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RACP Paediatrics Exam > Neurology > Flashcards

Neurology Flashcards

1
Q

What type of inheritance is tuberous sclerosis?

A

Autosomal Dominant (~70% de novo)
TSC1(hamartin) and TSC2 (tuberin)

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2
Q

Neurological follow up of patient with TS?

A

MRI 1-3 years
Routine EEG in asymptomatic infants with TSC every 6 weeks until age 12 months and 3 monthly to aged 2.
Routine EEG in other patients

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3
Q

How do you diagnose TS?

A

2 Major or
1 major and 2 minor
Major:
- Hypomelanotic macules
- Angiofibromas
- Ungal fibroma
- Shagreen patch
- ocular
- Multiple retinal hamartomas
- Multiple cortical tubers or radial migration lines
- Subendymal nodules
- Subependymal giant cell astrocystoma
- Cardiac rhabdomyoma
- Angiomyoliomas
Minor:
- Confetti skin lesions
- Dental enamel pits >3
- Intraoral fibromas >2
- Retinal achromatic patch
- multiple renal cysts
- Non-renal hamartomas
- Sclerotic bone lesions

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4
Q

What can be used to slow growth of subependymal giant cell astrocystomas in TS?

A

mTOR inhibitors (Everolimus)

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5
Q

What is the TSC gene in tuberous sclerosis responsible for?

A

Suppresses MTOR function, therefore in TS over activation leads to overgrowth, abnormal differentiation, increased protein translation and growth of tumours.

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6
Q

What anti-epileptic medication is used to treat seizures in TS?

A

Vigabactrin

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7
Q

What type of inheritance is seen in neurofibromatosis?

A

Autosomal dominant inheritance
NF1 - 17q11.2

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8
Q

How large do cafe au lait macule need to be to diagnose NF1?

A

Prepubertal >5mm
Post-pubertal >15mm

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9
Q

Diagnostic criteria for NF1?

A

Someone who does not have a parent diagnosed with NF1
* If two or more of the following are present:
* Six or more café au lait macules
* >5mm (prepubertal)
* >15mm (pubertal)
* Axillary or inguinal freckling (Crowe sign)
* Two or more neurofibromas of any type or one plexiform neurofibroma
* Optic glioma
* Two or more iris hamartomas (Lisch nodules)
* Distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of
the tibia, or pseudoarthrosis of a long bone
* A heterozygous pathogenic NF1 variant with a variant allele fraction of 50%
in apparently normal tissue such as WBCs
* A child of a parent who meets the diagnostic criteria specified above
merits a diagnosis of NF1 if one or more the above criteria are present.

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10
Q

What treatment is available for plexiform neurofibromas in NF1?

A

MEK Inhibitors (trametinib, selumetinib)

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11
Q

What malignant tumour is associated with NF1?

A

Malignant peripheral nerve sheath tumour

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12
Q

What are the skeletal abnormalities seen in children with NF1?

A

Sphenoid dysplasia
Bowing of long bones +/- pseudoarthrosis

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13
Q

What is the gene mutation involved in sturge weber syndrome?

A

Somatic mutation of GNAQ on chromosome 9q21 - sporadic

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14
Q

What is the ophthalmological complication in Sturge Weber Syndrome?

A

Glaucoma (choroidal angioma)

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15
Q

What is the cranial complication seen in Sturge Weber Syndrome?

A

Leptomeningeal angiomata

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16
Q

What is the gene mutation in ataxia telangiectasia?

A

ATM

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17
Q

What Ig deficiency do children with ataxia telangiectasia have?

A

IgA

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18
Q

What migraine medication should be avoided in sturge weber syndrome and why?

A

Triptans - abnormal vasculature can increase risk of stroke

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19
Q

Where is the defect in smooth muscle atrophy?

A

Anterior horn cell

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20
Q

What is the gene mutation for SMA?

A

Homozygous deletion of exon 7 of the SMN1 gene = decreased production of survival motor neuron protein –> motor degeneration and muscle atrophy
Autosomal recessive

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21
Q

What is the carrier frequency of SMA?

A

1:50

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22
Q

6 month old
Hypotonic frog leg posture, poor head control, paucity of anti gravity movements, weak cry and cough, tongue fasciculation’s, bright alert face, areflexic with feeding difficulties and paradoxical respirations?

A

SMA1

23
Q

What does a bell-shaped chest on chest xray suggest?

A

Neuromuscular disorder eg. SMA

24
Q

What is the treatment for SMA?

A

AAV9 vector gene therapy Zolgensma (introduces SMN1 gene into patients cells)
Antisense oligonucleotide therapy such as Nusinersen (spinraza) and risdiplam - modulation of low functioning SMN2 gene

25
Q

What is the best predictor for prognosis in SMA?

A

Number of SMN2 copies, more copies = better prognosis

26
Q

What determines whether you will be affected by Duchenne or Becker muscular dystrophy?

A

If mutation is an out of frame mutation you will have Duchenne if you have an in frame mutation you will have Beckers.

27
Q

What type of inheritance is seen in Duchenne muscular dystrophy and Becker muscular dystrophy?

A

X-linked recessive inheritance
Some children with turners syndrome or girls with skewed X lionisation can be affected also

28
Q

What are the signs of Duchenne muscular dystrophy?

A

Aged 3-5
Mild delay in gross motor milestones
Frequent falls
Difficulty keeping up with peers or climbing stairs
Toe walking
Specific learning difficulties
CK >5000

29
Q

What are the signs of Beckers muscular dystrophy?

A

Present in teen years
Walk beyond 16 years
Muscle cramps and pains
Raised CK<5000

30
Q

How do you test for Duchenne muscular dystrophy and what is the treatment?

A

Dystrophin MLPA
If negative dystrophin sequence usually done as part of a gene panel

Steroids (prednisone, deflazacort)
Ensure had MMR and varicella as can’t have these once on steroids.
Sick day management

31
Q

What is the first line agent for absence seizures?

A

Ethosuximide
Absence seizures show 3Hz generalised spike waves on EEG provoked by hyperventilation

32
Q

Why is sodium valproate avoided in children under two years with seizures?

A

Risk of metabolic condition - lead to hyper ammonia and also cause liver failure

33
Q

What is the gene involved in benign familial neonatal seizures?

A

KCNQ2 and KCNQ3 - potassium channel
Autosomal dominance
Present with repetitive clonic seizures onset day 2-3 that usually resolve within weeks-months

34
Q

What does hypsarrhythmia indicate on EEG?

A

Infantile spasms

35
Q

What is the treatment of infantile spasms?

A

Steroids first line
Vigabactrin (mTOR inhibitor) for children with tuberous sclerosis.
Previously ACTH injections were used.

36
Q

What sort of seizures are seen in Lennox Gastaut Syndrome?

A

Multiple seizure types including atypical absence, tonic, atonic and myoclonic with long periods of non-convulsive status.
Frequent drop attacks
EEG - Slow spike and wave pattern

37
Q

Treatment for Lennox-Gastaut Syndrome

A

Sodium valproate
Benzodiazepine
Ketogenic diet
Corpus Callostomy and vagal nerve stimulation for refractory

38
Q

Genetic epilepsy with febrile seizures + is related to which main gene mutation?

A

SCN1A
Children have febrile seizures beyond 6 years old.

39
Q

If you have a child less then 12 months who has had multiple prolonged febrile seizures that present hemiclonic what should you consider?

A

Dravet syndrome
EEG - Slows generalised poly spikes
Stiripentol is the most effective treatment

40
Q

Focal sensori-motor seizures from sleep that initially involves the face and tongue with gagging and facial twitching followed by generalised T/C seizure.

A

Self limited epilepsy with centrotemporal spikes (Benign rolandic epilepsy)
Centro-temporal spikes seen on EEG

41
Q

Early morning myoclonus - difficulty eating breakfast in the morning due to tremor of hand. What could this indicate?

A

Juvenile myoclonic epilepsy
EEG - Photic induced burst of generalised polyspike 4-6Hz

42
Q

What epileptic condition would you think about in a child with acquired epileptic aphasia?

A

Landau-Kleffner Syndrome - lose the ability to recognise voice, sound, speech. Regression in language and associated with seizures with marked behavioural disturbance.

43
Q

What is the classical finding on EEG in Landau-Kleffner Syndrome?

A

Continuous status epilepticus of sleep

44
Q

If Tics are impacting one QOL what medication can be used?

A

Clonidine

45
Q

What other conditions can tics be associated with?

A

Tourettes, OCD, ADHD

46
Q

In someone who has HLA-B*1502 what does this predispose them to?

A

Stevens johnson syndrome with carbamazepine

47
Q

Which anti-seizure medication has the highest risk of Stevens Johnson syndrome?

A

Lamotrigine

48
Q

Which anti-seizure medication can cause hypospadias in the foetus?

A

Topiramate

49
Q

Which anti-seizure medications are renal excreted?

A

Gabapentin
Levetiracetam
Vigabactrin
Topiramate

50
Q

Which anti-seizure medications are metabolised in the liver?

A

Lamotrigine
Sodium valproate
Carbamazepine

51
Q

Which anti-epileptic medication should not be used in generalised epilepsy?

A

Carbamazepine - can worsen

52
Q

Which anti-seizure medication can cause weight loss?

A

Topiramate

53
Q

Which anti-seizure medication can cause psychosis?

A

Levetiracetam

RACP Paediatrics Exam (25 decks)

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