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Paediatrics RACP written exam > Neurology > Flashcards

Neurology Flashcards

1
Q

Carbamazepine side effects

A

SJS (esp HLA-B15:02 Han Chinese)
Agranulocytosis, transient leukopenia, aplastic anaemia
Hepatitis
Tics
Ataxia, dizziness
Headache, drowsiness
Cannot be used in absence or myoclonic epilepsy
Decreases OCP and warfarin
Induces cytochrome P450 (decreases effectiveness others meds)

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2
Q

Clobazam side effects

A 
Apnoea
Drowsiness, sedation
Ataxia
Drooling
Paroxysmal hyperactivity
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3
Q

Lamotrigine side effects

A 
Rash 3-5%
SJS (inc risk with valproate) 1:100 - need to monitor serum levels
Hepatitis
Nausea and vomiting
Headache
Ataxia, dizziness
Diplopia

Recommended if AED needed in pregnancy
Dose decreased when use with carbamazepine and phenytoin
Requires very slow titration of dose

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4
Q

Phenytoin side effects

A 
Hirsutism
Ataxia
Gum hyperplasia
Nausea
Nystagmus
Peripheral neuropathy
Glove and stocking red hand syndrome
Teratogenic
Inhibits absorption folate - megaloblastic anaemia 
Induces cytochrome P450
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5
Q

Sodium valproate side effects

A 
Vomiting
Anorexia
Liver toxicity
Pancreatitis
Retention o weight
Oedema
Alopecia
Teratogenecity, tremors
Enzyme inhibition 
Hyperammonemia
Menstrual irregularities
Low WCC and platelets
Teratogenic = neural tube defects 1-5%
Avoid <2yrs due to mental retardation, fatal hepatotoxicity
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6
Q

Septo-optic dysplasia (de Morsier syndrome) features?

A

Optic nerve hypoplasia, optic chiasm hypoplasia, absent septum pallucidum, pituitary stalk hypoplasia

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7
Q

Antibiotic causing carbamazepine toxicity?

A

Erythromycin

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8
Q

Causes of positive Gower’s sign?

A

DMD, BMD, juvenile dermatomyositis, myotonic dystrophy, Pompe disease (glycogen storage disease type II).

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9
Q

Seizures on EEG precipitated by eye closure indicates what syndrome?

A

Gastaut syndrome (late onset childhood occipital epilepsy)

  • can be mistaken for migraine but has EEG changes similar to Panayiotopoulos syndrome
  • Unlike Panayiotopoulos syndrome, seizures occur during the day and EEG changes are activated by eye closure.
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10
Q

Levetiracetam side effects

A
  • Behavioural side effects: agitation, anxiety, aggression or emotional lability are the most common side effect of
  • Older children: low mood and the risk of suicidal ideation
  • Headache, fatigue
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11
Q

Side effects of topiramate?

A
  • Kidney stones, metabolic acidosis
  • Language impairment
  • Cognitive, somnolence, word-finding difficulties
  • Anorexia and weight loss
  • Teratogen
  • Rare glaucoma risk
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12
Q

4–6/sec irregular spike and wave pattern, which is enhanced by photic stimulation

A

Juvenile myoclonic epilepsy

Tx: life-long sodium valproate

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13
Q

Describe the interactions between carbamazepine and lamotrigine

A
  • Lamotrigine may increase the concentration of carbamazepine, increasing the adverse CNS effects of carbamazepine
  • Carbamazepine may decrease the concentration of lamotrigine and decrease its efficacy
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14
Q

Describe the mode of inheritance for myotonic dystrophy

A

Autosomal dominant

CTG triplet repeat expansion leads to anticipation with subsequent generations

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15
Q

What is paramyotonia, and what is it associated with?

A
  • Temperature related myotonia, aggravated by cold weather
  • Common scenario = patient out into cold wind, cannot open their eyes, difficulty swimming in cold water
  • Alleviated by warm temperatures
  • Associated with myotonia congenita
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16
Q

Describe chronic inflammatory demyelinating polyneuropathy (CIDP)

A
  • Acquired disorder of peripheral nerves and nerve roots
  • Usually symmetrical glove and stocking, motor > sensory, both proximal and distal muscles
  • Globally diminished or absent reflexes
  • Cranial nerve and bulbar involvement occur in a minority.
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17
Q

Winging of the scapula is caused by damage to which nerve?

A

Long thoracic nerve, which supplies the serratus anterior. Originates from C5,6,7 cervical nerve roots.

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18
Q

Visual field deficit caused by surgery for hippocampal sclerosis?

A

Contralateral homonymous superior quadrantanopia

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19
Q

What are the cardiac complications of DMD?

A

Early diastolic dysfunction and focal fibrosis proceed to dilated cardiomyopathy, complicated by heart failure and arrhythmia in most patients.

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20
Q

Describe the different hearing tests

A
  • Auditory brainstem response (ABR) testing - neonate
  • Kendall-toy test >2.5y - speech discrimination test
  • Visual reinforcement audiometry, not ear specific, 6m-2.5y
  • Tympanometry - does not assess hearing but checks compliance of tympanic membranes and ear ossicles
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21
Q

What medications are associated with benign intracranial hypertension?

A

Possible drugs causing BIH are: tetracyclines; sulfonamides; nitrofurantoin; nalidixic acid; cytarabine; cyclosporine; phenytoin; mesalamine; corticosteroid therapy and withdrawal

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22
Q

What are the key features and mechanism of transmission of Friedreich’s ataxia?

A
  • The combination of spinocerebellar degeneration (slurred speech, unsteady gait) with peripheral neuropathy gives the distinctive features of Friedreich’s ataxia: extensor plantar responses with absent lower limb deep tendon reflexes.
  • Autosomal recessive inheritance, expansion of GAA repeat
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23
Q

Which cranial nerve has the longest course?

A

4, trochlear

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24
Q

Describe Mobius syndrome

A
  • Congenital palsy of the abducens (VI) and facial (VII) nerves (close to each other, originate at the pons, infarcts at this level can affect both nerves)
  • Results in a lack of facial expression and weakness on eye abduction
  • There is occasionally associated syndactyly, supernumerary digits and micrognathia.
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25
Q

Which antiepileptic drug has the highest risk of SJS?

A
  • Lamotrigine > carbamazepine > phenytoin

- Increased risk HLA B*1502 Han Chinese (carbamazepine)

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26
Q

Which medications should not be used in basilar or hemiplegic migraines?

A
  • Theorised to be due to vasoconstrictive effects on dilated extracranial arteries and thus could be potentiated by ergotamine or triptans.
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27
Q

Side effects of vigabatrin?

A
  • Visual field constriction from peripheral retinal atrophy, optic neuritis, vision loss (rods > cones, therefore night vision mostly affected) - irreversible
  • Long half life
  • Weight gain, lethargy
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28
Q

What is Canavan disease?

A
  • AR leukoencephalopathy seen in infancy/early childhood
  • Developmental delay from 3-6 months of age then neurodevelopmental regression
  • Acquired macrocephaly, spasticity, seizures and optic atrophy
  • Deficiency of aspartoacylase, leading to excessive excretion of N-acetylaspartic acid
  • MRI demonstrates megalencephaly and diffuse leukodystrophy without sparing of the subcortical U-fibres
  • Usually die 1st decade of life
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29
Q

What is a Dandy Walker malformation?

A
  • Brain malformation with hypoplasia of the cerebellum, particularly the cerebellar vermis and often marked enlargement of the posterior fossa, cyst
  • Associated with encephalocele
  • Children usually present within the first year with hydrocephalus, “sun downing”, irritability and sleepiness
  • Macrocephaly
  • Mild-severe ID, develop delay
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30
Q

Which nerves lie in the cavernous sinus?

A

3-6

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31
Q

List the order of the cranial nerves

A 
O: olfactory nerve (CN I)
O: optic nerve (CN II)
O: oculomotor nerve (CN III)
T: trochlear nerve (CN IV)
T: trigeminal nerve(CN V)
A: abducens nerve (CN VI)
F: facial nerve (CN VII)
V: vestibulocochlear (or auditory) nerve (CN VIII)
G: glossopharyngeal nerve (CN IX)
V: vagus nerve (CN X)
S: spinal accessory nerve (CN XI)
H: hypoglossal nerve (CN XII)
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32
Q

Which nerve injuries can lead to a foot drop?

A

Injury at the level of the L5 nerve root, sciatic nerve or common peroneal nerve may result in foot drop

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33
Q

Which nerve is affected when you have a winged scapula?

A

Long thoracic nerve (innervates serratus anterior)

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34
Q

What does the accessory nerve innervate?

A

Accessory nerve = CN XI - innervates the sternocleidomastoid and trapezius muscles.

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35
Q

Which nerves provide taste to posterior 1/3rd of tongue, and the rest of the tongue?

A
  • Posterior 1/3rd = glossopharyngeal nerve

- Anterior 2/3rd = facial nerve

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36
Q

What is Miller-Dieker syndrome?

A
  • 15% of cases of Lissencephaly have Miller-Dieker syndrome
  • Lissencephaly
  • Facial dysmorphism (prominent forehead, bitemporal hollowing, anteverted nostrils, a prominent upper lip, and micrognathia)
  • Chromosome deletions of 17p13.3
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37
Q

Discuss lissencephaly

A
  • MRI: absence of cerebral sulci, maldeveloped sylvian fissures (lateral sulci/fissures), enlarged ventricles
  • Neuronal migration disorder due to defective neuronal migration during the 12-24th weeks of gestation
  • Lack of development of gyri and sulci. There are absent cerebral convolutions and rudimentary sylvian fissure.
  • Agyria = lack of gyri, pachygyria = thickened cortex
  • Microcephaly, microphthalmia
  • Severe developmental delay, failure to thrive and seizures
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38
Q

Discuss lateral medullary syndrome

A
  • Due to blockage of posterior inferior cerebellar artery (PICA) - supplies the lateral medulla and cerebellum
  • Vertigo, ataxia, ipsilateral dysmetria, cranial nerve palsies (often IX, X) and loss of pain and temperature on the contralateral side (crossing of the spinothalamic tracts).
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39
Q

Describe neuronal ceroid lipofuscinosis

A
  • Batten’s disease, deficiency in the TPP1 enzyme
  • The first sign is a delay in receptive language followed by increasing language difficulties
  • Difficult to manage epilepsy
  • EEG: photoparoxysmal response at low flash frequencies - Progressive motor impairment, eventually becoming wheelchair bound, and progressive visual and cognitive impairment
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40
Q

Mutation in KCNQ2 is associated with?

A
  • Benign familial neonatal epilepsy (BFNE), AD, FHx+ve
  • Seizures usually present within the first few days of life (fifth day fits) and are brief but frequent
  • Repetitive clonic seizures, no impact on development
  • Usually resolve within 15 weeks
  • EEG: interictal usually normal
  • Rarely have severe outcome: KCNQ2 epileptic encephalopathy
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41
Q

Discuss Ohtahara syndrome

A
  • Early infantile epileptic encephalopathy
  • Focal or generalised tonic seizures
  • Frequent intractable seizures, onset 1-3m
  • SevereDD
  • Evolves to West or Lennox Gastaut syndrome
  • Causes: structural, metabolic, genetic
  • EEG: burst suppression, may progress to hypsarrhythmia
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42
Q

Discuss West syndrome

A
  • Infantile spasms, 3-12m age, epileptic encephalopathy
  • GDD +/- regression
  • May have normal neuro exam + head size
  • Sudden flexion/ext of proximal/truncal muscles, head nodding, occur on wakening, last 1-2 seconds, clusters
  • Causes: structural (HIE, lissencephaly, tuberous sclerosis), chromosomal (T21), genetic, metabolic (rare)
  • EEG: hypsarrhythmia, highly disorganised, slow waves with multifocal polyspikes. May initially only be in sleep
  • Tx: vigabatrin (TS), corticosteroids
  • 80% intractable epilepsy, 80% intellectual impairment
  • Can evolve into Lennox-Gastaut
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43
Q

Discuss Dravet syndrome

A
  • 1st year of life
  • Prolonged febrile seizures, seizures post vaccine, GTC but often hemifocal
  • From age 1-4yr: myoclonic, absences, clusters GTC
  • Usually intractable
  • Developmental arrest, ID, ataxia, pyramidal signs
  • 75% abnormality in SCN1A (Na channel gene), 30-50% have family history
  • EEG: initially normal, then generalised spike and wave, slowing. Photic stimulation + sleep deprivation
  • Tx: valproate and clobazam - often drug resistant
  • Carbamazepine + phenytoin contraindicated as are sodium channel agents
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44
Q

Discuss childhood absence epilepsy

A
  • Genetic/idiopathic generalised epilepsy
  • Age 2-12y, may have prev febrile convulsions
  • Otherwise well child, normal neuro exam
  • May have ADHD/learning difficulties
  • Frequent per day, ~10sec, impaired awareness, no aura, no post-ictal, can have blinking/mouthing, ends abruptly
  • Onset >10y likely to become juvenile absence (associated with GTCS)
  • EEG: 3Hz spike and wave, inducible with hyperventilation
  • Tx: ethosuximide, valproate, lamotrigine
  • Atypical absence has diff EEG pattern
  • 75% outgrow seizures, 25% develop GTCS or JME
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45
Q

Discuss Lennox Gastaut syndrome

A
  • Epileptic encephalopathy with onset 1-7 years
  • 70% have a structural brain abnormality, rest genetic
  • Multiple intractable seizure types including tonic (esp in sleep - trunk or arms elevating), atonic, and atypical absence seizures
  • May have drop attacks - issues with care
  • Cognitive and behavioural impairment
  • EEG: slow-spike wave occurring at 2.5Hz
  • Tx: valproate and clobazam, lamotrigine, benzodiazepine, ketogenic diet
  • Carbamazepine and vigabatrin make symptoms worse
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46
Q

Discuss childhood epilepsy with centrotemporal spikes

A
  • BECTS or Rolandic epilepsy
  • Self-limiting, 4-10 years, usually resolved by 13y
  • Focal brief hemifacial seizures (lip, mouth, chewing, hypersalivation), aphasia, clonic movements face +/- unilateral limb
  • Usually <5min, <10 seizures total
  • Seizures usually occur from sleep (75%) or evening/early morning
  • Often +ve FHx
  • Normal neuro exam, behaviour, development
  • 20% generalise, >20% of childhood epilepsy
  • EEG: high amplitude centrotemporal spikes or sharp + slow waves in sleep
  • Tx: carbamazepine (only if recurrent), often no treatment
  • Annual EEG - when changes resolve, so does epilepsy
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47
Q

Discuss Landau-Kleffner syndrome

A
  • Subacute progressive aphasia with previously normal language development
  • Peak 5-7yrs
  • Difficulties with verbal response, verbal audtiory agnosia
  • Often misdiagnoised mutism, regression, autism
  • Seizures and EEG may resolve but language impairment remains >80%
  • Can have behavioural, psych issues
  • May have focal or absence seizures, often nocturnal
  • EEG: continuous temporal spike and wave, status in sleep
  • Tx: valproate +/- clobazam, trial steroids, may need methylphenidate for behaviour
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48
Q

Discuss myoclonic epilepsy

A
  • Mean onset 2-5y
  • Brief, sudden, generalised jerks
  • 50% have GTCS, 30% have FHx
  • Normal exam/development
  • EEG: fast spike complexes >2.5Hz
  • Tx: valproate, lamotrigine, levetiracetam
  • > 50% seizure-free after several years
  • Carbamazepine exacerbates seizures
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49
Q

Discuss temporal lobe seizures

A
  • Onset 1st decade-adult
  • With or without aura, can have normal awareness: anxiety olfactory, auditory, fear, hallucinations, de-ja vu
  • Focal with change in awareness: automatisms common 50-75% - lip-smacking, chewing, swallowing, picking/pulling at clothes, behavioural arrest
  • Post-ictal several minutes, may recall aura
  • Causes: mesial temporal sclerosis, post encephalitis, AVM, infarct. Need MRI
  • EEG: anterior temporal lobe sharp wave or spike, multifocal spikes common. May have normal interictal EEG
  • Tx: carbamazepine or valproate, lamotrigine. Surgery if intractable
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50
Q

Discuss juvenile myoclonic epilepsy

A
  • Onset >8y, peak 12-16y
  • 5% evolve into this from childhood absence epilepsy
  • Myoclonus usually distal, upon waking e.g. knocking over cereal, dropping hairbrush
  • Associated GTCS 90% with occ. absences 10-30% (less impaired awareness)
  • EEG: 4-6Hz polyspike-wave bursts evoked by photo stimulation
  • Lifelong seizures, normal neuro exam + development
  • Tx: valproate, lamotrigine
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51
Q

What is the frequency, risks factors, and cause of SUDEP?

A
  • 1:5000 per year, ? due to seizure-induced hypoventilation and cardiac arrest
  • Refractory epilepsy
  • GTCS frequency
  • Poor medication compliance
  • Young age
  • Early age of seizure onset
  • Underlying neurological disability
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52
Q

Ethosuximide mechanism and side effects

A 
GI esp nausea
Rash, can lead to SJS
Blood dyscrasia
Itching
Headache, fatigue
Works by blocking T-type calcium channels
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53
Q

What are examples of excitatory and inhibitory neurotransmitters?

A
  • Glutamate - excitatory

- GABA, glycine - inhibitory

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54
Q

3Hz spike and wave on EEG is characteristic of?

A

Childhood absence epilepsy, inc with hyperventilation

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55
Q

Continuous temporal spike and wave on EEG is characteristic of?

A

Landau-Kleffner, may have continuous status in sleep

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56
Q

Discuss genetic epilepsy with febrile seizures plus

A
  • Febrile seizures until ~age 11, focal and GTCS in adolescence, rather than remission
  • Can have absence, myoclonic, akinetic, focal
  • AD, incomplete penetrance
  • Can progress into Dravet if develop other seizure types
  • Associated with SCN1A mutation in 75%
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57
Q

Discuss early onset childhood occipital syndrome

A
  • Panayiotopoulos syndrome
  • Associated with vomiting, retching, autonomic symptoms
  • Often initially end up in ICU with concerns for encephalopathy
  • Seizures usually nocturnal and prolonged (last more than five minutes). Up to 50% of seizures last more than 30 minutes consistently
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58
Q

Which MHC can increase the risk of Steven Johnson syndrome in carbamazepine?

A

HLA-B 1502

Han Chinese

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59
Q

Treatment of childhood absence epilepsy?

A

Ethosuximide

2nd: valproate, lamotrigine

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60
Q

Treatment of juvenile myoclonic epilepsy?

A

Valproate

2nd: lamotrigine, leviteracetam

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61
Q

Treatment of BECTS?

A

Often no treatment required
Carbamazepine
2nd: lamotrigine

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62
Q

Treatment of infantile spasms?

A

ACTH/prednisolone - 2 weeks then taper
Vigabatrin in tuberous sclerosis
2nd: ketogenic diet

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63
Q

Treatment of Dravet syndrome?

A

Valproate and clobazam

2nd: levetiracetam, ketogenic diet, stiripentol

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64
Q

Treatment of Lennox Gastaut syndrome?

A

Valproate and clobazam

2nd: rufinamide, ketogenic diet

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65
Q

What is the recurrence risk after a first unprovoked seizure?

A

42% (88% within first 2 years)

Abnormal EEG in idiopathic epilepsy has 2 x risk recurrence than if normal EEG

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66
Q

What are predictive factors for pharmacoresistance in epilepsy?

A
  • Symptomatic/cryptogenic epilepsy with MRI lesion
  • Onset <1y age
  • High no. seizures prior to medications
  • Failure of 1st and 2nd AED
  • EEG abnormal - focal discharge or generalised slowing
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67
Q

Treatment for generalised or unclassified epilepsy?

A

Valproate

  • Not for females of child-bearing potential
  • Avoid in <2yo if undiagnosed or metabolic
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68
Q

4-6Hz polyspike-wave bursts evoked by photo stimulation

A

Juvenile myoclonic epilepsy

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69
Q

Discuss frontal lobe epilepsy

A
  • Clusters or motor seizures, often nocturnal, bizzare and complex motor activity, vocalisation. Clue: stereotyped for each patient, can be mistaken for night terrors
  • Brief <30sec, sudden onset
  • Minimal post-ictal confusion
  • CHRNA4, may be AD
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70
Q

Which antiepileptics are associated with depression and psychosis?

A

Vigabatrin

Levetiracetam

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71
Q

What is the rate of SJS in lamotrigine use in children?

A

1:100 (1:1000 for adults)

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72
Q

Neural tube defects are associated with which AEDs?

A

Valproate and carbamazepine

Require high dose folic acid (5mg OD)

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73
Q

Discuss fetal valproate syndrome

A
  • Neural tube defects
  • Cleft lip/palate, epicanthic folds, upturned nose and small mouth, long philtrum
  • Arachnodactyly, radius/limb defects
  • Develop delay, autism risk
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74
Q

Which AED is safest in pregnancy?

A

Lamotrigine

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75
Q

Discuss fetal hydantoin syndrome

A
  • Teratogenic effects of phenytoin on fetus
  • Affects 1/3rd infants
  • Microcephaly, IUGR, lim defects
  • Heart defects, cleft palate
  • Develop delay, ID
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76
Q

Which AED would you use in liver disease

A

Levetiracetam (renally excreted) - could also use gabapentin but less effective as AED

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77
Q

Which antiepileptics are inducers of CYP450?

A

Phenytoin
Phenobarb
Carbamazepine

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78
Q

Which AED have low renal clearance?

A

Phenytoin, carbamazepine, sodium valproate, diazepam, lamotrigine (levetiracetam, gabapentin, topiramate high)

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79
Q

What drug can you use for refractory seizures in tuberous sclerosis?

A

Everolimus

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80
Q

Discuss depolarisation and hyperpolarization of neurons

A
  • Glutamate - excitatory neurotransmitter binds to neuron and allows influx of Na and Ca through channels and outflux of K. Net result is increased + charge and depolarisation of the neuron
  • This triggers action potential
  • GABA - inhibitory neurotransmitter binds to neuro and allows influx of Cl, leading to a net - charge and hyperpolarization of the neuron
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81
Q

Which AEDs block voltage-gated Na+ channels?

A
  • Carbamazepine
  • Valproate (also inhibits GABA transaminase)
  • Topiramate (also inhibits glutamate + voltage-gated Ca channels)
  • Phenytoin
  • Lamotrigine (also inhibits glutamate)
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82
Q

Which AEDs are calcium channel blockers?

A
  • Ethosuximide
  • Gabapentin
  • Levetiracetam (also inhibits glutamate release, but unknown mechanism action)
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83
Q

Adverse effects of gabapentin?

A

Sedation and ataxia

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84
Q

What is the mechanism of action of vigabatrin?

A

Inhibits GABA transaminase, enhancing effect of inhibitory neurons

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85
Q

Discuss subacute combined degeneration of the cord

A
  • Due to B12 deficiency (vegan, loss terminal ileum, pernicious anaemia), vit E deficiency
  • Degeneration of posterior and lateral columns spinal cord
  • Gradual onset weakness, tingling, numbness in arms and legs
  • Upgoing plantars, spasticity, dec vibration and touch sensation
  • Prolonged deficiency causes irreversible damage
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86
Q

When do the palmer grasp and moro reflexes disappear by?

A

4 months

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87
Q

When does the asymmetric tonic neck reflex resolve by?

A

4 months

88
Q

When does the rooting reflex stop by?

A

3-4 months

89
Q

When does the galant reflex disappear by (stroking spine)?

A

2 months

90
Q

When does the stepping reflex disappear?

A

5-6 months

91
Q

When does the Babinski reflex normalise in infants?

A

About 1 year

92
Q

When should you develop handedness?

A

Around 3y age

93
Q

What is the difference between Erb’s palsy and Klumpke paralysis?

A
  • Erb’s: C5-C6 - arm is flaccid, adducted, int. rotates, elbow ext and wrist flexed, loss of biceps reflex
  • Klumpke: C7-T1, paralysed hand (intrinsic hand muscles), flexed claw hand and supination of forearm. May have ipsilateral Horner’s,
94
Q

What percentage of children with autism have intellectual disability?

A
  • 50%
  • Receptive language delayed more than expressive language
  • Increased risk seizures and macrocephaly
95
Q

Which antiepileptic is a CYP450 inhibitor?

A

Valproate (so increases levels of other drugs)

96
Q

Discuss the use of CBD oil in epilepsy

A
  • Effective in reducing seizures in Dravet and Lennox-Gastaut syndrome
  • Can lead to raised transaminases
  • Causes increased levels of clobazam
97
Q

Discuss purine nucleoside phosphorylase (PNP) deficiency

A
  • AR, immunodeficiency
  • Autoimmunity, especially autoimmune haemolytic anemia, is also frequently present
  • Recurrent bacterial, viral, and opportunistic infections and failure to thrive
  • 2/3 also present with neurological symptoms eg ataxia
  • Low serum uric acid associated with T cell deficiency is highly suggestive of PNP deficiency.
98
Q

When does neural tube formation and closure occur?

A

Between 3-7 weeks gestation

99
Q

When does neuronal migration and corpus callosum formation occur, and what can errors lead to?

A
  • 12-19w

- Lissencephaly, pachygyria, agenesis of corpus callosum

100
Q

When does myelination occur?

A

From 24w to early childhood, errors cause dysmyelination

101
Q

When do cortical structures develop?

A

From 22w until postnatally, errors cause cortical dysplasia

102
Q

What are risk factors for neural tube defects?

A
  • Lack of folate
  • Maternal anticonvulsants: valproate, carbemazepine
  • Previous child with spina bifida/ FHx
  • Malnutrition
  • Maternal obesity or diabetes
  • Inc AFP on antenatal screening
  • Folate: 400ug or 5mg (high risk)
103
Q

Discuss spina bifida oculta

A
  • Common, 5% population, asymptomatic
  • Midline defect of vertebral bodies without protrusion of spinal cord or meninges
  • Dysraphism: cutaneous manifestations - haemangioma, pit, sinus, hairy patch. May be associated with lipoma, tethered cord
  • Usually L5-S1
104
Q

Discuss meningocele

A
  • Meninges herniates through defect in vertebral arches or sacrum
  • Spinal cord usually unaffected
  • May have tethering or syringomyelia
  • If thin skin or leaking - risk meningitis
  • Tx: surgery
105
Q

Discuss myelomeningocele

A
  • Most severe form spina bifida
  • Herniation of meninges, nerve roots, spinal cord
  • If 1 affected child, 4% inc risk, if 2 children 10% risk
  • Motor and sensory deficits below lesions, sphincter disturbance, bladder/bowel incontinence
  • May have associated arnold chiari malformation (downward displacement cerebellar tonsils through foramen magnum), may have aqueductal stenosis or hydrocephalus
  • Tx: surgical repair +/- shunt, catheterisation, ortho, tx associated seizures, enema/suppositories
  • Inc mortality with renal dysfunction
106
Q

Discuss encephalocele

A
  • Protrusion cerebral tissue through midline cranial defect in frontal occipital region
  • Inc risk aqueductal stenosis, Chiari malformation, Dandy walker malformation (abn cerebellum/4th ventricle)
107
Q

Discuss anencephaly

A

Failure closure rostral aspect NT, large defect skull and brain. 75% stillborn, 50% associated polyhydramnios

108
Q

Discuss lissencephaly

A
  • Smooth brain, agyria, poorly formed sylvian fissure (lateral sulcus), enlarged ventricles
  • Disorder neuronal migration
  • Severe motor and learning disabilities, FTT, microcephaly, severe seizures
  • Prominent forehead, micrognathia, bitemporal hollowing = Miller-Dieker syndrome (15% of lissencephaly)
  • 65% have mutations in LIS1 gene
109
Q

Discuss schizencephaly

A
  • Unilateral or bilateral clefts within cerebral hemispheres, surrounding by abnormal brain
  • May have severe ID, seizures, spastic quadriparesis
  • Unilateral is common cause of congenital hemiparesis
110
Q

Discuss polymygrogyria

A
  • Excess folding of brain, increased gyri esp temporoparietal region
  • Drug-resistant epilepsy
  • Focal or generalised
  • Cognitive and motor delays
111
Q

Discuss agenesis of the corpus callosum

A
  • My be isolated or part of syndrome (e.g. Aicardi - infantile spasms)
  • Extent of other malformations determines disability
  • May be asymptomatic with normal intelligences
  • Corpus develops between 10-12w
  • Associated trisomy 8 and 18
112
Q

What are causes of hydrocephalus?

A
  • Over-secretion: choroid plexus papilloma

- Obstruction: tumours, inflammation, malformations, mucopolysaccharidosis, post-haemorrhagic

113
Q

Discuss aqueducatal stenosis

A
  • Common cause hydrocephalus (10%)
  • Can be due to narrow duct, forking, tumour
  • Located between 3rd and 4th ventricle
  • Signs of raised ICP
  • Need ventriculostomy/shunt
114
Q

Discuss holoprosencephaly

A
  • Error in forebrain structure separation into two hemispheres (error in cleavage and rotation) large variation in spectrum
  • Nonseparated ventricles, caudate, hypothalamus, putamen
  • Solitary central incisor tooth, choanal atresia, cyclopia
  • Inc risk with chromosomal issues and maternal diabetes
115
Q

When do most cases of cerebral palsy occur?

A
  • Prenatally (infection, hypoxic-ischaemic injury, chromosomal, toxins)
  • Only a minority occur from intra-partum asphyxia
116
Q

Discuss spastic cerebral palsy

A
  • > 70%
  • UMN: hypertonia, hyperreflexia
  • Hemiplegic (unilateral arm and leg): PVL preterm, infarct, haemorrhage, malformation
  • Diplegic (bilat legs>arms): PVL in preterms
  • Quadriplegic/tetraplegic (4 limbs, arms>legs): intrauterine, usually malform, occ HIE
117
Q

Discuss athetoid cerebral palsy

A
  • 20%
  • Dyskinetic, dystonia, chorea
  • Basal ganglia
  • Athetoid: slow, writhing, involuntary pronation and flexion of distal extremities: bilirubin encephalopathy or profound HIE. Low tone, normal reflexes
  • Choreiform: involuntary rapid, brief, jerking, dancing-like movements, more proximal
118
Q

Discuss ataxic cerebral palsy

A
  • 5-10%
  • Shaky, uncoordinated
  • Cerebellar damage
  • Ischaemia, infection, trauma, meningitis, encephalopathy
  • Broad-based gait, unsteady, hypotonia, dysdiadokinesis, difficult with fine motor movements
119
Q

What are the findings in spastic diplegia?

A
  • Initially normal or low tone
  • Increased tone over first year
  • Difficulty bending legs, sitting, standing on toes, increased lumbar lordosis
  • Spasticity legs>arms
  • Scissoring (strong adductor muscle contractions)
  • Subluxation and dislocation of hips
120
Q

What are the findings in spastic quadriplegia?

A
  • Usually profound developmental delay
  • Abnormal posturing head and limbs
  • Seizures, microcephaly
  • Often neck extension, flexed arms, extended legs
  • Persistent infantile reflexes >6m
  • Supranuclear bulbar palsy (dysphagia and dysarthria)
121
Q

What are associated issues in cerebral palsy?

A
  • Develop delay - MDT
  • Pain from contractures - botox, surgery
  • Epilepsy - AEDs
  • Speech, vision, hearing impairment
  • Poor growth
  • Feeding issues - PEG
  • Sleep issues
122
Q

What are the signs of a sensory ataxia?

A
  • Due to loss of sensory signal = peripheral nerve or posterior column disease
  • Wide gait, careful, not lurching, high foot step with slapping of feet, Rhomberg +ve
123
Q

What are acute causes of ataxia?

A
  • Infection, cerebellitis: varicella, measles, mumps, HSV, EBV, coxsackie
  • Tumour: astrocytoma, posterior fossa
  • Basilar migraine
  • Drug ingestions: carbamazepine, phenytoin, benzo, antihistamine
  • Conversion reaction
  • BPV
  • Post concussion
  • Miller Fisher syndrome: similar to GBS, ataxia, ophthalmoplegia, areflexia
  • Metabolic: MSUD, pyruvate dehydrogenase deficiency
124
Q

What are chronic causes of ataxia?

A
  • Chiari malformations
  • Abetalipoproteinemia (FTT, steatorrhea, ataxia, ID, retinal degeneration)
  • Ataxia telangiectasia
  • Friedreich ataxia
125
Q

What signs might you see in a cerebellar disorder?

A
  • Broad based gait, staggering
  • Dysdiadokinesis
  • Titubation (nodding head/trunk) and movement body back and forth - vermis affected
  • Ipsilateral dysmetria (over/under shoot), hypotonia and veering in direction of affected side - hemispheres affected
  • Nystagmus, intention tremor
  • Slurred speech
126
Q

Discuss ataxia telangectasia

A
  • AR, mutation in ATM gene, which would normally fix damaged DNA + helps with T-lymphocyte development
  • Cerebellar degeneration leads to ataxia (truncal ataxia from 1y), choreoathetosis, problems with swallowing, aspiration pneumonia, ID, oculomotor apraxia. Often misdiagnosed as CP.
  • Non-functional T cells, cannot activate B cells, low immunoglobulins - immunodeficiency
  • Proliferation of damaged cells leads to leukaemia, lymphoma
  • Symptoms: ataxia, loss fine motor skills, recurrent sinopulmonary infections, telangiectasia of eyes, ears, butterfly face
  • Ix: mutation ATM, low immunoglobulins, high AFP, acanthocyte on film
  • Tx: infections, minimise radiation
127
Q

Discuss Friedreich ataxia

A
  • AR, triplet repeat (GAA >100) in FXN (frataxin) gene Ch9 leads to impaired mitochondrial function
  • Low levels FXN lead to low iron sulfur clusters, decreased energy production
  • Affects CNS (ataxia), heart (HCM), pancreas (diabetes)
  • Involves spinocerebellar, dorsal columns, pyramidal tract
  • Oxidative damage from free oxygen radicals due to Fe
  • Ataxia ~10y, weakness, loss proprioception, eventually wheelchair bound, scoliosis, pes cavus, Babinski +ve, loss reflexes, nystagmus, weakness muscles hand and feet
  • Ix: gene testing, MRI, ECHO, slow nerve conduction studies, absent sensory action potentials
  • Tx: physio, scoliosis surgery, antioxidants may prevent HCM
128
Q

What is dystonia?

A

Involuntary sustained contraction of a muscle group resulting in abnormal twisting movements of postures. Can affect limb, trunk, face. Can be focal or generalised

  • Focal unusual in children unless drug induced
  • Can have blepharospasm or torticollis
  • Can be due to juvenile Huntington’s, Wilsons
129
Q

What are causes of drug induced dystonia?

A
  • Dopamine antagonists e.g. antiemetics (metoclopramide), antipsychotics (risperidone), SSRIs, stimulants (amphetamine, methylphenidate)
  • Neuroleptic malignant syndrome
  • Can cause trismus, torticolis, oculogyric crisis (eyes roll upwards)
130
Q

Treatment of acute dystonia

A

Benztropine

Diphenhydramine

131
Q

Discuss dopa-responsive dystonia

A
  • AD, Segawa syndrome
  • DRD gene, results in dopamine deficiency
  • Diurnal variation: symptoms worsen as the day progresses and can improve with sleep
  • Can be confused with dystonic cerebral palsy
  • Delayed or abnormal gait, begins with foot
  • Responds dramatically to small daily doses of levodopa, with sustained benefit unless contractures have developed
132
Q

Discuss torsion dystonia

A
  • Primary torsion dystonia or dystonia musculorum deformans
  • Ashkenazi Jewish population, AD
  • DYT1 gene
  • Onset > age 5, can be task-specific
  • Initially intermittent unilateral posturing of a lower extremity, which assumes an extended and rotated position -> all 4 limbs affected
  • Tx: benztropine (anticholinergic), trial L-dopa
133
Q

Discuss Tourette’s syndrome

A
  • Multiple motor tics, one or more vocal tics
  • Onset <21y, duration >1y
  • 50% have ADHD or OCD
  • Echolalia (compulsive repetition) or coprolalia (compulsive swearing)
  • Increased when relaxed, decrease when doing tasks
  • If severe/disabling: clonidine or haloperidol/risperidone
134
Q

List common causes of headaches

A
  • Tension, migraine, cluster
  • Vascular: SAH, HTN, AVM
  • Raised ICP: tumour, hydrocephalus, BICH, subdural haem
  • Inflam/infection: meningitis, vasculitis
  • Referred pain: sinusitis, OM, optic neuritis
  • Substance abuse
  • Refractive errors
135
Q

What is a complicated migraine?

A

Persistent neurological deficit after migraine attack

136
Q

Symptoms of basilar migraine?

A

Ataxia, vertigo, slurred speech, poor balance

137
Q

What are the features of a cluster headache?

A
  • Painful, intense, around one eye
  • Can last minutes to hours, multiple in one day
  • Lacrimation, rhinorrhea
  • May have Horner’s
138
Q

Treatment of migraines

A
  • Avoid triggers
  • Anti-emetics - prochlorperazine
  • Simple analgesia at onset
  • Prophylaxis: pizotifen, propranolol, amitriptyline
  • Sumatriptan + ergotamine in acute attack (not for basilar as causes vasoconstriction), not together
139
Q

Causes of macrocephaly?

A
  • Familial macrocephaly
  • Hydrocephalus
  • Chronic subdural haematoma
  • Tuberous sclerosis, NF
  • Metabolic conditions
  • Benign external hydrocephalus (well child, inc HC later part 1st yr life due to wide SA space, self-limiting)
  • Ix: depends on neuro/development/parent HC
140
Q

Causes of microcephaly?

A
  • HC <2 SD for age, sex
  • Antenatal and perinatal insults
  • TORCH infections
  • Encephalopathies
  • AR microcephaly
  • Ix: chromosomes, TORCH screen, metabolic screen, MRI head, maternal plasma amino acids PKU
141
Q

Apert vs Crouzon

A
  • Apert - acrocephaly, facial underdevelopment, syndactyly, ID
  • Crouzon - acrocephaly, scaphocephaly/brachy, hypertelorism, exophthalmos, inc ICP, ID
142
Q

Scaphocephaly is due to?

A
  • Sagittal suture

- Elongated, narrow skull

143
Q

Brachycephaly is due to?

A
  • Bilateral coronal sutures
  • Short, broad skull
  • Learning difficulties
144
Q

Plagiocephaly is due to?

A
  • Single coronal or lambdoid, or positional

- Unilateral flattening

145
Q

Trigonocephaly is due to?

A
  • Metopic suture
  • Narrow, pointed forehead
  • Possible brain anomaly
146
Q

Oxycephaly/acrocephaly is due to?

A
  • Coronal, lambdoid, sagittal sutures

- Apert + Crouzon

147
Q

Causes of neonatal hypotonia (floppy infant)?

A
  • Prematurity
  • Illness
  • Chromosomal e.g T21
  • SMA
  • Prader-Willi
  • HIE
  • Metabolic: Zellweger, aminoaciduria, organic aciduria
  • Cervical cord injury
  • Transient myasthenia or congenital myasthenia
  • Muscular or myotonic dystrophy, congenital myopathy
  • Central 60-80%, peripheral 15-30%, genetic or metabolic 60%
148
Q

Discuss signs/symptoms of neonatal hypotonia

A
  • Decr spontaneous movements
  • Abducted legs, extended arms
  • Pectus excavatum, bell-shaped ribs
  • Joint contractures (arthrogryposis), hip dislocation
  • Abnormal traction response, vertical and horizontal suspension
149
Q

Abnormalities on neuro exam with neonatal weakness/ floppy infant (UMN vs LMN)

A
  • UMN: weakness, spasticity (fisting, scissoring), normal or hyperreflexia, clonus. May have seizures, dysmorphism
  • LMN e.g. motor unit: weakness, low or absent reflexes, muscle atrophy, fasciculations, failure of movement on postural reflexes (moro, tonic neck reflex)
150
Q

Discuss spinal muscular atrophy

A
  • Degeneration of alpha motor neurons in anterior horn cells and motor nuclei of brainstem
  • Symmetrical muscle weakness of trunk and limbs, prox > distal, legs>arms, loss of reflexes, hypotonia, muscle atrophy, fasciculations
  • AR (2nd commonest after CF, 1:50 carrier)
  • Deletion of exon 7 on SMN1 gene on Ch5, variable no. of SMN2 (decr copy = more severe phenotype)
  • Diagnostic tests may miss 5% of who have point mutation which can be detected on sequencing
  • Inc apoptosis
  • EMG: fibrillation/fasciculation, inc mean amplitude, MNC
    velocity normal
  • Tx: resp and feeding support, spinraza/nusinersen, encourage production of SMN2 with salbutamol and valproate. AAV9 viral vector of SMN1, trials promising.
151
Q

Discuss the types of spinal muscular atrophy

A
  • T1a: congenital/infantile, severe. Onst by 6m. Decr fetal movements. Symmetrical weakness, hypotonic frog leg, poor head control, tongue fasciculations, bright alert face, areflexic. Bell shaped chest, resp failure due to paralysis intercostal muscles. Risk aspiration pneumonia. Difficulty oral intake/swallow (bulbar). 50% die by 7m, 95% by 2y.
  • T2: intermediate. Onset 7-18m. May learn to sit but not walk. Progressive weakness prox > distal, leg > arm, tremor. Wheelchair, scoliosis. Normal IQ. Gower’s-like movement
  • T3: mild. Onset >18m. Able to walk but proximal weakness, may lose ability to walk. Weak shoulder muscle girdle, decr reflexes +/- tremor. Survival into middle adult life.
152
Q

What is the significance of SMN2?

A
  • Different from SMN1 due to a C to T point mutation at exon 7 causing exon 7 to be spliced out
  • Makes decreased no. of functioning proteins
  • Varying number of SMN2 genes in population. Increased numbers SMN2 in SMA has better prognosis as more functional protein available
153
Q

What is the mechanism of action of spinraza/nusinersen?

A
  • NZ SMA1 only (in Aus), Aus all SMA types
  • Intrathecal administration Q4monthly
  • Antisense oligonucleotide therapy
  • Binds to SMN2 pre-mRNA splicing and prevents removal of exon 7 -> results in more normal SMN protein
  • Earlier treatment = better outcome
154
Q

Discuss transient neonatal myasthenia

A
  • 15% of newborns born to mothers with MG
  • Transfer of anti-AchR antibodies
  • Symptoms within 24 hours of birth
  • Hypotonia, poor feeding (suck fatigue), weak cry, lack of facial expression, ptosis
  • Resp insufficiency uncommon
  • Symptoms resolve 4w-2m, doesn’t recur in baby. High risk recurrence subsequent pregnancies
  • Tx: if severe weakness/resp issues then plasma exchange. If less impaired can use IM neostigmine (anticholinesterase) prior to feeding to improve suck
  • Severe cases can mimic a congenital myopathy
155
Q

Discuss congenital/familial myasthenia gravis

A
  • Usually AR, seronegative for antibodies to anti-AchR, can be pre or post-synaptic defects
  • May have polyhydramnios, arthrogryposis
  • Respiratory insufficiency and feeding difficulties at birth, may require ventilation, stridor
  • Ptosis, generalised weakness, arthrogryposis, weak facial and skeletal muscles, normal extraocular motility
  • Within weeks are stronger, off ventilator, episodes of weakness and life-threatening apnoea throughout life, triggered by infection
  • EMG: decreasing response on frequent stimulation
  • Tx: neostigmine or pyridostigmine
156
Q

Discuss autoimmune myasthenia gravis

A
  • Autoimmune antibodies to nicotinic acetylcholine receptors on muscle cell membranes
  • Anti- AchR also activate complement pathway -> inflammation and muscle cell destruction, reducing receptors
  • Most common adolescent girls, 75% after 10yrs
  • Can be a paraneoplastic phenomena (lung cancer)
  • Type 2 hypersensitivity reaction
  • Muscle weakness characterised by fatigability
  • Affects extraocular muscles (unilat or bilat ptosis and diplopia) but can become generalised, affecting prox limbs and bulbar muscles (dysarthria, dysphagia)
  • Thymoma in 5%, inc risk autoimmune esp Hashimotos
  • Tx: neostigmine or pyridostigmine (acetylcholinesterase inhibitors, stop breakdown of acetylcholine) and steroid (reduce production antibodies), thymectomy
  • EMG: NM block with decreasing amplitude, IgG and IgM antibodies to AchRs (50% may be -ve)
157
Q

What is a myasthenic crisis?

A

Life-threatening manifestation of myasthenia gravis e.g. affecting muscles of respiration

158
Q

Discuss congenital myopathy

A
  • Central core myopathy 15%, nemaline myopathy 20%, congenital fibre-type disproportion (20%), centronuclear (15%)
  • Defects in sarcomeric proteins, CNS not involved
  • Hypotonia and weakness from birth or early infant
  • Non progressive or slowly progressive
  • Feeding and respiratory issues, bulbar dysfunction
  • Ptosis (myotubular), facial weakness “myopathic facies” - wide open mouth, long face
  • Normal cognition
  • Abnormal muscle biopsy, diagnose on gene panel
  • Can cause neonatal death esp if X-linked
  • No available treatments
159
Q

Discuss myotonic dystrophy

A
  • MD type 1: AD, DMPK1 gene on Ch19, CTG repeat >50
  • MD type 2: CNBP gene, CCTG repeat >75 - only adults
  • Condition often unrecognised in mothers
  • Neonate: polyhydramnios, flat baby, facial weakness (long face, carp mouth), hypotonia, joint contractures, talipes, require resp support, bulbar dysfunction
  • Children: facial weakness, then progressive weakness temporalis (drooping eyelids, hollow cheeks), SCM, distal hand and legs muscles (toe and foot drop)
  • Sustained muscle contraction and difficult relaxing e.g. grip = myotonia
  • Cataracts, insulin resistance, cardiac conduction defects + arrhythmia, hypothyroid
  • ID
  • EMG: dive bomber discharges (>age 3), genetic testing, muscle biopsy
160
Q

Congenital muscular dystrophy

A
  • Muscular weakness, hypotonia, joint contractures from birth
  • Muscle biopsy: dystrophic changes
  • CNS often involved
  • Types: merosin -ve (severe), merosin +ve (less severe), abnormal glycosylation of a-dystroglycan (brain malform)
  • All AR, defect in extracellular matrix proteins
  • Elevated CK (c.f. normal CK in congenital myopathy)
161
Q

Discuss Duchenne muscular dystrophy

A
  • Most common NM disease, X-linked recessive
  • 1:3500, 1/3rd de novo mutations, female carriers occ symptomatic
  • Mutation in dystrophin gene
  • Out of frame mutation -> no functional dystrophin
  • 25% point mutations, 10% duplications
  • Early onset <5y with toe-walking, frequent falls, delay in motor milestones, occ FTT. Progressive weakness with waddling gait, lordosis, pseudohypertrophy of calves, Gower’s +ve, cannot climb stairs
  • Difficult reflexes ankles and knees
  • ID 30%, can present prior to muscle weakness, do CK
  • Lose walking 8-12y, wheelchair. Can have static motor function age 3-6y due to brain maturation. Scoliosis.
  • Death due to resp failure or cardiomyopathy, infection
  • Death 20s
  • Dx: CK >5000, mutation dystrophin gene, muscle biopsy dystrophic picture, absent dystrophin stain
  • Tx: physio, OT, steroids (inc strength and function), deflazacort >5y, resp support, braces, contractures
162
Q

Discuss Becker muscular dystrophy

A
  • Allelic disease to DMD, 1:30,000
  • In-frame mutation -> residual protein production
  • Dystrophin content 5-20% of normal
  • Milder form, can walk beyond 16y, later onset >5y, survival into adult life
  • Prone to cramps and cardiomyopathy
163
Q

Floppy weak vs floppy strong

A
  • Floppy weak: hypotonia and weakness. Neuromuscular disorders
  • Floppy strong: hypotonia without weakness. CNS, chromosomal/syndromic, metabolic causes
164
Q

What makes up a motor unit and what conditions can affect each part?

A
  • Anterior horn cell - SMA
  • Peripheral nerve - peripheral neuropathies
  • NMJ - myasthenia gravis, congenital MG
  • Muscle - DMD/BMD, congenital muscular dystrophies, limb girdle muscular dystrophies, FSH dystrophy, myopathies
165
Q

What genetic test would you use in DMD, CMT1A, SMA?

A
  • MLPA or microarray (all deletions/duplications). Will be missed on next generation sequencing (WES, gene panel).
  • 25% of DMD will need dystrophin sequencing as will be missed on MLPA
166
Q

Dystrophy vs myopathy

A
  • Dystrophy: high CK, destruction of previously normal muscle, progressive clinical course, abnormal extracellular proteins
  • Myopathy: normal CK, abnormal intracellular protein, more stable muscle weakness but complications can progress (scoliosis, contractures)
167
Q

Muscle biopsy characteristics of dystrophic muscle

A
  • Variation in fibre size
  • Necrosis and regeneration
  • Internal nuclei
  • Increased connective tissue
168
Q

Discuss limb girdle muscular dystrophy

A
  • AD or AR, variable phenotype, LGMD2a gene
  • Can be similar to DMD/BMD
  • Onset <2y
  • Weakness around shoulder and hip girdle, prox muscles
  • No facial weakness
  • Low back pain. Wheelchair by 20-30s
  • CK usually elevated >5000
  • Dx: gene sequencing, muscle biopsy
169
Q

Discuss facioscapulohumeral dystrophy

A
  • AD, variable expressivity
  • Presents in teenage years
  • Arm weakness, difficult raising arms, prominent scapular winging, wasted biceps/triceps, Gowers +ve
  • Facial weakness, rounded puckered mouth, inability to close eyes in sleep
  • Hearing loss, retinal vasculopathy
  • Variable severity, can progress and cause loss of ambulation
  • Varied CK. EMG - myopathic. molecular diagnosis
170
Q

Distal weakness, distal wasting, pes cavus, reduced reflexes?

A

Charcot Marie Tooth

171
Q

Discuss Charcot Mariet Tooth disease

A
  • Hereditary motor sensory neuropathy >100 genes, can be demyelinating or axonal degeneration
  • AD, AR or X-linked
  • CMT1A most common = demyelinating, CMT2 = axonal
  • PMP22 deletion in CMT1A - microarray, AD, variable severity. Onset 5-25y
  • Progressive pes cavus foot deformity, clawed toes, gait disturbance
  • Pain on prolonged walking, progressive distal muscle weakness and atrophy, reduced or absent reflexes, bilateral foot drop, palpably enlarged nerves
  • Sensory changes - position, vibration, pain/temp, hair loss over legs
  • <5% wheelchair, life span normal
  • NCS: demyelination - slowed, axonal degeneration - decreased amplitude of compound muscle action potential
  • Tx: PT and orthopedic
172
Q

Discuss the nerve conduction studies in CMT

A
  • CMT1 = demyelinating = decr velocity, normal amplitude
  • CMT2 = axonal degeneration = decr amplitude, decr velocity if severe
  • CMT 3 and 4 = mixed
173
Q

What is the role of the dystrophin protein?

A

Links intracellular actin with dystrophin-associated protein complexes, which links to the extracellular matrix and stabilises the muscle support membrane (sarcolemma)

174
Q

Discuss myotonia congenita

A
  • Inherited channelopathy, resulting in muscle membrane hyperexcitability, mutations CLCN1 gene
  • Delayed relaxation of the muscles after voluntary contraction (myotonia)
  • Stiffness, generalised hypertrophy (children resembling body builders), sluggishness of movement, transient weakness, pain, and cramping, warm-up phenomena
  • Develops 2-3 years of age. May appear clinically stable and non-progressive for many years
  • Muscle biopsy usually normal
  • Paramyotonia = muscle relaxation harder in cold weather
175
Q

Discuss GBS

A
  • Acute inflammatory demyelinating polyneuropathy
  • Affects motor and sensory neurons (50%)
  • Can be post campylobacter, mycoplasma, EBV, CMV 3-6/52 prior, may have no history of infection
  • Oligosaccharides on campylobacter are same as on nuclear ganglioside - molecular mimicry/autoantigenn
  • Progressive ascending bilateral paresis of arms and legs, decreased reflexes
  • Abdo pain, back pain, require gabapentin
  • 60% unable to walk, 15% I+V, peaks at 7-10 days
  • Urinary retention, constipation, HTN, tachycardia
  • 5% have chronic inflammatory demyelinating polyneuropathy (>2 relapses >8w)
176
Q

Discuss GBS investigation and treatment

A
  • Ix: inc CSF protein, slowing of motor neuron conduction velocity, conduction block, prolonged or absent F waves
  • Tx: IVIG, plasma exchange, no steroids. Some require 2 x treatment. Rehab, resp support, analgesia
  • 30% mild neurological abnormality, almost all regain ability to walk
177
Q

Discuss transverse myelitis

A
  • Inflammation of spinal cord across entire segment, or multiple segments
  • Most commonly thoracic, damage to myelin
  • Infection, autoimmune (MS, NMO), idiopathic
  • Mycoplasma, herpes, dengue, schistosomiasis
  • Usually bilateral sensory, motor, autonomic (bowel/urine)
  • Well-defined sensory level
  • Muscle weakness, loss of pain/temp, loss of vibration and proprioception
  • Ix: CSF (inc WCC), MRI
  • Tx: if autoimmune then steroids, plasmapheresis
178
Q

What is the corticospinal tract?

A
  • Descending pathway, controls voluntary muscle movement
  • From cerebral cortex - internal capsule - brainstem - medullary pyramids
  • 90% form the lateral CS tract and cross over to opposite side of medulla - descend - synapse to LMN in anterior horn. Controls muscles of limbs
  • 10% form anterior CS tract, do not cross over - descend until reach anterior horn - then cross over and synapse. Controls muscles of trunk
179
Q

What is the dorsal column?

A
  • Ascending pathway

- Sensory - pressure, vibration, fine-touch, proprioception

180
Q

What is the spinothalamic tract?

A
  • Ascending pathway
  • 2 parts:
    • Lateral: sensory - pain and temperature
    • Anterior: sensory - pressure and crude touch (can’t localise)
181
Q

Medications associated with BICH?

A

Tetracyclines; sulfonamides; nitrofurantoin; nalidixic acid; cytarabine; cyclosporine; phenytoin; mesalamine; corticosteroid therapy and withdrawal.

182
Q

Restricted diffusion on MRI suggests?

A
  • Cytotoxic oedema (infarction/ischaemia)
  • Myelin oedema (demyelination or drug-induced)
  • Abscess
  • High grade tumours e.g. medulloblastoma
183
Q

Discuss transient cerebral arteriopathy

A
  • Stenosis/occlusion of distal ICA
  • Most common cause stroke children
  • Cant get post varicella (within 12 months)
  • Also associated with parvovirus, CMV, mycoplasma, helicobacter, enterovirus
  • See flow void on arteriography
  • > if progression after 6m = chronic cerebral arteriopathy = moyamoya type change
184
Q

Discuss posterior reversible encephalopathy syndrome

A
  • Due to hypertension or chemotherapy, kidney disease. e.g ciclosporin, cisplatin, steroids
  • Headache, seizures, vomiting, raised ICP, altered mental status
  • Vision loss, papilloedema
  • MRI: subcortical vasogenic brain oedema
  • Tx: anti-epileptics, slow decreases in BP (sodium nitroprusside)
  • Symptoms usually resolve in 1 week, can cause hemorrhage or ischaemia
185
Q

Discuss Miller-Fisher syndrome

A
  • Acute external ophthalmoplegia, ataxia, and areflexia
  • The 6th cranial nerve is most often involved in MFS
  • Papilledema, may have optic neuritis may also be noted
  • No significant lower extremity weakness compared with Guillain-Barré syndrome, but have paresthesia
  • Transient urinary incontinence or retention
  • May have CN and bulbar palsies
  • Overlaps with Bickerstaff brainstem encephalitis, which also shares many features with Guillain-Barré syndrome with lower motor neuron involvement, has brisk reflexes
  • anti-GQ1b antibodies
186
Q

Causes and treatment of encephalitis

A
  • Often no organism identified
  • HSV (temporal lobes, high mortality and morbidity), VZV, adenovirus, enterovirus
  • Tx: cefotaxime, aciclovir, azithromycin
187
Q

Discuss acute disseminating encephalomyelitis (ADEM)

A
  • Sudden inflammation and demyelination at multiple sites brain and spinal cord (T4 hypersensitivity)
  • Often 1-3/52 post viral illness - flu, MMR, herpes viruses, GAS, mycoplasma
  • Lethargy, fever, headache, N+V, low GCS, seizures
  • Hyperreflexia, upgoing plantars, ataxia, hemiplegia
  • Altered GCS or behaviour must be present
  • Ix: CSF mild raised WCC, oligoclonal bands uncommon
  • MRI: multifocal T2 hyperintensities, fluffy, asymmetric, white matter +/- grey
  • DDx: infection, metabolic, autoimmune
  • Tx: antibiotics and acyclovir, steroids 3/7 +/- IVIG
  • 20-30% residual deficits esp subtle neurocognitive, low IQ, behaviour. 10% have relapse ADEM
188
Q

Discuss multiple sclerosis

A
  • Multiple episodes CNS demyelination separated by time and space
  • Not usually encephalopathic
  • 2nd event usually within 2 yrs. F>M, HLA-DR2
  • May be associated with Vit D def and infections
  • Can be relapsing and remitting due to remyelination
  • Dysarthria, nystagmus, optic neuritis, scotoma, diplopia, muscle weakness, spasms, ataxia, paresthesia, burning
  • Normal CSF WCC, +ve oligoclonal bands
  • MRI: well circumscribed lesions, in corpus callosum (rare in ADEM)
  • Tx: steroids, cyclophosphamide, IVIG
189
Q

Causes of oligoclonal bands in CSF?

A
  • Multiple sclerosis

- NMO (neuromyelitis optica spectrum disorder)

190
Q

Discuss NMO (neuromyelitis optica spectrum disorder)

A
  • Devic’s disease
  • Optic neuritis and transverse myelitis
  • Relapsing demyelinating disease involving optic nerves, brainstem, spinal cord
  • F>M
  • Longitudinally extensive transverse myelitis > 3 segments
  • Ix: CSF WCC inc, prot inc, rarely oligoclonal bands, NMO antibodies against aquaporin 4 channel positive 60-80%. Others have anti-MOG antibodies. Serum Ab levels correlate with disease activity
  • MRI: necrosis + cavitating lesions
  • Tx: methylpred 3-5/7, steroid taper, may need IVIG or plasma exchange. If confirmed NMO Ab+ve rituximab long term. High risk blindness and paraplegia within 5 years
191
Q

Discuss MOG antibody demyelination

A
  • Antibodies against myelin oligodendrocyte glycoprotein (MOG)
  • Cause of relapsing ADEM, optic neuritis, transverse myelitis
  • Prominent optic disc swelling (c.f NMO), less retinal neuronal loss
  • Visual and motor outcomes better than NMO
  • Rapid response to steroids, need long-term taper, likely ongoing immune suppression
192
Q

Discuss NMDA receptor encephalitis

A
  • Movement disorder and encephalopathy
  • Autoimmune encephalitis
  • 1/3rd <18y, F>M
  • Anti NMDA receptor antibodies, serum can be -ve in 15% so check CSF (WCC, protein)
  • Consider underlying tumour (ovarian teratoma)
  • Behaviour/psych (agitation, delusions), dyskinesia (orofacial and oculogyric), repetitive looping movements, aphasia/mutism, insomnia, seizure, decr LOC
  • Consider in pts relapsing post HSV encephalitis
  • EEG: extreme delta brush
  • Tx: methylpred 3-5/7, tapering pred course, IVIG, rituximab, prolonged admission up to 2yrs
  • Symptom control: benzo, AEDs, chloral, clonidine
  • 80% “good” outcome - mild disability. 10% relapse
193
Q

Discuss opsoclonus myoclonus

A
  • Age 1-3y, 50% have occult neuroblastoma
  • Random eye movements, myoclonic jerks, behavioural disturbance, ataxia
  • Paraneoplastic or infectious trigger
  • CSF: mild inc WCC, 35% have oligoclonal bands, inc CD20+ B cells
  • Urine catecholamine +ve 95%
  • MRI/MBIG scintigraphy to look for neuroblastoma, repeat after 6-12m if negative
  • Future: ? GluD2 antibodies
  • Tx: tumour resection, dex, IVIG, rituximab (targets CD20). 80% recovery
  • Better prognosis if neuroblastoma present
194
Q

What symptoms would you get in an ICA stroke?

A

Hemiplegia, hemianopia, aphasia if dominant

195
Q

What symptoms would you get in a MCA stroke?

A

Hemiplegia (UL>LL), hemianopia, aphasia if dominant

196
Q

What symptoms would you get in an ACA stroke?

A

Hemiplegia (pred. LL)

197
Q

What symptoms would you get in an PCA stroke?

A

Homonymous hemianopia, ataxia, hemiparesis, vertigo

198
Q

Investigations in arterial stroke

A
  • MRI and MRA
  • Carotid doppler
  • ECHO
  • Plasma homocysteine
  • Clotting studies + FV Leiden, prothrombin
  • Lipoprotein
  • Protein C, S, antithrombin III
199
Q

Risk factors for stroke

A
  • AVM
  • Lupus
  • DIC
  • Malignancy
  • TTP
  • Arrhythmia
  • RHD, cardiomyopathy, Kawasaki
  • Meningitis, vasculitis
  • MELAS
  • Moyamoya (stenosis internal carotid)
200
Q

Discuss venous thrombosis

A
  • Less common than arterial
  • Venous sagittal sinus thrombosis - sepsis and dehydration
  • IC hypertension, seizures, focal neuro signs
  • Sepsis (OM, sinusitis, cutaneous infection), dehydration, coagulopathy, malignancy, nephrotic syndrome, Fe def anaemia
  • Ix: MRI and MRV
  • Tx: disputed, heparin in acute phase
201
Q

Blue vs pallid breath holding

A
  • Blue: pre-school, due to crying/tantrum. Breath held in exp phase causing cyanosis, syncope, transient LOC. May have associated anoxic seizure with GTCS/posturing. Lasts few seconds. Can sleep for hours post or rapidly recover. Due to intrapulmonary shunting, decr venous return and hypoxia. Inc with Fe def anaemia
  • Pallid: infant-pre-school, due to unpleasant stimulus e.g. injury or vomit, leads to profound vagal response, bradycardia, transient asystole. Brief cry or grunt, then pallor and LOC. GTCS for seconds, rapid recovery or sleep. If frequent consider atropine or cardiac pacing
202
Q

Discuss incotinenta pigmenti

A
  • X-linked dominant, fatal in males, NEMO gene
  • Skin lesions: erythematous, papular, vesicular or bullous, then become pustular and then pigmented
  • 30-50% have seizures, encephalopathy
  • 30% have eye lesions
203
Q

Discuss hypomelanosis of Ito

A
  • Sporadic inheritance
  • Hypopigmented areas in whorls/swirls
  • Seizures, hemimegalencephaly, scoliosis
204
Q

What are the neurological findings in Wilson’s disease?

A
  • Excess copper, low ceruloplasmin

- Dystonia, rigidity, chorea, labile behavior, intellectual disability

205
Q

What are the neurological findings in Menke’s?

A
  • Low copper, low ceruloplasmin
  • ATP7A gene, X-linked
  • Progressive cerebellar infarction, seizures and neuro impairment, hypotonia, sagging face.
  • Death within 2 years
206
Q

Discuss moebius syndrome

A
  • Congenital aplasia of facial nerve nuclei and muscles
  • Affects CN VI and VII, occ V and VIII
  • Bilateral facial palsy +/- abducens or other CN palsies
  • Due to vascular disruption prenatally
  • Lack of facial expressions, feeding issues, micrognathia, dextrocardia, talipes, difficulties closing eyes, strabismus
  • MRI to r/o other abnormalities. Can be associated with limb and chest wall abnorm
  • Normal intelligence
207
Q

Discuss Bell’s palsy

A
  • Acute acquired facial (VII) nerve palsy
  • Monophasic and self-limiting
  • Usually viral causes (HSV, EBV, VZV) or immune-mediated. Usually unilateral, due to demyelination
  • Neuritis (pain/tingling in ear canal), drooping of eyelid and mouth, impaired lacrimation and saliva, taste changes (ant 2/3rd tongue), hyperacusis (stapedius muscle no longer dampening vibrations), forehead also involved as LMN, mild sensory changes
  • Recovery over 2-4/52
  • DDx: GBS, HTN, infection, trauma
  • Tx: protect cornea (ulcer risk), tears, steroids not routine
  • Associated vesicles in ear and hearing loss = Ramsay-Hunt syndrome due to HSV
208
Q

What does the IV CN do and what does a palsy result in?

A
  • Activates superior oblique muscle which causes down and inwards movement of the eye
  • 4th nerve palsy = upward deviation of eye esp when looking towards nose, tilt of head with chin down to unaffected side to decrease diplopia
209
Q

Discuss infantile botulinism

A
  • Symmetric descending flaccid paralysis, always have bulbar palsies
  • Clostridium botulinum toxin acts on the presynaptic mechanisms that release acetylcholine in response to nerve stimulation -> paralysis of nicotinic and muscarinic cholinergic transmission
  • Constipation, generalized weakness, bulbar signs with decreased sucking and gag reflexes, absence of deep reflexes, facial diplegia, lethargy, ptosis, and
    ophthalmoparesis
  • Normal sensory nerves
  • Ix: brief, small, abundant motor unit action potentials
  • Tx: IV botulinum immunoglobulin. supportive, 6-8w recovery
210
Q

What is the trinucleotide repeat in Friedreich Ataxia?

A

Friedreich Ataxia: GAA (Genetic AtaxiA)

211
Q

Causes of retinitis pigmentosa?

A
  • Retinitis Pigmentosa presents initially with deterioration of night vision
  • Bardet-Biedl (obesity, renal, polydactyly, abnormal genitalia, ID)
  • Usher syndrome (hearing and vision affected)
  • Refsum disease (vision and smell affected)
  • NARP (Neuropathy, ataxia and retinitis pigmentosa)
212
Q

Discuss Bardet-Biedl syndrome

A
  • Autosomal recessive ciliopathy
  • 14 known genes, most commonly BBS1 and BBS10
  • Retinitis pigmentosa, post-axial polydactyly, obesity, renal dysfunction, abnormalities of the genitalia and intellectual
    disability
213
Q

Discuss Batten disease

A
  • Most common neuronal ceroid lipofuscinoses.
  • Storage of an autofluorescent substance within lysosomes of neurons and other tissues
  • Previously normal child develops vision problems
    and seizures between 5 and 10 years of age
  • Regression, echolalia, clumsiness
  • Progressive, often fatal by teens or twenties
214
Q

Discuss Leigh syndrome

A
  • Subacute necrotising encephalomyelopathy
  • Mitochondrial
  • Presents in infancy with feeding and swallowing problems, vomiting and FTT
  • Delayed motor and language milestones evident
  • Seizures, weakness, hypotonia, ataxia, tremor, pyramidal signs and nystagmus
  • Intermittent respirations with associated sighing or sobbing
  • External ophthalmoplegia, ptosis, optic atrophy, and decreased visual acuity
  • MRI – bilaterally symmetrical low areas of attenuation in basal ganglia.
  • No treatment with poor prognosis.
  • Elevations in serum lactate levels characteristic
215
Q

Patients with central core myopathy are at risk of?

A

Malignant hyperthermia

216
Q

What are the functions of the cranial nerves?

A 
1 - smell
2 - vision
3 - eye movements
4 - SO, down and out
5 - sensory V1-V3, muscles chewing
6 - LR, out
7 - facial movement, lacrimation, taste ant 2/3rd, stapedius
8 - hearing
9 - tongue move, taste 1/3, pharynx, gag, parotid, chemo/baroreceptors
10 - autonomic, HR, RR, GIT, sensory, chemo/baro, swallow
11 - SCM, trapezius muscles
12 - motor + sensory tongue

Paediatrics RACP written exam (18 decks)

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