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good paeds > Neurology > Flashcards

Neurology Flashcards

1
Q

Tay Sachs disease most linked to who

A

Jewish

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2
Q

Normal bladder volume equation

A

(Age + 2) x 30

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3
Q

Athetosis is

A

Involuntary writhing

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4
Q

Mortality of epileptic vs normal population

A

2-3 x higher

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5
Q

SUDEP accounts for what percentage of all epilepsy related deaths

A

17%

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6
Q

Ohtahara EEG pattern

A

Burst suppression

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7
Q

Infantile spasm EEG

A

Hypsarhythmia with burst suppression events

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8
Q

Childhood absence EEG

A

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

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9
Q

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

A

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)

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10
Q

CSWS EEG

A

Continuous spike and wave in slow wave sleep

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11
Q

LKS EEG

A

Continuous temporal spike and wave

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12
Q

Juvenile myoclonic epilepsy presentation and EEG and treatment

A

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

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13
Q

Infantile spasm treatment

A

ACTH prednisolone
Vigabactrin (TS)
Ketogenic diet

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14
Q

Dravet syndrome Tx

A

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

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15
Q

Lennox gastaut tx

A

Valproate and clobazam
(Rufinamide, felbamate, ketogenic diet)

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

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16
Q

Landau -kleffner syndrome

A

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

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17
Q

Tics

A

4-24% more male and median onset 6-7 and most resolve by 18

Can manage with clonidine

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18
Q

Incidence of TS

A

1/5800

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19
Q

Genetics of TS

A

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

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20
Q

Clinical features of TS

A 
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
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21
Q

Surveillance in TS

A

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

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22
Q

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

A

NF 1

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23
Q

Triad sturge-weber

A 
Sporadic, 1/50000
(Venous angioplasty of leptomeninges present by 1y)
Portwine
Ipsolateral leptomeningeal angioma (sz)
Glaucoma 30-70%
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24
Q

Incontentia pigmenti genetics

A 
XLD
Xq28
1/100000
Mutation in nuclear factor kappa B signaling path
80% deletion NEMO exons 4-10
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25
Q

Hypotonia with weakness

A

Neuromuscular disease

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26
Q

Hypotonia without weakness

A

CNS
Chromosomal
Syndromes
Metabolic

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27
Q

Myopathic facies

A

Flat face no expression

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28
Q

SMA genetics

A

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

Amount of smn protein depicts severity

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29
Q

SMA types

A

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

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30
Q

Zellweger syndrome

A

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.

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31
Q

Dystrophy vs myopathy

A

Dystrophy high CK cf minimal in myopathy

Dystrophy often abnormal extra cellular protein cf intracellullar in myopathy

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32
Q

Incidence DMD and Becker

A

dMD 1/3000 and Becker 1/30000

Occ affects females with turners or skewed x lyonisation

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33
Q

Myotonic dystrophy genetics

A

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

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34
Q

Congenital myopathies

A

Weak, myopathic facies, bulbar dysfunction, cognition normal

Congenital fibretype disproportion
Nemaline rod
Central core
Centronuclear
Minimulticore 
Other
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35
Q

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

A 
Progressive deformity feet
Pain on walking
Progressive distal weakness and muscle wasting
Gait disturbance
Difficulty walking in dark
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36
Q

CMT 2 nerve pathology

A

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

37
Q

Treatment for transient neonatal myasthenia

A

Neostigmine

38
Q

Most common complication of NF1

A

Scoliosis 10-20%

Seizures 5%

39
Q

NF1 order is apperance

A

CAL at birth (uncommon in NF2)
Freckling
Lisch
Neurofibromas

40
Q

TS order of features

A 
Hypomelatonic macules
Forehead plaque
Sebaceous adenoma
Shagreen patch
Subungal fibromas
41
Q

Adrenoleukodystrophy

A

XL

VLCFA ratio demyelinates CNS and adrenal damage

42
Q

Krabbe

A

Severe myelin destruction
Deaf blind lose reflexes
Die by 2

43
Q

Leigh

A

Deteriorate in infancy
Holes in brain
Lactate on CSF

44
Q

Metachromic leukodystrophy

A 
AR, lysosomal storage disease
Ataxia
Areflexia 
Dev regression
Sz
Symmetrical white lesions MRI
45
Q

Rett

A 
Males die MECP2 gene on x
Most spontaneous
Regress 6m
Impaired expressive language
Hang wringing
Gait abn
46
Q

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

A

III

47
Q

Vein of Galen aneurysmal malformation presentation

A

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
Q

Vertical nystagmus ? Normal or cause

A

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

49
Q

Early sign of uncap herniation is

A

Third nerve palsy (dilated unresponsive pupil)

50
Q

Unstable in dark room

A

Fredericks ataxia

51
Q

Opsoclonus myoclonus ataxia associated with?

A

Neuroblastoma

52
Q

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

A

Tetracycline

Isotrenotoin

53
Q

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

A

Lennox-gustaut

54
Q

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

A

Frontal lobe sz

55
Q

Tic treat if QOL affected with

A

Clonidine

56
Q

Myopathic fancies associated with

A

Myopathies and myasthenia gravis

57
Q

SMA genetics

A

homozgyous for exon 7deletion

– <5% have a point mutation in the SMN1 gene

58
Q

Floppy infant but face bright think…

A

SMA

Congenital muscular dystrophy face not weak

59
Q

Posterior subcapsular cataracts or Christmas lights cataracts associated with what

A

Myotonic dystrophy

60
Q

Treat neonatal MG with

A

Neostigmine

61
Q

Weak facial, shoulder and arm muscles cause?

A

Facioscapulohumeral muscular dystrophy

62
Q

Gene test in SMA

A

Survival muscle number (SMN1 copy number)

63
Q

Most common brain cancer in children

A

Astrocytoma

64
Q

Simple person test scoring

A

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

Can ride TRIcycle at 3y

65
Q

Normal child object permanence mastered by

A

15m

66
Q

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

A

Alexanders disease

67
Q

Stack 6 blocks age

A

2

68
Q

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.

A

Bulbar onset of anterior horn cell disorder

69
Q

Actions of the trochlear, abducens, and oculomotor nerves?

A

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
Q

Anti NMDA encephalitis look for (especially in females)?

A

Ovarian teratoma in anti NMDA encephalitis

71
Q

DMD and Becker gene

A

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

72
Q

Bell’s palsy taste

A

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

73
Q

How does botulism work

A

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

74
Q

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

A

Benign Occipital epilepsy

75
Q

CN nuclei in midbrain, pons, medulla

A

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

76
Q

Most common complication NF1

A

Scoliosis 10-20%

77
Q

Media use 2-5y recommendations

A

<=1 hour per day

78
Q

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

A

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

79
Q

Rett syndrome gene?

A

MECP2

80
Q

Lacosamide mechnism

A

na+ channel blocker

81
Q

Drug for fredreichs ataxia?

A

Idebenone (coQ10 variant)

82
Q

Moyamoya disease with TIAs and constriction related to what three conditions

A

NF1
Sickle cell
Graves

83
Q

Valproate enzyme inhibitor or inducer

A

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

84
Q

Carbamazepine/phenytoin/phenobarbital and OCP

A

Decrease its efficacy

Enzyme induced

85
Q

Sun setting eyes from

A

Raised ICP and parinaud syndrome is a tumour

86
Q

What age does ball descend into sack?

A

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

87
Q

Age can run well

A

24m

88
Q

Active and symbolic play with 3 word sentence age of child

A

3 years

89
Q

Rufinamide and lacosamide mechanism of action and side ffect

A

Voltage gated Sodium channel

Dizziness and headache side effect

good paeds (19 decks)

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