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RACP Written > Neurology > Flashcards

Neurology Flashcards

1
Q

Which condition is treatable by enzyme replacement therapy with recombinant human acid d-glucosidase?

A

POMPE disease

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2
Q

To which category of base do the DNA bases cytosine and thymine belong?

A

PYRIMADINE

The others are purine

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3
Q

What is the mechanism of the prokinetic effect of erythromycin?

A

motilin receptor agonisdt

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4
Q

Inheritance pattern for complete androgen insensitivity syndrome?

A

X linked recessive

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5
Q

What volume of air doesn’t expel Co2

A

Physiologic dead space.

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6
Q

What is the neocortex

A

Outermost part of the cerebral hemispheres, involved in higher functions ie thought and language

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7
Q

Two main cell types in neocortex?

A

Pyramidal cells
Non-pyramidal cells: excitatory= glutamate and inhibitory= GABA

GABA says no

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8
Q

Which nerve supplies anterior 2/3 of tongue

A

Facial

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9
Q

Which nerve supplies post 1/3 of tongue

A

Glosspharyngeal

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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

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11
Q

Direction of neural tube closure

A

Cranio-caudal

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12
Q

What embryological structure forms the hindbrain

A

HMF- RMP or think of Hannah’s drawing
H- R
Rhombocephalon

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13
Q

What embryological structure forms the midbrain

A

HMF- RMP
M-M
Mesencephalpon

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14
Q

What embryological structure forms the forebrain

A

HMF-RMP
F-P
Forebrain= proscephalon

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15
Q

What are the six neurotransmitters of the brain?
Hint: Think of the medications used

A

Glutamate
GABA
Serotonin
Dopamine
Norepinephrine
Endorphines

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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

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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

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18
Q

What are 3 features that separate syncope from seizure?

A
  1. Vomiting
  2. Gradual onset
  3. Shallow/slow breathing
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19
Q

What is the % of kids that will grow out of epilepsy?

A

50%

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20
Q

What is defined as drug resistance epilepsy and what % of patient are drug resistant?

A

failed 2 mediations
~25%

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21
Q

When is the incidence and prevalence of epilepsy the greatest?

A

Infancy

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22
Q

What epilepsy?
Left centrotemporal spike

A

Benign rolandic epilepsy

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23
Q

6 features of a simple febrile convulsion

A
  1. 6mo-6yo
  2. Preceeding fever >38.5
  3. GTC
  4. <10mins
  5. One/illness
  6. No CNS infection.
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24
Q

6 features of complex FC and what proportion of FC are complex?

A

25% are complex.

  1. Prolonged ~>10-15mins
  2. Status
  3. Focal seizures
  4. Recurrent in 24 hours
  5. Post-ictal abnormalities ie Todds Paresis
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25
Q

What % of kids with febrile convulsion have family Hx of the same?

A

25%

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26
Q

Risk of febrile convulsion in sibling vs twin of a child affected?

A

Sibling/dizygotic = 7-10%
Twin: 30-50%

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27
Q

What % of kids have recurrence of febrile convulsions overall and within 12 months?

A

1/3 overall

75% within 12 months

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28
Q

5 risk factors for febrile seizure recurrence and % risk overall with 0, 2 and 3- RFs

A
  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

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29
Q

What % of kids with febrile convulsion will go onto develop epilepsy? And what are 4 risk factors that increase the risk of this?

A

3-4% only.
Increased risk if:
- complex Febrile convulsion
- <12 months
- prior CNS problems/developmental
- Family Hx of epilepsy in first degree relative

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30
Q

In the new classification, what is the new term for benign epilepsies?

A

Self-limited

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31
Q

Which epilepsy is this:
4-9 yo
Absence seizures with automatisms
3Hz spike and wake

A

Childhood absence epilepsy

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32
Q

First line treatment for Childhood absence epilepsy

A

Ethosuximide

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33
Q

Typically, what % of kids with childhood absence seizures resolve/become seizure free?

A

80%

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34
Q

What epilepsy type?
8-24yo
Circadian pattern seizures: occurs on awakening
Precipitators: photic stimulation, sleep deprivation, cant brush hair

A

Juvenile myoclonic epilepsy.

‘Think teenagers on their phone (photic), not sleeping’

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35
Q

Treatment for Juvenile myoclonic epilepsy

A

Remember this is the teenager on a phone.

First line: Sodium valproate, but use lamotrigine or Keppra in young females.

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36
Q

Which medication (anti-epileptic) makes myoclonic seizures worse

A

Carbamazepine (also Vigabatrin and Oxcarbaezepine)

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37
Q

Mechanism of action of Carbemazepine

A

Na channel blockker

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38
Q

% relapse in juvenile myoclonic epilepsy if medicatinos ceased

A

90%! So lifelong therapy

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39
Q

What seizure syndrome is this:
Hypsarrythmia
Brief tonic spasms
4-8 month old
Developmental arrest

A

Infantile Epilepsy Spasms Syndrome (Prev West syndrome)

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40
Q

Treatment for West Syndrome? (2 drugs)

A

High dose Pred and Vigabatrin

Vigabatrin particularly good if TS

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41
Q

Genes associated with benign familial neonatal epilepsy.

A

Think K for Kanxa
KCNQ2 and 3

Onset by 6 months

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42
Q

Which gene mutation, known to cause benign familial neonatal epilepsy can also lead to epileptic encephalopathies?

A

KCNQ2

‘Hx of epilepsy in the family and now this kid wont stop ceasing. ‘

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43
Q

What seizure syndrome/epilepsy is this:
EEG: burst suppression patterm
neonatal period
Tonic seizures

A

Early infantile encephalopathy
Bad prognosis, number of reasons

Essentially Ohtahara which is a group of disorders with infantile epileptic encephalopathy with TONIC seizures

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44
Q

Name the epilepsy syndrome:
D1- 7 months of age
Motor and autonomic features
Progressive hypotonia/pyramidal/extrapyramidal features
Death within first year

A

Epilepsy in Infancy with Migrating focal seizures

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45
Q

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

A

Dravet.

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46
Q

What drug to AVOID in Dravet syndrome

A

Anything that blocks sodium channels so:
Lamotrigine, Carbamazepine, phenytoin

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47
Q

One gene mutation commonly associated with Dravet

A

SCN1A
Kids with Dravet are the FIRST to get admitted to SCN

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48
Q

Name the epilepsy:
2-5yo
Jerk and drop seizures
Infrequent tonic seizures in sleep
NORMAL sleep architecture on EEF

A

Epilepsy with myoclonic-atonic seizures
(Sightly different to LGS in terms of sleep)

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49
Q

What transporter def is important to check for epilepsy with myoclonic-atonic seizures

A

GLUT-1

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50
Q

What epilepsy is this:
3-5yo
Tonic, atypical absence, atonic, myotonic seizures
EEG: Slow spike and wave

A

Lennox-Gastuat

Bad prognosis
Paroxysmal fast activity in sleep

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51
Q

What seizure syndrome
Normal kids, start losing acquired language skills
Episodic aphasia
Age 2-9yo
Noctural and diurnal seizures

A

Landau-Kleffner

Landau- Lose language

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52
Q

Remission age for SEIZURES in Landau Kleffner Syndrome

A

Adolescence
Language deficit independent of this

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53
Q

Name the epilepsy syndrome
2-13 years
60-80% when alseep or on wakening
Motor-face oropharyngeal mms
Centerotemporal spikes

A

Self-limited epilepsy with centerotemporal spikes

This covers benign focal epilepsy of childhood, benign rolandic epilepsy

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54
Q

What can’t you treat benign focal epilepsy of childhood with?

A

Carbemazepine!

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55
Q

Name the epilepsy syndrome
EEG: Occipital spikes
Vomiting at night (autonomic seizures)
Peak 3-6 years

A

Panayiotopoulos Syndrome

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56
Q

Name the epilepsy:
Hippocampal sclerosis
Epigastric aura and impaired awareness
Precipitated by stress, sleep deprivation, hormonal changes

A

Temporal lobe epilepsy
(Mesial temporal lobe epilepsy wit Hippocampal sclerosis)

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56
Q

Name the epilepsy:
Hippocampal sclerosis
Epigastric aura and impaired awareness
Precipitated by stress, sleep deprivation, hormonal changes

Hint: What the patient had

A

Temporal lobe epilepsy
(Mesial temporal lobe epilepsy wit Hippocampal sclerosis)

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57
Q

Most common cause of neonatal seizures

A

HIE

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58
Q

First line anti-epileptic for neonatal

A

Phenobard

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59
Q

Name the type of seizure/epilepsy syndrome:
Defect in a-aminoadipic semialdehyde dehydrogenase
Neonate
Seizures very soon after birth

A

Pyroxidine dependent epilepsy

(Increased AASA in plasma)

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60
Q

Name the syndrome
Early <3 months, infantile tonic epilepsy Encephalopathy
Developmental regression
EEG: Burst suppression pattern

A

Ohtahara syndrome

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61
Q

Name 2 broad spectrum drugs used for treatment of seizures?

A

Sodium Valproate
Benzodiazipine (work for all seizure types)

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62
Q

How does phenytoin work?

A

Inhibits repetitive firing of Na-dependant action potentails.

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63
Q

Side effects and chronic toxicity from phenytoin

A

Gingival hypertrophy, hirsutism, folate malabs, serum sickness

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64
Q

How does Carbamazepine work?

A

Blocks voltage gated sodium channels

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65
Q

What other drugs does Capebazepine interact with

A

Phenytoin and Phenobarb.
Induces liver enzyme –> lowers AED levels

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66
Q

Side effects of Carbamazepine

A

SJS in Hans Chinese HLA1502
Decreased action of OCP and Warfarin
CNS, low Na and WCC in toxicity

Exacerbates absence/myoclonic seizures

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67
Q

Can you IM Phenytoin?

A

NO! Crystallises

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68
Q

Where are the majority of neutrophils when not fighting an infection

A

Bone marrow

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69
Q

Mechanism of action of Oxcarbazepine?

A

Coverts to MHD to then block sodium channels

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70
Q

Side effects of Oxcarbazepine

A

essentially same as carbazepine ex hyponatraemia.
Worsens absence seizures and myoclonus

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71
Q

Mechanism of action for sodium valproate?

A

Blocks Na channels +/- GABAergic action

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72
Q

Side effects of sodium valproate

A

CNS side effects
Weight gain, hair loss, GIT disturbance, PCOS
Teratogenic
Pancreatitis

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73
Q

Mechanism of action for Benzos

A

Enhance GABA action at synapse.
Think- GABA= No, so stop activity.

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74
Q

Side effects of benzos

A

The usual- drooling, sedation.
**Can cause tolerance and tachyphylaxis **

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75
Q

How does Ethosuximide work

A

Enhancement of non-GABA mediated inhibition
Partial antagonist of calcium channels

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76
Q

Side effect of Ethosuximide?

A

Bone marrow suppression

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77
Q

How does Lamotrigine work

A

Blocks sodium channels

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78
Q

What medication does Lamotrigine interact with?

A

Sodium Valproate
Causes increased levels!

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79
Q

Side effects of Lamotrigine

A

can get skin hypersensitivity in rare cases

Tremor in toxicity.

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80
Q

Mechanism of action for Vigabatrin

A

Non competitive inhibition of GABA transaminase, stops breakdown of GABA

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81
Q

Side effect of Vigabatrin
Hint fat bats

A

Exacerbate myoclonic seizures
Behaviour disorder
Psychosis
Weight gain
Retinopathy

FAT BATS WHO ARE CRAZY AND CANT SEE AT NIGHT

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82
Q

Medication for infantile spasms (First line)

A

Vigabatrin

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83
Q

Mechanism of action for Topiramate

A

Blocks Na channels, enhances GABA, carbonic anhydrase inhibition.

This is why is has multi layered activity

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84
Q

Adverse effects of Topiramate

A

Cognitive speech, nephrolithiasis, weight loss

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85
Q

Mechanism of action for Leveteracitam

A

SVA2 binding to modulate NT release

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86
Q

Side effect of Keppra

A

Behaviour disorder, psychosis, sleep disturbance

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87
Q

Which drugs worsen absence seizures?

A
  1. Carbamazepine
  2. Vigabatrin
  3. Benzos
  4. Barbiturates
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88
Q

Which drugs worsen myoclonic seizures? (3)

A
  1. Carbamazepine
  2. Vigabatrin
  3. Gabapentin
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89
Q

Which two medications are associated wit the least teratogenic risk?

A

Lamotrigine
Leveteracitam

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90
Q

Which 5 drugs are predominantly cleared by the liver?

A
  1. Diazepam
  2. Phenytoin
  3. Carbamazepin
  4. Sodium valproate
  5. Lamotrigine
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91
Q

Which 2 drugs are predominently cleared via kidneys

A

Topiramate and Gabapentin

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92
Q

What should all children with dystonia recieve?
(note- not secondary to medication)

A

Trial of L-Dopa, could be Dopa-responsive dystonia.

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93
Q

What is dopa responsive dystonia

A

Hereditary progressive dystonia with marked diurnal variation. occurs in first decade of life

Might present at CP with diurnal variation

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94
Q

What happens in movement disorders overall with stress, anxiety and sleep

A

Movements increase with activity, stress and anxiety.
Usually absent in sleep.

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95
Q

Most common cause of acute cerebellar ataxia and presenting age?

A

2-5, commonly post viral.
26% Varicella and 52% other viral illenss

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96
Q

Definition of pleocytosis

A

Increased WCC in CSF esp.

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97
Q

Course/prognosis of acute cerebellar ataxia

A

90% recover within two weeks.
NO long term sequelae
benign and self-limiting disease

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98
Q

Is there encephalopathy in acute cerebellar ataxia?

A

No

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99
Q

Of the leukodystrophy, which one is most common?

A

X-linked adrenoleukodystrophy

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100
Q

What are the white matter changes in X-linked adrenoleukodystrophy

A

occipital region

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101
Q

White matter changes in metachromatic adrenoleukodystrophy?

A

White matter changes around both ventricles.
Mental retardation, spastic ataxia

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102
Q

Common presentation for leukodystrophy- hint 2 features

A

mental retardation
spastic ataxia

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103
Q

Basic pathophys for Fredereich’s ataxia?

A

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.

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104
Q

Gene, chromosome and protein for Fredereich’s Ataxia

A

Chromosome 9, FXN gene to produce Frataxin

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105
Q

Triplet repeat in Fredereichs ataxia

A

GAA

FXN gene, GAA repeat, Hi 9

FGH

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106
Q

What is the commonest inherited ataxia

A

Fredereich’s ataxia

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107
Q

Inheritance for Fredereich’s

A

Autosomal recessive

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108
Q

Age group for Fredereich’s ataxia

A

Older kids 5-15yo (vs ataxia telangiectasia which is iin younger)

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109
Q

Gene and age of presentation for ataxia telangiectasia

A

ATM gene, age 1-4yo
Gene produces a kinase important in DNA repair cascade therefore mutation= chromosomal instability

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110
Q

Inheritance for ataxia telangiectasia

A

Aut recessive

111
Q

Features of ataxia telangiectasia: 5

A
  1. Ataxia
  2. Telangiectasia
  3. Immunodef
  4. Hypogonadism
  5. Cancer predisposition: VERY sensitive to chemo
112
Q

Which hereditary ataxia gives you cardiomyopathy? And which type

A

Fredereich- HYPERTROPHIC.
Fredereich is a big guy who has no ATP so gets big heart?

113
Q

Long term prognosis/sequelae for Ataxia telangiectasia

A

Growth retardation, wheelchair bound by teens.
40% get cancer (lymphoma/leukemia)

114
Q

Inheritance for spinocerebellar ataxia

A

Autosomal dominant, triplet repeat
from 1-28

115
Q

Clinical features of spinocerebellar ataxia

A

Ataxia, optic atrophy, optalmoplegia, dementia, peripheral neuropathy

116
Q

5 features of CENTRAL hypotonia

A
  1. Profound axial hypotonia
  2. Lethargy
  3. Obtundation
  4. Brisk tendon reflexes
  5. Fisting of hands
117
Q

5 features or clues to PERIPHERAL hypotonia

A
  1. Weakness
  2. Depressed/absent tendon reflexes
  3. Fasciculations
  4. Respiratory distress
  5. Alert child.
118
Q

What two infectious cause disorders of the anterior horn cell?

A

Enterovirus
Polio

119
Q

Two risk factors for PRES?

A

Chemotherapy and hypertension

120
Q

An antagonist of AMPA receptors that has a long half-life.

A

Perampanel

121
Q

Skull with copper beaten appearnce

A

Craniosynostosis - appearance due to long term raised ICP

122
Q

Name the 4 autoantibodies for T1DM

A

IAA: 0-2 years
GAD: >2 yo
IA2
ZNTA

123
Q

Grunting increases which parameter on spirometry

A

FRC (amount of air left after normal expiration

124
Q

Most common cause of HTN in kids

A

Primary/Essential- 10-20%

Renal disease (ALL TOGEHTER) forms 90% of total cause

125
Q

Treatment for Diamond-Blackfan

A

Steroids afer >` 1 year

126
Q

Most common type of SCID (mutation)

A

ILR-2 , gamma chain.- X linkd
Followed by ADA

127
Q

Which condition are struvite stones more common in?

A

UTI

128
Q

What pH are cystine stones more common in

A

Alkaline pH, in cystinuria

129
Q

What pH are uric acid stones more common in

A

Acidic (uric acid), in TLS etc.

130
Q

Which malaria causes cerebral dease

A

Plasmodium falciparum

131
Q

Does grapefruit inhibit or activate CYP3A4 for activity on cyclosporn or warfarin

A

Inhibit! So increased toxicity

132
Q

Which chromosomes have Robersonian translocations

A

13,14,15,21, 22

133
Q

Which pathway involved in pilocytic astrocytoma

A

RAS-MAPKD

134
Q

Difference between Gastaut and Lennox-Gastaut?

A

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
Q

Another name for Gastaut (only) epilepsy

A

Benign occipital epilepsy

136
Q

Inheritance for noctural frontal lobe epilepsy

A

AD.
Has brief nocturnal motor seizures

137
Q

What transporter def/mutation is linked to childhood absence epilepsy

A

GLUT1

138
Q

2 epilepsies with spike and wave

A

Childhood and juvenile absence epilepsy

139
Q

Basic pathophys for spino muscular atrophy

A

Degeneration of anterior horn cell in spinal cord and motor nuclei in lower brainstem

140
Q

Classification of SMA and what is the most common?

A

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
Q

Clinical features of SMA- 5

A
  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
Q

Name the SMA
Bell shaped chest
Frog leg positioning
Expressive phace
Absent reflexes
Can’t sit

A

Type I

143
Q

Result of repetitive nerve stimulation in SMA

A

Normal

144
Q

Mutation, chromosome and inheritance for SMA

A

SMN1 gene, AR
5q13 (think 4 types + SMN1 gene)

145
Q

Carrier fw for SMA

A

1 in 50
(CF 1 in 25)

146
Q

Treatment for SMA?

A

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
Q

What is the most common disorder affected the NMJ

A

Myasthenia Gravis

148
Q

Pathophys of Myasthenia Gravis

A

Antibodies BIND to AcH receptors in the post synaptic membrane and prevent transfer of AP.

Diff to botulism- thick honey- STOPS AcH release.

149
Q

Classic symptoms for Myasthenia Gravis

A

Ocular symptoms ie ptosis, diplopia
Variable fatiguability
Proximal limb weakness and bulbar problems
NORMAL REFLEXES AND SESNSATION

150
Q

Investigations for Myasthenia (3)

A
  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
Q

Treatment for myasthenia gravis

A

Acetylcholinesterase inhibitors ie Pyridostigmine
Steroids/IVIG
Removing thymus can also help reduce production of antibodies

152
Q

Nuerological type II hypersensitivity reaction

A

Myasthenia Gravis

153
Q

What type or subcategory of myopathy is this?
Weakness with complete resolution between episodes

A

Channelopathy

154
Q

What is transient neonatal myasthenia

A

Due to autoAB from mum, usuaully transient. Occurs in 10-15 of babies who have mums with MG

155
Q

What is one test you should ALWAYS do in conjunction with MG bloods?

A

TFTs
Associated with other AI diseases

156
Q

What are the two types of peripheral neuropathies?

A

Demyelinating and axonal

157
Q

What is the most common peripheral neuropathy in kids

A

CharcoMarie Tooth

158
Q

Clinical features for Charco Marie Tooth- 5

A
  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
Q

What are some common motor difficulties in charco marie tooth disease

A
  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
Q

What is the classification of charco marie tooth disease and most common>

A

Lots of diff types.
Most common is CMT1- demyelinating
CMT3 and 4 also demyelinating

Anoxal: prolonged nerve conduction studies
CMT2- axonal

161
Q

Mutation for CMT1 and 2

A

CMT1= PMP22
CMT2= MFN2

162
Q

Mode of inheritance for the most common type of Charcot Marie Tooth

A

AD

163
Q

Where does the weakness start AND progress in GBS

A

Starts in lower limbs and progress upwards to involve UL

164
Q

Are cranial nerves involved in GBS?

A

YES.

165
Q

What disease should you consider in this case:
Young kids with pain/irritability and non weight bearing.

A

GBS!

166
Q

What happens to reflexes in GBS

A

LOST.
Polyneuropathy

167
Q

3 tests for diagnosis of GBS

A
  1. CSF: high protein and NORMAL WCC! Do after day 7
  2. Neurophysiology: Abnormal
  3. MRI: nerve root enhancement.
    Overall clinical diagnosis
168
Q

Treatment for GBS

A

Monitor for resp and autonomic instability
1. IVIG / plasma exchange
2. Neuropathic pain relief.

169
Q

Antibodies in GBS? (Note two specific ones relating to conditions)

A

Overall antiganglioside antibodes
1. GM1- campylobacter
2. GQ1b- Miller Fisher syndrome

170
Q

% of kids recovering fully from GBS

A

90%

171
Q

Is there any bladder or bowel weakness in GBS

A

No

172
Q

Is weakness in GBS symmetrial or asymmetrical

A

Asymmetrical

173
Q

What happens in the CSF after 7 days in GBS

A

Cytoalbuminological dissociation
(albumin breaks up with Cyto after 7 days, short lived relationship)

174
Q

Aetiology for GBS

A

Resp/GIT- mostly viral
Campylobacter= worst.
Others are EBV/CMV/mycoplasma

175
Q

Difference between myopathy and dystrophy

A

Myopathy= STATIC disorder of muscle contraction, dont change over time.
Dystrophy= progressive, usually degen muscle fibres

176
Q

What is central core disease? Inheritance?

A

Type of myopathy
AD

177
Q

3 typical features of central core disease

A

Facial weakness
Proximal weakness
Walk by 3-4 years

178
Q

Mutation in >80% of central core disease

A

RYR1

179
Q

4 diseases associated with malignant hyperthermia

A

Beckers
Duschenes
Central Core Disease- facial weakness
Myotonic dystrophy

180
Q

What is the most common congenital myopathy

A

Nemaline myopathy

181
Q

Clinical features of Nemaline Myopathy

A

Proximal weakness
Hypotonia
Motor delay
Resp insufficiency / failure

182
Q

Muscle biopsy in Nemaline myopathy

A

Nemaline rods

183
Q

Inheritance for myotonic dystrophy and gene (with repeat)

A

AD
19q13.3- CTG

184
Q

Muscles/organs affected in myotonic dystrophy

A

Essentially everything
CNS, Eye, muscle, cardiac, endocrine, gastro

185
Q

Are children of affected MOTHERS or FATHERS more severe in congenital myotonic dystrophy

A

Afffected mothers.

186
Q

Clinical features of congenital myotonic dystrophy

A

Start with muscle wasting of hands and feet.
Myotonic at age 5
OPen mouth, tongue protruding (cant close it)

187
Q

Genetic principle involved in kids getting worse over generations for congenital myotonic dystrophy?

A

AD
Anticipation (esp from mothers)

188
Q

Most common cause of death in congenital myotonic dystrophy

A

Cardiac arrythmias- sudden death
Resp failure

189
Q

Age of presentation for Duschenes vs Beckers

A

Duschenes <5
Beckers >5

190
Q

Gait for DMD?

A

Broad based, waddling gait with proximal weakness.
Toe walking
Flat feet

191
Q

Leg muscles in DMD

A

Calf hypertrophy, thigh cramps

192
Q

The physical/clinical examination used for DMD

A

Gower’s
Basically timed getting up off the floor.

193
Q

Facial muscles involved or spared in DMD

A

SPARED

194
Q

Testing for DMD?
In genetic testing, name which one.

A

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
Q

Age by which DMD are no ambulatory

A

12
average age of death- 21

196
Q

What type of cardiomyopathy in DMD/BMD and which condition is more likely to have it

A

Dilated CDM
Beckers more likely

1/3 teenagers will have it and another 1/2 by 18 years

197
Q

Treatment of DMD

A

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
Q

is CK elevated in myoopathy or dystrophy

A

DYSTORPHY
progressive muscle loss

199
Q

Onset for limb girdle muscular dystropy

A

20-60yo

200
Q

Defintion of limb girdle muscular dystrophy

A

Progressive muscular dystrophy affecting hips and should girdle.
Group of disorders

201
Q

Pathology in Limb girdle

A

cytoskeletal rather than contractile

202
Q

What does myotonia look like on EMG
Hint: This is the one with poor relaxation

A

repetitive single fibre discharge- like revving motochycle

203
Q

What is hyperkalemic periodic paralysis

A

attacks of weakness provoked by resting post exercise or eating K rich foods.
Dominant mutation
SCN4A

204
Q

Patients with myotonic dystrophy, what medication are they hypersensitive to?
Think about unable to relax

A

Careful with Succinylcholine and anaesthetic agents

204
Q

Patients with myotonic dystorphy, what medication are they hypersensitive to?
Think about unable to relax

A

Neuromuscular blocking agents\
NO SUCCINYLCHOLINE for anaesthetic

205
Q

Top three risk factors for epilepsy development post febrile convulsion

A
  1. Neurodevelopmental abnormalities (30%)
  2. Complex febrile convulsion (29%)
  3. Family Hx of epilepsy
206
Q

What condition:
4-8yo
Recent viral infection
Encephalopathy, motor deficits, ataxia, fever
MRI - cotton wool spots

A

ADEM

207
Q

Where is the abnormality in ADEM in terms of MRI

A

White matter changes in 90%, cotton wool spots. Lesions are bilateral and multifocal but asymmetric

208
Q

Difference between ADEM and MS?

A

ADEM: Younger age, SINGLE event of demyelination and motor component

MS: Progressive demyelination, older kids,

209
Q

Antibodies in ADEM

A

Anti-MOG
ADEM-OG
‘Adam is the OG guy’

210
Q

Treatment for ADEM

A

Spontaneous improvement without treatment but steroids/IVIG used to stop progression of disease
Plasmapharesis can be used in severe cases

211
Q

% of kids making full recovery post ADEM and risk of subsequent MS diagnosis?

A

60-90%

Low risk of subsequent MS: 2-10%

212
Q

In kids with ADEM, when do they stop developing NEW demyelinating lesions?

A

After 3 months.
Note can see MRI lesions upto 24 months (usually resolving lesions)

213
Q

Pathophys for ADEM

A

AutoAB to oligodendricytes which produce myelin –> neuropathy.
Type IV hypersensitivity reaction, T cells attack

214
Q

Common viruses associated with ADEM

A
  1. Influenza
  2. Measles
  3. Mumps.
  4. HHV
215
Q

What is transverse myelitis

A

Inflammatory demyelinating lesion of spinal cord

216
Q

4 reasons for myelitis in transverse myelitis

A
  1. Idiopathic
  2. SLE
  3. MS
  4. Neuromyelitis optica
217
Q

Key feature for diagnosis of transverse myelitis

A

There is a sensory level

218
Q

What am I
Bilateral weakness LL
Sensory symptoms with urinary retention upto L1.
Absent abdominal reflexes, otherwise increased tone.

A

Idiopathic acute transverse myelitis.

Due to sensory level. ALso very common for these patients to have sensory symptoms and bladder disturbance.

219
Q

Ix for transverse myelitis

A

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
Q

Treatment for transverse myelitis

A

Steroids and plasma exchange if rew

221
Q

Outcome for transverse myelitis ie
% normal to good outcome and risk of MS

A

70-80% are good
Risk of MS <10%

222
Q

What condition?
Bilateral visual loss
Eye pain ++
Afferent pupillary defect

A

Optic neuritis

223
Q

Typical eye examination findings for optic neuritis

A
  1. Reduced VA
  2. Afferent pupillary defect
  3. Reduced colour vision
  4. Disc can be blurred or normal
224
Q

Investigations for optic neuritis

A

MRI to r/o intracerebral lesion
CSF
Bloods including NMO (neuromyelitis optics), MOG (ADEM)

225
Q

Treatment for optic neuritis

A

Steroids (high dose!)

226
Q

Outcome for optic neuritis: recovery and MS risk

A

70-80% full recovery
30% MS risk- greatest in those with T2 hyperintense lesions on MRI

227
Q

What am I
Severe attacks of optic neuritis
Myelitis
NMO IgG present

A

Neuromyelitis Optica Spectrum Disorder (NMOSD)

228
Q

Testing for neuromyelitis optica?

A

MRI- longitudinally extensive lesions
NMO IgG- specific ++

229
Q

What am I
- Recurrent events of demyelination at diff time intervals
- optic neuritis
- T2 enhancing lesions

A

MS

230
Q

5 possible symptoms of MS? (note they vary based on where the lesion is)

A
  1. Optic neuritis (remember this has the strongest link)
  2. Acute partial transverse myelitis
  3. Ataxia
  4. Internuclear opthalmoplegia
  5. Vertigo
231
Q

Treatment for MS

A
  1. Steroids for acute relapse
  2. Long-term DMARD-
    —> Interferon beta …
232
Q

How many stages does anti-NMDAR encephalitis have?

A

2
Early and second

233
Q

Which stage of anti-NMDAR encephalitis?psychiatric features, confusion, amnesia, seizures

A

Early stage.
‘Go crazy at first’

234
Q

Which stage of anti-NMDAR encephalitis?
movement disorders, dysautonomia, reduction in consciousness

A

Second

235
Q

Hyperkinetic movement disorder- esp orofacial and limp dyskinesia is suggestive of what

A

anti-NMDAR encephalitis

236
Q

Which antibodies in anti-NMDAR encephalitis

A

antibodies to NRI subunits of NMDA receptor

237
Q

What am I
Acute behavioural change
Seizures
Dystonia
NR1 autoAB

A

anti-NMDAR encephalitis

238
Q

What is anti-NMDAR encephalitis normally associated with

A

cancer and HSV

239
Q

What is opsoclonus myoclonus ATAXIA

A

Has all the features in the name
Can also have neuroblastoma or can be post-infectious/mycoplasma

240
Q

Treatment for opsoclonus-myoclonus ataxia

A

Steroids
IVIG
Cyclophosphamide/Rituximab. Often a remitting-relapsing condition.

241
Q

Presentation of PRES?

A

Usually a radiological and clinical syndrome
Present with seizures, visual defect, and commonly associated with HTN

242
Q

Things PRES is associated with

A

Immunosuppresion, SLE, interferon, HSP

243
Q

What are these imaging findings suggestive of:

Focal regions of symmetrical oedema, usually posterior white matter
Watershed zones not in vascular territory

A

PRES

244
Q

Gene for familial hemiplegic migraine

Hint- think of family doing dance

A

CACNA1A1

(like can can dance)

245
Q

What happens to migraines post sleep

A

Gets better

246
Q

Treatment for migraines

A

Avoiding triggers, sleep, triptan, analgesia.

Preventative: not as effective in kids

247
Q

Defn of chronic daily headaches

A

> 15 days or more in a month, atleast 3 months

248
Q

3 causes/factors associated with idiopathic intracranial HTN

A

Obesity
TCA
Roaccutane

249
Q

CSF finding for raised intracranial HTN

A

Elevated CSF opening pressure

250
Q

Rx for idiopathic intracranial HTN

A

Remove trigger factor
Acetazolamide/Topiramate

251
Q

In newborns, most common presentation of stroke?

A

Seizires

252
Q

Which condition causes recurrent strokes or is likely to?
Think Vasculitis

A

Moya Moya disease

253
Q

What is focal cerebral arteriopathy?

A

Radiological diagnosis with unilateral infarction/stenosis/irregularity of large intracranial arteries.

Due to infection or idiopathic inflammation

254
Q

What is Moya Moya disease and appearance on CTA?

A

progressive large vessel stenosis and abnormal collateral network. Affects bilateral usually.
Looks like puff of smoke on CTA.

255
Q

Risk factors for neonatal arterial ischaemic syndrome

A
  1. Maternal infection
  2. Coagnulation abnormalities
  3. Cardiac disease
  4. Perinatal complications
  5. Placental embolism

NOT DIFFICULT DELIVERY

256
Q

Risk factors for sinus venous thrombosis

A

Dehydration, local head/neck/systemic infection, congenital heart disease, anaemia

257
Q

Known mutation for increased risk of ishcaemic and haemorrhagic stroke

A

COL4A1/2

(Osteogenesis= COL1A1
Alports= COL 3/4/5)

258
Q

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

A

Krabbe

259
Q

What am I
- boy with behaviour change, poor school performance, gait disturbance
- MRI: periventricular white matter changes

A

Cerebral Adrenoluekodystrophy or X linked ALD>
Peroxisomal disorder!
Most common ALD

260
Q

3 things needed to diagnose adrenoleukodystrophy

A

Clinical history
ADRENAL INSUFFICIENCY
demyelination

As per the name.

261
Q

Treatment for Adrenoleukodystrophy

A

Adrenal insufficiency with steroids
Reduced VLCFA not super useful. bone marrow transplant is good if done early

262
Q

What am I on MRI
- polymicrogyria
- Abnormal white matter
- Callosal dysgenesis

Peroxisomal disorder

A

Zelwegger

263
Q

Problem with myelin in Pelizaeus Merzbacher Disease

A

No myelin production at all!

264
Q

Which lysosomal condition has a higher incidence in Ashkanazi jews

A

Tay Sachs

265
Q

What disease
deficiency in Sphingomyelinase

A

Neimann Pick

266
Q

What other disease is known to be linked to copper transport defect (not Wilsons)

A

Menke

267
Q

What is the gene for GLUT1 transporter?

A

SLC2A1

268
Q

Most common nerve palsy in paeds?

A

6th nerve palsy

269
Q

Presentation of 6th nerve palsy ?

A

Esotropia of affected eye, diplopia that’s worse on looking TOWARDS the muscle.
Can be tumour related most commonly medullablastoma

270
Q

Causes of acute facial nerve palsy (top 3)

A
  1. INfection/inflammation ie otitis media
  2. Trauma/nerve compression
  3. Arterial HTN
271
Q

An infectious cause of polymicrogyria

A

Zika virus

272
Q

What age does brain myelination finish

A

2yo

273
Q

Treatment for abdominal migraine

A

Periactin

RACP Written (18 decks)

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