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Paediatrics RACP Exam Study > Paediatric Neurology 1 > Flashcards

Paediatric Neurology 1 Flashcards

1
Q

What are the side effects of sodium valproate?

A
  • weight gain (linked to PCOS, metabolic syndrome)
  • nausea/vomiting
  • hair loss
  • easy bruising (thrombocytopenia)
  • tremor
  • dizziness
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2
Q

What are the side effects of lamotrigine?

A
  • rash - SJS high risk (1/50)
  • nausea
  • dizziness
  • tremor
  • diplopia
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3
Q

What are the side effects of vigabatrin?

A
  • Visual field constriction (30%) from peripheral retinal atrophy, incompletely reversible on cessation
  • optic neuritis
  • vision loss (rods > cones, therefore night vision mostly affected)
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4
Q

What are the side effects of gabapentin?

A
  • somnolence
  • dizziness
  • tremor/ataxia.
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5
Q

What are the side effects of carbemazapine?

A
  • nausea/vomiting
  • SJS!! Asians susceptible if HLA B1502
  • dizziness
  • drowsiness
  • liver dysfunction
  • hyponatraemia (SIADH)
  • diplopia, ataxia
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6
Q

What drugs can cause benign intracranial hypertension?

A

Antibiotics: tetracyclines, sulfonamides, nitrofurantoin, nalidixic acid
Chemo: cytarabine; cyclosporin
Anticonvulsants: phenytoin
5-ASA; corticosteroids + withdrawal

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7
Q

What psychiatric comorbidity is associated with Tourette Syndrome?

A

OCD

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8
Q

What are the side effects of phenytoin?

A
  • purple glove syndrome!
  • liver dysfunction w/ high ammonia
  • gum hypertrophy
  • hirsuitism
  • nystagmus
  • rash, SJS
  • folic acid deficiency
  • lower bone density.
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9
Q

What are the side effects of topirimate?

A
  • Renal stones
  • (hyperchloraemic) Metabolic acidosis - inhibits renal carbonic anhydrase, RTA
  • slow thinking
  • weight loss (appetite suppression)
  • paraesthesia
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10
Q

Bilateral VIII nerve acoustic neuromas (i.e. vestibular schwannomas) are characteristic for

A

Neurofibromatosis 2

Note: could be unilateral with 2 of meningioma, neurofibroma, schwannoma, juvenile posterior subcapsular cataracts, glioma.

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11
Q

Which cells are affected in SMA?

A

Anterior horn cells

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12
Q

What are the skin lesions associated with tuberous sclerosis?

A
  • Hypomelanotic macules
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13
Q

What is Horner syndrome?

A

Ipsilateral ptosis, miosis and anhydrosis
Congenital or lesion of sympathetic pathway
Sequelae of cardiac surgery
If occurs before age 2, depigmented iris

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14
Q

What age can you test smell from?

A

32/40

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15
Q

When does the grasp reflex appear?

A

28/40

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16
Q

When should the Moro reflex disappear?

A

By 5-6 months postnatally

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17
Q

What are the diagnostic criteria for neurofibromatosis 1?

A 
90%, 17q
2 or more of:
- ≥ 6 café-au-lait macules (prepubertal >5 mm, postpubertal >15 mm).
- ≥ 2 neurofibromas, or one plexiform neurofibroma (30%)
- axillary/inguinal freckling
- 2 or more Lisch nodules
- Osseous lesion
- Optic glioma (15%; symptomatic in 2%)
- 1st degree relative with NF
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18
Q

How do you treat plexiform neurofibroma?

A
  • Surgical - recurrence rate high

- Medical - MEK inhibitor

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19
Q

What are the diagnostic criteria for neurofibromatosis 2?

A
  • Bilateral vestibular schwannoma
    OR
  • Positive family history AND unilateral vestibular schwannoma OR two of meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular cataract
    OR
  • Multiple meningiomas AND unilateral vestibular schwannoma OR two of schwannoma, glioma, neurofibroma, posterior subcapsular cataracts
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20
Q

What genetic testing can be done for NF1?

A
  • If known mutation can target this e.g. for preimplantation etc.
  • 95% of people with diagnosis have a mutation in the NF1 gene
  • If the mutation is NOT known then you need to do sequencing for the entire NF1 gene therefore routine genetic testing is not indicated
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21
Q

What are the mutations involved with tuberous sclerosis?

A
  • TSC1 / 9q34 / harmatin

- TSC2 / 16p13.3 / tuberin

22
Q

What are the neuroimaging findings of tuberous sclerosis?

A
  • Cortical dysplasia (tubers or white matter radial migration) 50% frontal lobe; high T2 and low T1 , 10% enhancement; frequently calcify >2yo
  • Subependymal hamartomas: 88% calcification after early childhood, seen by 6/12; variable signal, frequently high T1 and iso-high T2
    enhancement variable, don’t grow
  • Subependymal giant cell astrocytomas (SGCA/SEGA): 8-18 years, large and growing, intense enhancement
23
Q

What tumours are children with NF1 at higher risk of?

A
  • Optic glioma and neurofibromas (obviously)
  • Phaeochromocytoma
  • Rhabdomyosarcoma
  • Leukaemia
  • Wilms tumour
24
Q

What are minor features of TS?

A
  • dental enamel pits: 3 or more for the entire dentition
  • intraoral fibromas (2 or more)
  • non-renal hamartomas
  • retinal achromic patch
  • ‘confetti’ skin lesions
  • multiple renal cysts
25
Q

What are major skin features of TS?

A
  • Hypomelanotic macules/ashleaf spots (>3, must be 5mm, at birth/infancy), 90%
  • Angiofibromas (>3, age 2-5) 75% or fibrous cephalic plaque 15-20%
  • Ungual or periungual fibroma (>2, adolescent) 20%
  • Shagreen patch (like orange peel, 1st decade) 20-30%
    (% for by adulthood)
26
Q

What is the major genetic mutation in Friedreich Ataxia?

A

Frataxin gene, 9q13, GAA repeat expansion in intron 1

27
Q

What sensory abnormality is associated with Friedreich Ataxia?

A
  • Posterior column dysfunction (vibration/proprioception)
28
Q

What is adrenoleukodystrophy?

A
  • X-linked disorder, body attacks adrenals and white matter due to VLCFA accumulation
  • Symptomatic 5 - 15yo
  • learning, behavioural, gait.
  • Generalized seizures early on
  • UMN signs: spastic quadriparesis and contractures, ataxia, and marked swallowing disturbances (pseudobulbar palsy), more terminal stage
29
Q

12-18 month old with irritability, inability to walk, diminished deep tendon reflexes and hyperextension of the knee, causing genu recurvatum has:

A

Late infantile metachromatic leukodystrophy - AR white matter disease.

30
Q

What are the findings in metachromatic leukodystrophy?

A
  • Irritability, inability to walk, diminished or absent deep tendon reflexes, knee hyperextension
  • Gradual muscle wasting, weakness, hypotonia
  • MRI - bilateral symmetrical confluent areas of signal change in periventricular white matter with sparing of subcortical U fibres
31
Q

We are cautious with Na Valproate in <2 year olds because of…

A

…relative risk of hepatotoxicity (but we use in Dravet!)

32
Q

Avoid which antiepileptics in juvenile myoclonic epilepsy

A
  • Carbamazepine
  • Vigabatrin
  • Tiagabine
  • oxcarbazepine
  • phenytoin
  • pregabalin
  • gabapentin
33
Q

EEG has centro-temporal spikes with accentuation in sleep in….

A

Rolandic epilepsy

34
Q

What are the earliest skin findings in TS?

A
  • Ash leaf spots
  • May be present at birth or early infancy
  • 3 or more white spots at birth suggests diagnosis of tuberous sclerosis
35
Q

What is the drug of choice for childhood absence epilepsy?

A

Ethosuximide

36
Q

The leading cause of stroke in children is:

A

Focal cerebral arteriopathy

37
Q

Avoid carbamazepine in…

A

…primary generalised epilepsies such as CAE and JME.

38
Q

How is myotonia congenita/ congenital myotonic dystrophy inherited?

A

AD

39
Q

What are the typical clinical features of neuromyelitis optica?

A

Optic neuritis and transverse myelitis

Often Aquaporin 4 positive

40
Q

What is the typical age for ADEM?

A

<10

41
Q

What does the facial nerve (VII) do?

A 
Facial movements: Blinking/closing eyes, smiling, frowning, lacrimation, salivation, flaring nostrils, raising eyebrows
Innervates stapedial (stapes) muscles of the middle ear &amp; taste sensations from the anterior two thirds of the tongue.
42
Q

What CN are in the cavernous sinus?

A
  • CN 3-6
  • If you get a problem in the cavernous sinus, you will get opthalmoplegia, proptosis, occular and conjunctival congestion, trigeminal sensory loss, Horners syndrome
43
Q

What other issues is Bell’s Palsy associated with?

A
  • hypertension
  • coarctation of the aorta
  • Acute OM
  • Ramsay-Hunt syndrome (reactivation of VZV causing a vesicular eruption with facial nerve palsy).
44
Q

What is the difference between bulbar and pseudobulbar palsy (and how do they manifest)?

A
  • affects CN IX-XII
  • pseudo-bulbar is UMN, bulbar LMN
  • difficulty eating, speaking
  • Differentiated by reflexes, emotional lability with pseudobulbar
45
Q

Name 3 early warning signs of cerebral palsy:

A
  • handedness before 18 months of age
  • delayed motor milestones
  • persistence of ‘infantile’ or primitive reflexes.
46
Q

What is the clinical presentation of Friedrich’s ataxia?

A
  • Cerebellar signs/spinocerebellar degeneration and evidence of a peripheral neuropathy.
  • Unsteady gait, slurred speech.
  • Typically extensor plantar responses with absent lower limb deep tendon reflexes
47
Q

What are the diagnostic criteria for tuberous sclerosis complex?

A

Genetic:
- TSC1 or TSC2 pathogenic mutation

Clinical :

  • definite 2 major features OR 1 major and ≥2 minor
  • possible 1 major OR ≥2 minor
48
Q

What are the major non skin features of TS?

A
  • Cortical dysplasia
  • Subependymal nodule
  • Subependymal giant cell astrocytoma
  • Multiple retinal hamartomas
  • Cardiac rhabdomyoma
  • Renal angiomyolipoma
  • Pulmonary lymphangioleiomyomatosis
49
Q

What genetic abnormality is associated with myotonic dystrophy?

A
  • CTG triplet repeat on chromosome 19q13.3 in DMPK
50
Q

What are the laboratory/imaging findings in X-linked adrenoleukodystrophy?

A
  • 50% hypoadrenalism

- Symmetrical cerebral white matter signal change in posterior periventricular white matter.

Paediatrics RACP Exam Study (30 decks)

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