Neurology

Question 1

Which antielileptic drug causes significant weight gain ?

Answer 1

Sodium valproate

Question 2

Which antiepileptic drug causes gingival hyperplasia?

Answer 2

Phenytoin

Question 3

Which antiepileptic drug causes aplastic anaemia ?

Answer 3

Carbamazepine

Question 4

What is the inheritance pattern of duchenne muscular dystrophy?

Answer 4

X linked recessive

Question 5

What is the inheritance pattern of congenital myotonic dystrophy?

Answer 5

Autosomal dominant

Question 6

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

Answer 6

Spastic quadriplegia

Question 7

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

Answer 7

50%

Question 8

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

Answer 8

Carbemazepine

Question 9

What is the HLA type associated with narcolepsy ?

Answer 9

HLA - DQB1

Question 10

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

Answer 10

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

Question 11

What is the inheritance of NF1?

Answer 11

Autosomal dominant

Question 12

What is the deficiency in NF1 vs NF2?

Answer 12

NF1 - neurofibromin (tumour suppressor)

NF2 - schwannomin (membrane organising protein)

Question 13

What is the diagnostic criteria for NF 1?

Answer 13

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

Question 14

What are the diagnostic criteria for NF2?

Answer 14

Bilateral acoustic neuromas or vestibular schwannomas

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

Question 15

What is the inheritance of Tuberous Sclerosis ?

Answer 15

Autosomal dominant

Question 16

What is the genetic defect in TS?

Answer 16

mTOR pathway
TSC1 Hamartin
TSC2 tuberin

Question 17

What are the diagnostic criteria for TS?

Answer 17

Major
Hypomelanitoc macules 
Facial angiofibromas 
Shagreen patch 
Ungual fibroma 
Retinal hamartoma 
Cortical dysplasia (tubers) 
Subependymal nodules 
Cardiac rhabdomyoma 
Angiomyolipomas 
Renal cysts 
Dental enamel pits

Question 18

What is the diagnosis? 
Cerebellar ataxia 
Choreoathetosis 
Sinopulmonary infections 
Raised AFP

Answer 18

Ataxia telangiectasia

Question 19

What is the diagnosis ?
Opisthotonos
Deficiency in galactocerebrosidase

Answer 19

Krabbe disease

Question 20

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

Answer 20

Metachromatic leukodystrophy

Question 21

What is the gene mutated in Adrenoleukodystrophy?

Answer 21

ABCD1

X linked

Question 22

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

Answer 22

Tay Sachs

Question 23

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

Answer 23

Niemann Pick

Question 24

What is the inheritance and gene mutation in Wilson disease ?

Answer 24

Autosomal recessive

ATP7B

Question 25

``` What is the diagnosis? Boy Hypogmented stubbly hair Hyper mobility Walnut brain on MRI ```

Answer 25

Menkes

Question 26

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

Answer 26

Leigh’s Aka Subacute necrotizing encephalomyelitis

Question 27

What is the gene mutation in glucose transporter deficiency?

Answer 27

SLC2A1 - GLUT1 transporter High serum : csf glucose Ketogenic diet

Question 28

``` What is the diagnosis ? Temporary visual loss Eye pain Central scotoma RAPD ```

Answer 28

Optic neuritis

Question 29

What is the inheritance and genetic mutation in SMA?

Answer 29

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

Question 30

What is the treatment for SMA?

Answer 30

Nusinersin - antisense oligonucleotide

Question 31

What is the inheritance of Charcot Marie Tooth?

Answer 31

``` Autosomal dominant (Except type 4 AR) ```

Question 32

what is the diagnostic test for Guillain Barre syndrome ?

Answer 32

Anti ganglioside antibodies | But takes weeks

Question 33

Guillain barre is steroid responsive - true / false

Answer 33

False IVIG

Question 34

What is the treatment for myesthenia gravis?

Answer 34

Pyridostigmine - Anticholinesterase

Question 35

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

Answer 35

Malignant hyperthermia | Dantrolene

Question 36

What is the diagnostic test for duchenne’s ?

Answer 36

MLPA | Multiplex ligation dependent probe amplification analysis

Question 37

What is the treatment for Duchenne?

Answer 37

Steroids - only treatment proven to improve strength

Question 38

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

Answer 38

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

Question 39

What is the most common cause of viral myositis?

Answer 39

Influenza B

Question 40

What are the EEG findings in absence seizures ?

Answer 40

Generalised spike and wave

Question 41

What is the treatment for absence seizures ?

Answer 41

Ethosuxamide

Question 42

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

Answer 42

Juvenile myoclonic epilepsy

Question 43

What is the treatment for juvenile myoclonic epilepsy ?

Answer 43

Sodium valproate | Lamotrigine for women

Question 44

What are the EEG findings of West syndrome ?

Answer 44

Aka infantile spasms | Hypsarrhythmia

Question 45

What is the mutation in Dravet syndrome ?

Answer 45

SCN1A | Sodium channel

Question 46

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

Answer 46

Paired CSF serum glucose

Question 47

What are the EEG findings in Lennox Gestaut syndrome ?

Answer 47

Poorly organised Very slow spike and wave Low voltage

Question 48

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

Answer 48

Landau Kleffner syndrome | Do treat the EEG

Question 49

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

Answer 49

Panayiotopoulos syndrome

Question 50

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

Answer 50

Childhood Epilepsy with Centrotemporal spikes

Question 51

What is the treatment for Childhood Epilepsy with Centrotemporal Spikes ?

Answer 51

Carbamazepine low dose in evening | Only if seizures are problematic

Question 52

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

Answer 52

Phenytoin Dilantin Na channel Blocker

Question 53

What antiepileptic is associated with DRESS syndrome ?

Answer 53

Carbamazepine Sodium channel blocker Enzyme inducer

Question 54

What antiepileptic is associated with pancreatitis and weight gain?

Answer 54

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

Question 55

What antiepileptic is associated with visual field defect and retinopathy ?

Answer 55

Vigabatrin Sabril Inhibits GABA transaminase

Question 56

What antiepileptic gives renal stones and acidosis ?

Answer 56

Topiramate Carbonic anhydrase inhibitor Sodium channel blocker GABA ergic

Question 57

What antiepileptic is associated with behavioural and sleep disturbance ?

Answer 57

Levetiracetam Keppra Binds to synaptic vesicle 2A modulates kainate receptor

Question 58

What antiepileptic enhances slow inactivation or sodium channels?

Answer 58

Lacosamide

Question 59

What nerve gives you a winged scapula?

Answer 59

Long thoracic - innervates serratus anterior

Question 60

What genetic mutation results in lissencephaly?

Answer 60

LIS1

Question 61

What genetic mutation causes x linked lissencephaly with abnormal genitalia?

Answer 61

ARX

Question 62

What genetic mutation gives Retts?

Answer 62

MECP2

Question 63

What is the diagnosis? | Gelastic seizures + precocious puberty

Answer 63

Hypothalamic hamartoma

Question 64

What is the gene mutation for malignant migrating epilepsy ?

Answer 64

KCTN1

Question 65

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

Answer 65

KCNQ2