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Paediatrics > Neurology > Flashcards

Neurology Flashcards

1
Q

Which antielileptic drug causes significant weight gain ?

A

Sodium valproate

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2
Q

Which antiepileptic drug causes gingival hyperplasia?

A

Phenytoin

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3
Q

Which antiepileptic drug causes aplastic anaemia ?

A

Carbamazepine

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4
Q

What is the inheritance pattern of duchenne muscular dystrophy?

A

X linked recessive

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5
Q

What is the inheritance pattern of congenital myotonic dystrophy?

A

Autosomal dominant

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6
Q

Children with which type of cerebral palsy are most at risk of hip replacement?

A

Spastic quadriplegia

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7
Q

What percentage of children with autism will have accompanying intellectual impairment?

A

50%

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8
Q

Which anticonvulsant is most likely to decrease the half life of lamotrigine in a clinically significant manner ?

A

Carbemazepine

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9
Q

What is the HLA type associated with narcolepsy ?

A

HLA - DQB1

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10
Q

Pimple disease is associated with facial weakness - T/F?

A

False
Mutation in GAA gene - prevents alpha glucosidase from breaking down glycogen - builds up in lysosomes
Presents with severe generalise myopathy and cardiomyopathy hepatomegaly

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11
Q

What is the inheritance of NF1?

A

Autosomal dominant

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12
Q

What is the deficiency in NF1 vs NF2?

A

NF1 - neurofibromin (tumour suppressor)

NF2 - schwannomin (membrane organising protein)

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13
Q

What is the diagnostic criteria for NF 1?

A 
2 of: 
5 + cafe au lait spots
2 + neurofibromas 
Lisch nodules 
Axillary / inguinal freckling 
Optic glioma 
Family history
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14
Q

What are the diagnostic criteria for NF2?

A

Bilateral acoustic neuromas or vestibular schwannomas

Or 
Fam hx + 
Unilateral vestibular schwannoma 
Meningioma 
Glioma 
Juvenile cortical cataract 
Lenticular opacity
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15
Q

What is the inheritance of Tuberous Sclerosis ?

A

Autosomal dominant

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16
Q

What is the genetic defect in TS?

A

mTOR pathway
TSC1 Hamartin
TSC2 tuberin

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17
Q

What are the diagnostic criteria for TS?

A 
Major
Hypomelanitoc macules 
Facial angiofibromas 
Shagreen patch 
Ungual fibroma 
Retinal hamartoma 
Cortical dysplasia (tubers) 
Subependymal nodules 
Cardiac rhabdomyoma 
Angiomyolipomas 
Renal cysts 
Dental enamel pits
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18
Q 
What is the diagnosis? 
Cerebellar ataxia 
Choreoathetosis 
Sinopulmonary infections 
Raised AFP
A

Ataxia telangiectasia

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19
Q

What is the diagnosis ?
Opisthotonos
Deficiency in galactocerebrosidase

A

Krabbe disease

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20
Q 
What is the diagnosis? 
Milestone regression 
Optic atrophy 
Cherry red spot 
CSF: deficiency of aryl sulfatase A
A

Metachromatic leukodystrophy

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21
Q

What is the gene mutated in Adrenoleukodystrophy?

A

ABCD1

X linked

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22
Q

What is the diagnosis ?
Abnormal startle response to light
Cherry red spot
Hexosaminisase A deficiency

A

Tay Sachs

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23
Q

What is the diagnosis?
Oculomotor apraxia
Cherry red spot
Sphingomyelinase deficiency

A

Niemann Pick

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24
Q

What is the inheritance and gene mutation in Wilson disease ?

A

Autosomal recessive

ATP7B

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25
Q 
What is the diagnosis? 
Boy 
Hypogmented stubbly hair 
Hyper mobility 
Walnut brain on MRI
A

Menkes

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26
Q

What is the diagnosis ?
Optic atrophy
Increases signal in basal ganglia T2 MRI
High CSF lactate

A

Leigh’s
Aka
Subacute necrotizing encephalomyelitis

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27
Q

What is the gene mutation in glucose transporter deficiency?

A

SLC2A1 - GLUT1 transporter

High serum : csf glucose

Ketogenic diet

28
Q 
What is the diagnosis ? 
Temporary visual loss 
Eye pain 
Central scotoma 
RAPD
A

Optic neuritis

29
Q

What is the inheritance and genetic mutation in SMA?

A

Autosomal recessive
Survival motor neurone gene
SMN 1 - absent
SMN2 - varying degrees

30
Q

What is the treatment for SMA?

A

Nusinersin - antisense oligonucleotide

31
Q

What is the inheritance of Charcot Marie Tooth?

A 
Autosomal dominant 
(Except type 4 AR)
32
Q

what is the diagnostic test for Guillain Barre syndrome ?

A

Anti ganglioside antibodies

But takes weeks

33
Q

Guillain barre is steroid responsive - true / false

A

False

IVIG

34
Q

What is the treatment for myesthenia gravis?

A

Pyridostigmine

  • Anticholinesterase
35
Q

What is the risk with central core disease ? And what is the treatment ?

A

Malignant hyperthermia

Dantrolene

36
Q

What is the diagnostic test for duchenne’s ?

A

MLPA

Multiplex ligation dependent probe amplification analysis

37
Q

What is the treatment for Duchenne?

A

Steroids - only treatment proven to improve strength

38
Q

What is the inheritance of congenital myotonic dystrophy ? And what is the mutation ?

A

Autosomal dominant
CTH triplet repeat in DMPK gene
> 50 repeats full penetrance
Anticipation with maternal transmission

39
Q

What is the most common cause of viral myositis?

A

Influenza B

40
Q

What are the EEG findings in absence seizures ?

A

Generalised spike and wave

41
Q

What is the treatment for absence seizures ?

A

Ethosuxamide

42
Q

What is the diagnosis ?
Myoclonic jerks on wakening
Exacerbated by sleep dep

A

Juvenile myoclonic epilepsy

43
Q

What is the treatment for juvenile myoclonic epilepsy ?

A

Sodium valproate

Lamotrigine for women

44
Q

What are the EEG findings of West syndrome ?

A

Aka infantile spasms

Hypsarrhythmia

45
Q

What is the mutation in Dravet syndrome ?

A

SCN1A

Sodium channel

46
Q

What test should you order if you suspect Doose syndrome (jerk and drop myoclonic atonic seizures)

A

Paired CSF serum glucose

47
Q

What are the EEG findings in Lennox Gestaut syndrome ?

A

Poorly organised
Very slow spike and wave
Low voltage

48
Q

What is the diagnosis ?
Loss of acquired language skills
Auditory verbal agnosia

A

Landau Kleffner syndrome

Do treat the EEG

49
Q

What is the diagnosis ?
Seizure during sleep
Associated vomiting eye deviation
EEG shows continuous spike and wave in occipital lobe

A

Panayiotopoulos syndrome

50
Q 
What is the diagnosis? 
Focal seizure during sleep
Face mouth tongue guttural sounds 
Consciousness retained
Transient post ictal mouth droop
A

Childhood Epilepsy with Centrotemporal spikes

51
Q

What is the treatment for Childhood Epilepsy with Centrotemporal Spikes ?

A

Carbamazepine low dose in evening

Only if seizures are problematic

52
Q

What is the drug with side effects of gingival hypertrophy, hirsutism and acne ?

A

Phenytoin
Dilantin
Na channel Blocker

53
Q

What antiepileptic is associated with DRESS syndrome ?

A

Carbamazepine
Sodium channel blocker
Enzyme inducer

54
Q

What antiepileptic is associated with pancreatitis and weight gain?

A

Sodium valproate
Epilim
Sodium channel blocker + GABA ergic
Enzyme inhibitor - lamotrigine toxicity

55
Q

What antiepileptic is associated with visual field defect and retinopathy ?

A

Vigabatrin
Sabril

Inhibits GABA transaminase

56
Q

What antiepileptic gives renal stones and acidosis ?

A

Topiramate
Carbonic anhydrase inhibitor
Sodium channel blocker
GABA ergic

57
Q

What antiepileptic is associated with behavioural and sleep disturbance ?

A

Levetiracetam
Keppra
Binds to synaptic vesicle 2A modulates kainate receptor

58
Q

What antiepileptic enhances slow inactivation or sodium channels?

A

Lacosamide

59
Q

What nerve gives you a winged scapula?

A

Long thoracic - innervates serratus anterior

60
Q

What genetic mutation results in lissencephaly?

A

LIS1

61
Q

What genetic mutation causes x linked lissencephaly with abnormal genitalia?

A

ARX

62
Q

What genetic mutation gives Retts?

A

MECP2

63
Q

What is the diagnosis?

Gelastic seizures + precocious puberty

A

Hypothalamic hamartoma

64
Q

What is the gene mutation for malignant migrating epilepsy ?

A

KCTN1

65
Q

What is the genetic mutation associated with 5th day fits aka benign familial neonatal convulsions

A

KCNQ2

Paediatrics (17 decks)

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