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Flashcards in Neurology Deck (89):
1

Tay Sachs disease most linked to who

Jewish

2

Normal bladder volume equation

(Age + 2) x 30

3

Athetosis is

Involuntary writhing

4

Mortality of epileptic vs normal population

2-3 x higher

5

SUDEP accounts for what percentage of all epilepsy related deaths

17%

6

Ohtahara EEG pattern

Burst suppression

7

Infantile spasm EEG

Hypsarhythmia with burst suppression events

8

Childhood absence EEG

High amplitude generalised 3Hz spike and slow wave activity
(Childhood 3-10 y, 8+ juvenile)
Valproate/ethosuximide

9

Benign focal epilepsy presentation and EEG and treatment (benign rolandic)

Centro-temporal spike and wave

[or occipital spike and wave in benign occipital or papayiotopoulos with eye deviation pallor vomit 20min when wake from sleep]

Nocturnal partial seizure face/tongue/speech
Epilepsy remits by mid teen

Carbamazepine (lamotrigine, levetiracetam, valproate)

10

CSWS EEG

Continuous spike and wave in slow wave sleep

11

LKS EEG

Continuous temporal spike and wave

12

Juvenile myoclonic epilepsy presentation and EEG and treatment

Myoclonic jerks after waking
Brief burst 4-6Hz and burst polyspike
Valproic acid (lamotrigine, levetiracetam)
Lifelong epilepsy

13

Infantile spasm treatment

ACTH prednisolone
Vigabactrin (TS)
Ketogenic diet

14

Dravet syndrome Tx

Valproate clobazam
Ketogenic diet
(Severe myoclonic epilepsy of infancy 1-4y with developmental arrest and slow EEG)

15

Lennox gastaut tx

Valproate and clobazam
(Rufinamide, felbamate, ketogenic diet)

(2-8y) multiple sz type, drop attacks, EEG slow

16

Landau -kleffner syndrome

Acquired epileptic aphasia, regression in language, 2-8y, behaviour, EEG continuous status of sleep, difficult to treat

17

Tics

4-24% more male and median onset 6-7 and most resolve by 18
Can manage with clonidine

18

Incidence of TS

1/5800

19

Genetics of TS

Dominant, 75% new, TSC1 hamartin 20%, TSC2 tuberin (60%)

20

Clinical features of TS

Hypomelantic lesions (present at birth) 90%
Facial angiofinromas 75% 2-5y
Unbalanced finroma
Shagreen patch
Dental enamel pits
Intraoral finromas
Retinal hamartoma
Achromic retinal patch
Cortical dysphasia and supepemdymal nodules and SEGA

21

Surveillance in TS

MRI 1-3 y for renal angiomyolipomas, SEGA monitor, clinical screen LAM, annual eye check, check BP, echo 1-3 y
Treat with mTOR inhibitor

22

Bony (sphenoid) dysphasia or bowing long bone criteria for..

NF 1

23

Triad sturge-weber

Sporadic, 1/50000
(Venous angioplasty of leptomeninges present by 1y)
Portwine
Ipsolateral leptomeningeal angioma (sz)
Glaucoma 30-70%

24

Incontentia pigmenti genetics

XLD
Xq28
1/100000
Mutation in nuclear factor kappa B signaling path
80% deletion NEMO exons 4-10

25

Hypotonia with weakness

Neuromuscular disease

26

Hypotonia without weakness

CNS
Chromosomal
Syndromes
Metabolic

27

Myopathic facies

Flat face no expression

28

SMA genetics

Lack of Survival of Motor Neuron (smn) due to smn1 deletion .--> widespread splicing defects

Amount of smn protein depicts severity

29

SMA types

0: birth onset (by 6m), tongue fasiculations, alert face, areflexic, breath and feed issues, die by 2y
1: 60-70%, never sit
2: never walk
3: walk (survive into mid adulthood)

Homozygous exon 7 deletion

30

Zellweger syndrome

Newborns with Zellweger syndrome present with a characteristic craniofacial dysmorphism. Neurologic abnormalities include hypotonia and weakness with absent reflexes, severe impairment of hearing and vision, neonatal seizures, and developmental delay. Hepatomegaly is common.

31

Dystrophy vs myopathy

Dystrophy high CK cf minimal in myopathy
Dystrophy often abnormal extra cellular protein cf intracellullar in myopathy

32

Incidence DMD and Becker

dMD 1/3000 and Becker 1/30000

Occ affects females with turners or skewed x lyonisation

33

Myotonic dystrophy genetics

AD variable penetrated and expression with anticipation (19q13)
Christmas light cataracts, testicular atrophy, hypothyroidism, arrhythmia, striated muscle weakness

34

Congenital myopathies

Weak, myopathic facies, bulbar dysfunction, cognition normal

Congenital fibretype disproportion
Nemaline rod
Central core
Centronuclear
Minimulticore
Other

35

Neuropathy clinical presentation I.e CMT1 (palpable nerves with onion bulbs)

Progressive deformity feet
Pain on walking
Progressive distal weakness and muscle wasting
Gait disturbance
Difficulty walking in dark

36

CMT 2 nerve pathology

Axonal degeneration produces decreased amplitude of nerve action potential on nerve conduction studies

37

Treatment for transient neonatal myasthenia

Neostigmine

38

Most common complication of NF1

Scoliosis 10-20%
Seizures 5%

39

NF1 order is apperance

CAL at birth (uncommon in NF2)
Freckling
Lisch
Neurofibromas

40

TS order of features

Hypomelatonic macules
Forehead plaque
Sebaceous adenoma
Shagreen patch
Subungal fibromas

41

Adrenoleukodystrophy

XL
VLCFA ratio demyelinates CNS and adrenal damage

42

Krabbe

Severe myelin destruction
Deaf blind lose reflexes
Die by 2

43

Leigh

Deteriorate in infancy
Holes in brain
Lactate on CSF

44

Metachromic leukodystrophy

AR, lysosomal storage disease
Ataxia
Areflexia
Dev regression
Sz
Symmetrical white lesions MRI

45

Rett

Males die MECP2 gene on x
Most spontaneous
Regress 6m
Impaired expressive language
Hang wringing
Gait abn

46

CN palsy presenting with ptosis, inability to rotate eye up and inward dilated unreactive pupil and paralysis of accom

III

47

Vein of Galen aneurysmal malformation presentation

Vein of Galen aneurysmal malformation (VGAM) is a type of arteriovenous
malformation that typically presents with high output cardiac failure in the neonatal
period or infancy. Hydrocephalus, signs of increased intracranial pressure, seizures, and
developmental delay can be present in infants and older children. Hemorrhage on
presentation is rare.

48

Vertical nystagmus ? Normal or cause

Vertical nystagmus can be caused by Chiari I malformation and is never
normal; evaluation for brainstem abnormality is required.

49

Early sign of uncap herniation is

Third nerve palsy (dilated unresponsive pupil)

50

Unstable in dark room

Fredericks ataxia

51

Opsoclonus myoclonus ataxia associated with?

Neuroblastoma

52

Idiopathic (previously benign) intracranial HTN/pseudotumour cerebri caused by what two drugs

Tetracycline
Isotrenotoin

53

Childhood seizures, Frequent drop attacks sig problem for care
• EEG slow spike & wave, <2.5Hz
• Usually assoc with profound retardation
? Syndrome

Lennox-gustaut

54

Stereotyped Clusters of motor seizures, often nocturnal
• Brief (<30sec), sudden onset
• Minimal post-ictal confusion
• Bizarre complex prominent motor activity
• Prominent vocalisation common
Cause?

Frontal lobe sz

55

Tic treat if QOL affected with

Clonidine

56

Myopathic fancies associated with

Myopathies and myasthenia gravis

57

SMA genetics

homozgyous for exon 7deletion
– <5% have a point mutation in the SMN1 gene

58

Floppy infant but face bright think...

SMA

Congenital muscular dystrophy face not weak

59

Posterior subcapsular cataracts or Christmas lights cataracts associated with what

Myotonic dystrophy

60

Treat neonatal MG with

Neostigmine

61

Weak facial, shoulder and arm muscles cause?

Facioscapulohumeral muscular dystrophy

62

Gene test in SMA

Survival muscle number (SMN1 copy number)

63

Most common brain cancer in children

Astrocytoma

64

Simple person test scoring

Face (circle) for 3y then add 3m for every feature after that

Can ride TRIcycle at 3y

65

Normal child object permanence mastered by

15m

66

In which disease are there protein deposits known as Rosenthal fibers found in specialized cells called astroglial cells?

Alexanders disease

67

Stack 6 blocks age

2

68

What disorder

The first sign is usually slurring of the speech (impaired tongue movement).
Wasting and fasciculation of the tongue.
Dysphagia (usually a late feature with significant speech difficulties).
Accompanying emotional lability (inappropriate laughing or crying) - as with pseudobulbar palsies.
Other symptoms are difficulty eating, drooling, dysarthria, dysphonia, choking events with meals, nasal regurgitation of fluids or pulmonary aspiration.

Bulbar onset of anterior horn cell disorder

69

Actions of the trochlear, abducens, and oculomotor nerves?

SALT ME DOWN: Six Abducts Laterally, Trochlear (CN IV) acts Medially Down. The oculomotor nerve (CN III) is responsible for everything else.
LR6 SO4

70

Anti NMDA encephalitis look for (especially in females)?

Ovarian teratoma in anti NMDA encephalitis

71

DMD and Becker gene

Xq21
(Most die by 21)
Frameshift (preserved frameshift in Becker)

72

Bell's palsy taste

Taste on anterior 2/3 tongue lost in 50%.

73

How does botulism work

Inhibition – toxin inhibits the release of acetylcholine, diminishing the endplate potential and causing impaired neuromuscular and autonomic transmission

74

Child with episodes eye deviation progressing to altered awareness followed by pallor and vomiting that last 20‐30 minutes

Benign Occipital epilepsy

75

CN nuclei in midbrain, pons, medulla

Midbrain 3,4
Pons 5,6,7
Medulla 8-12

76

Most common complication NF1

Scoliosis 10-20%

77

Media use 2-5y recommendations

<=1 hour per day

78

Neonate seizing and LoW all phos (ALP) need to give?

Pyridoxine as low Alkaline phosphaTASE causes build up of pyridoxine-5-phosphate required for GABA production

79

Rett syndrome gene?

MECP2

80

Lacosamide mechnism

na+ channel blocker

81

Drug for fredreichs ataxia?

Idebenone (coQ10 variant)

82

Moyamoya disease with TIAs and constriction related to what three conditions

NF1
Sickle cell
Graves

83

Valproate enzyme inhibitor or inducer

Broad enzyme Inhibitor
Risk of drug toxicity
Displaces phenytoin from protein binding sites

84

Carbamazepine/phenytoin/phenobarbital and OCP

Decrease its efficacy
Enzyme induced

85

Sun setting eyes from

Raised ICP and parinaud syndrome is a tumour

86

What age does ball descend into sack?

By 3 months - if not there refer for surgery 3-6months old

87

Age can run well

24m

88

Active and symbolic play with 3 word sentence age of child

3 years

89

Rufinamide and lacosamide mechanism of action and side ffect

Voltage gated Sodium channel
Dizziness and headache side effect