology in Limb girdle
cytoskeletal rather than contractile
202
What does myotonia look like on EMG
Hint: This is the one with poor relaxation
repetitive single fibre discharge- like revving motochycle
203
What is hyperkalemic periodic paralysis
attacks of weakness provoked by resting post exercise or eating K rich foods.
Dominant mutation
SCN4A
204
Patients with myotonic dystrophy, what medication are they hypersensitive to?
Think about unable to relax
Careful with Succinylcholine and anaesthetic agents
204
Patients with myotonic dystorphy, what medication are they hypersensitive to?
Think about unable to relax
Neuromuscular blocking agents\
NO SUCCINYLCHOLINE for anaesthetic
205
Top three risk factors for epilepsy development post febrile convulsion
1. Neurodevelopmental abnormalities (30%)
2. Complex febrile convulsion (29%)
3. Family Hx of epilepsy
206
What condition:
4-8yo
Recent viral infection
Encephalopathy, motor deficits, ataxia, fever
MRI - cotton wool spots
ADEM
207
Where is the abnormality in ADEM in terms of MRI
White matter changes in 90%, cotton wool spots. Lesions are bilateral and multifocal but asymmetric
208
Difference between ADEM and MS?
ADEM: Younger age, SINGLE event of demyelination and motor component
MS: Progressive demyelination, older kids,
209
Antibodies in ADEM
Anti-MOG
ADEM-OG
'Adam is the OG guy'
210
Treatment for ADEM
Spontaneous improvement without treatment but steroids/IVIG used to stop progression of disease
Plasmapharesis can be used in severe cases
211
% of kids making full recovery post ADEM and risk of subsequent MS diagnosis?
60-90%
Low risk of subsequent MS: 2-10%
212
In kids with ADEM, when do they stop developing NEW demyelinating lesions?
After 3 months.
Note can see MRI lesions upto 24 months (usually resolving lesions)
213
Pathophys for ADEM
AutoAB to oligodendricytes which produce myelin --> neuropathy.
Type IV hypersensitivity reaction, T cells attack
214
Common viruses associated with ADEM
1. Influenza
2. Measles
3. Mumps.
4. HHV
215
What is transverse myelitis
Inflammatory demyelinating lesion of spinal cord
216
4 reasons for myelitis in transverse myelitis
1. Idiopathic
2. SLE
3. MS
4. Neuromyelitis optica
217
Key feature for diagnosis of transverse myelitis
There is a sensory level
218
What am I
Bilateral weakness LL
Sensory symptoms with urinary retention upto L1.
Absent abdominal reflexes, otherwise increased tone.
Idiopathic acute transverse myelitis.
Due to sensory level. ALso very common for these patients to have sensory symptoms and bladder disturbance.
219
Ix for transverse myelitis
The usual
CSF, MRI, bloods for auto AB (NMO and MOG)
MRI abnormal in most, and longitudinal segments affected
Remember MOG= ADEM becuase ADAM-oG
NMO= neuromyelitis optica which is one fo the causes
220
Treatment for transverse myelitis
Steroids and plasma exchange if rew
221
Outcome for transverse myelitis ie
% normal to good outcome and risk of MS
70-80% are good
Risk of MS <10%
222
What condition?
Bilateral visual loss
Eye pain ++
Afferent pupillary defect
Optic neuritis
223
Typical eye examination findings for optic neuritis
1. Reduced VA
2. Afferent pupillary defect
3. Reduced colour vision
4. Disc can be blurred or normal
224
Investigations for optic neuritis
MRI to r/o intracerebral lesion
CSF
Bloods including NMO (neuromyelitis optics), MOG (ADEM)
225
Treatment for optic neuritis
Steroids (high dose!)
226
Outcome for optic neuritis: recovery and MS risk
70-80% full recovery
30% MS risk- greatest in those with T2 hyperintense lesions on MRI
227
What am I
Severe attacks of optic neuritis
Myelitis
NMO IgG present
Neuromyelitis Optica Spectrum Disorder (NMOSD)
228
Testing for neuromyelitis optica?
MRI- longitudinally extensive lesions
NMO IgG- specific ++
229
What am I
- Recurrent events of demyelination at diff time intervals
- optic neuritis
- T2 enhancing lesions
MS
230
5 possible symptoms of MS? (note they vary based on where the lesion is)
1. Optic neuritis (remember this has the strongest link)
2. Acute partial transverse myelitis
3. Ataxia
4. Internuclear opthalmoplegia
5. Vertigo
231
Treatment for MS
1. Steroids for acute relapse
2. Long-term DMARD-
---> Interferon beta ...
232
How many stages does anti-NMDAR encephalitis have?
2
Early and second
233
Which stage of anti-NMDAR encephalitis?psychiatric features, confusion, amnesia, seizures
Early stage.
'Go crazy at first'
234
Which stage of anti-NMDAR encephalitis?
movement disorders, dysautonomia, reduction in consciousness
Second
235
Hyperkinetic movement disorder- esp orofacial and limp dyskinesia is suggestive of what
anti-NMDAR encephalitis
236
Which antibodies in anti-NMDAR encephalitis
antibodies to NRI subunits of NMDA receptor
237
What am I
Acute behavioural change
Seizures
Dystonia
NR1 autoAB
anti-NMDAR encephalitis
238
What is anti-NMDAR encephalitis normally associated with
cancer and HSV
239
What is opsoclonus myoclonus ATAXIA
Has all the features in the name
Can also have neuroblastoma or can be post-infectious/mycoplasma
240
Treatment for opsoclonus-myoclonus ataxia
Steroids
IVIG
Cyclophosphamide/Rituximab. Often a remitting-relapsing condition.
241
Presentation of PRES?
Usually a radiological and clinical syndrome
Present with seizures, visual defect, and commonly associated with HTN
242
Things PRES is associated with
Immunosuppresion, SLE, interferon, HSP
243
What are these imaging findings suggestive of:
Focal regions of symmetrical oedema, usually posterior white matter
Watershed zones not in vascular territory
PRES
244
Gene for familial hemiplegic migraine
*Hint- think of family doing dance*
CACNA1A1
(like can can dance)
245
What happens to migraines post sleep
Gets better
246
Treatment for migraines
Avoiding triggers, sleep, triptan, analgesia.
Preventative: not as effective in kids
247
Defn of chronic daily headaches
>15 days or more in a month, atleast 3 months
248
3 causes/factors associated with idiopathic intracranial HTN
Obesity
TCA
Roaccutane
249
CSF finding for raised intracranial HTN
Elevated CSF opening pressure
250
Rx for idiopathic intracranial HTN
Remove trigger factor
Acetazolamide/Topiramate
251
In newborns, most common presentation of stroke?
Seizires
252
Which condition causes recurrent strokes or is likely to?
*Think Vasculitis*
Moya Moya disease
253
What is focal cerebral arteriopathy?
Radiological diagnosis with unilateral infarction/stenosis/irregularity of large intracranial arteries.
Due to infection or idiopathic inflammation
254
What is Moya Moya disease and appearance on CTA?
progressive large vessel stenosis and abnormal collateral network. Affects bilateral usually.
Looks like puff of smoke on CTA.
255
Risk factors for neonatal arterial ischaemic syndrome
1. Maternal infection
2. Coagnulation abnormalities
3. Cardiac disease
4. Perinatal complications
5. Placental embolism
NOT DIFFICULT DELIVERY
256
Risk factors for sinus venous thrombosis
Dehydration, local head/neck/systemic infection, congenital heart disease, anaemia
257
Known mutation for increased risk of ishcaemic and haemorrhagic stroke
COL4A1/2
(Osteogenesis= COL1A1
Alports= COL 3/4/5)
258
What disease?
- Def of galactocerebrosidase (GALC mutation)
- Presents at 3-4 months with irritability, psychomotor regression, spasticity
- Death at 2-5 years
- AR
- Lysosomal disorder
Krabbe
259
What am I
- boy with behaviour change, poor school performance, gait disturbance
- MRI: periventricular white matter changes
Cerebral Adrenoluekodystrophy or X linked ALD>
Peroxisomal disorder!
Most common ALD
260
3 things needed to diagnose adrenoleukodystrophy
Clinical history
ADRENAL INSUFFICIENCY
demyelination
As per the name.
261
Treatment for Adrenoleukodystrophy
Adrenal insufficiency with steroids
Reduced VLCFA not super useful. bone marrow transplant is good if done early
262
What am I on MRI
- polymicrogyria
- Abnormal white matter
- Callosal dysgenesis
*Peroxisomal disorder*
Zelwegger
263
Problem with myelin in Pelizaeus Merzbacher Disease
No myelin production at all!
264
Which lysosomal condition has a higher incidence in Ashkanazi jews
Tay Sachs
265
What disease
deficiency in Sphingomyelinase
Neimann Pick
266
What other disease is known to be linked to copper transport defect (not Wilsons)
Menke
267
What is the gene for GLUT1 transporter?
SLC2A1
268
Most common nerve palsy in paeds?
6th nerve palsy
269
Presentation of 6th nerve palsy ?
Esotropia of affected eye, diplopia that's worse on looking TOWARDS the muscle.
Can be tumour related most commonly medullablastoma
270
Causes of acute facial nerve palsy (top 3)
1. INfection/inflammation ie otitis media
2. Trauma/nerve compression
3. Arterial HTN
271
An infectious cause of polymicrogyria
Zika virus
272
What age does brain myelination finish
2yo
273
Treatment for abdominal migraine
Periactin
