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BPT exams > Neurology > Flashcards

Neurology Flashcards

1
Q

What findings would you seen on nerve conduction studies with Gullian Barre Syndrome?

A

Slowing of motor and sensory nerve conduction velocities with evidence of conduction block.

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2
Q

________ is an autoimmune disorder that is thought to be a postinfectious polyneuropathy, involving mainly motor but also sensory and sometimes autonomic nerves.

A

Gullian Barre

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3
Q

An 8-year-old boy with headache and visual disturbance. The headache is preceded by an aura. Changes on his EEG are seen when he closes his eyes.

A

Gastaut syndrome

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4
Q

A 5-year-old boy who has episodes where he is unresponsive, with reduced tone and vomiting at night. His EEG shows occipital spikes.

A

Panayiotopoulos syndrome

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5
Q

__________ are products of guanosine triphosphate (GTP) catabolism that result from cellular immune activation by pro-inflammatory cytokines.

A

Neopterins

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6
Q

Scaphocephaly is premature closure of _______ suture

A

Sagittal

Boathead

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7
Q

Brachocephaly is premature closure of ______ suture

A

bilateral coronal - flat head

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8
Q

Trigonocephaly is premature closure of ______ suture

A

Metopic suture

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9
Q

Oxycephaly is premature closure of ________ suture

A

Coronal and sagittal sutures

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10
Q

Klebbatschadel is premature closure of _______ suture

A

Metopic, lambdoin and coronal

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11
Q

What is the oculocephalic reflex?

A

The head is turned briskly from side to side, or up and down, and held briefly at the end each turn. The eyes normally should rotate in the opposite direction to the head.

Evaluates whether brainstem in tact

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12
Q

Myotonic dystrophy can be differentiated from other dystrophies by

A

It often affects the distal muscles first!

Also normal to mildly high CK

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13
Q

Most common genetic abnormality with CMT?

A

PMP22 duplication on chromosome 7

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14
Q

What is the EEG finding in Landau Kleffner?

A

Status in sleep

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15
Q

What is the Epileptic disorder?

Seizures, regression of language at age 6yo

A

Landau Kleffner

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16
Q

Subgaleal haemorrhage is due to bleeding between the periosteum and the _________ and is due to rupture of which vessels

A

Bleeding between perioestum and aponeurosis

Due to rupture of emissary vessels

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17
Q

Fluid between the periosteum and scalp is called ________

A

Caput

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18
Q

Fluid between periosteum and skull is called ______

A

Cephalo

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19
Q

MECP2 gene mutation associated with _________.

And what is the inheritance pattern?

A

Rett syndrome.

XLinked Dominant

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20
Q

The hallmark of Rett syndrome is _______________

A

Repetitive hand-wringing movements and a loss of purposeful and spontaneous use of the hands; these features may not appear until 2-3 yr of age

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21
Q

Anti-NMDA encephalitis can be triggered by ________

A

Mostly sporadic, but can be triggered by tumours or HSV encephalitis

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22
Q

Encephalitis with mGluR5 antibodies (Ophelia syndrome) has an association with _______

A

Hodgkin Lymphoma

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23
Q

With Myelomeningocoele risk of recurrence is _______

A

the risk of recurrence after one affected child is 3–4% and increases to 10% with two prior affected children

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24
Q

Fasciculations occur with ___________

A

Fasciculations occur with anterior horn cell damage

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25
Q

_________ (AED) can increase the concentration of Carbamazepine. Whereas Carbamazepine lowers the concentration of this said drug.

A

Lamotrigine

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26
Q

Lamotrigine concentrations are increased by ________ (AED); thus lower dose needed

A

Valproate

increased half life because they both compete for glucuronidation - competitive enzyme inhibition

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27
Q

What is the difference between Chiari type I and Arnold Chiari (Type II)?

A

Chiari 1 - Herniation of cerebellar tonsils. Tonsillar ectopia below the foramen magnum, with greater than 5 mm below

Chairi II - Beaked midbrain, and downward displacement of cerebellar vermis and tonsils; assoc. with myelomeningocele

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28
Q

Chiari Type I associated with _______

A

Connective tissue disorders, Syringomyelia

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29
Q

DDx for Bilateral centrotemporal spikes and sharp waves

A

1, bening rolandic epilepsy

  1. Landau-Kleffner - associated with language regression
  2. Epileptic encephalopathy with continuous spikes and waves during sleep (CSWS)
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30
Q

Slow spike and wave on EEG is associated with _______

A

Lennox-Gastaut syndrome

advancement of West Syndrome

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31
Q

What medication is associated with worsening seizures in Dravet syndrome?

A

Lamotrigine

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32
Q

_______ syndrome (Epileptic seziure disorder) can be mistaken for migraines. What are some of it’s features?

A

Gastaut syndrome

Gastaut syndrome can be mistaken for migraine but has EEG changes similar to Panayiotopoulos syndrome. Unlike Panayiotopoulos syndrome, seizures occur during the day and EEG changes are activated by eye closure

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33
Q

Narcolepsy with cataplexy (type 1) is thought to be related to a specific deficit in the hypothalamic ___________ neurotransmitter

A

orexin/hypocretin

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34
Q

Diagnostic tests for Narcolepsy:

  • Questionaire?
  • To exclude other diagnosis?
  • To confirm narcolepsy?
  • Lab markers?
A

Questionaire: Modified Epworth Sleepiness Scale (to investigate need for evaluation)

To exclude other diagnosis:
Polysomnomgram

To confirm narcolepsy: Multiple sleep latency study

Lab markers: low CSF hypocretin levels

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35
Q

Most common cardiac complication in NF1?

A

Pulmonary stenosis

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36
Q

What are 4 common causes of Bells palsy?

A
  • Idiopathic
  • Herpes simplex virus type 1* (Ramsay Hunt)
  • Varicella-zoster virus*
  • Lyme disease
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37
Q

Which of the following is seen in Bell’s palsy:

T/F:

  • Taste in the posterior third of the tongue is lost
  • Lacrimation is spared.
  • Facial numbness and paresthesias are common
A

Taste on the anterior two thirds of the tongue is lost on the involved side in approximately 50% of cases;

  • This finding helps establish the anatomic limits of the lesion as being proximal or distal to the chorda tympani branch of the facial nerve.
  • Lacrimation is spared.
  • Facial numbness and paresthesias are rare, but when present suggest concomitant involvement of the trigeminal nerve.
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38
Q

Which cranial nerve is responsible for facial sensation and mastication?

A

Trigeminal nerve (Cr nerve V)

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39
Q

Taste from anterior ⅔ of
tongue
(chorda tympani) is due to the _______ nerve

A

Cranial nerve 7

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40
Q

What are the three key functions of Cranial nerve 9?

A
  • Taste and sensation of posterior ⅓ of tongue
  • Monitoring of carotid body and sinus chemoreceptors and baroreceptors
  • Elevation of pharynx/larynx
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41
Q

Which nerve is responsible for :

  • Parasympathetic innervation to thoracoabdominal viscera
  • Monitoring aortic arch chemoreceptors and baroreceptors
  • Swallowing/coughing/speech?
A

Vagus nerve (X)

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42
Q

Tongue movements are controlled by:

A

Cranial nerve XII

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43
Q

___________ is characterized by bilateral facial weakness, which is often associated with paralysis of the abducens nerve.

Hypoplasia or agenesis of brainstem nuclei, as well as absent or decreased numbers of muscle fibers, has been reported.

A

Mobius syndrome

The facial appearance of Möbius syndrome has been improved by facial surgery.

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44
Q

_____________ is characterized by congenital limitation of horizontal globe movement and some globe retraction (and ptosis) on attempted adduction and is believed to be the result of abnormal innervation by the oculomotor nerve to the lateral rectus muscle.

A

Duane retraction syndrome

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45
Q

The incidence of SMA is estimated to be 1 in 6,000-10,000 newborns, with a carrier frequency of approximately _______

A

1/40-1/60

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46
Q

SMA is caused by a homozygous deletion in the __________ gene on chromosome 5q13.

Ongoing function/subtyping depends on _____-

A

survival motor neuron 1 (SMN1

Subtyping depends on number of genes

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47
Q

SMA type ___ is the most common with life expectancy between:

A

SMA Type I is the most common

Type IA - life expectancy 6months
Type IIA - life expectancy <2 yr

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48
Q

SMA type II are known as the _______.

What are 5 common signs and symptoms seen?

A

Known as sitters

  • Proximal weakness, hypotonia
  • Postural hand tremor
  • Hyporeflexia
  • Average or above-average intellectual skills by adolescence
  • Scoliosis
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49
Q

What is the function of SMN gene?

A

The survivor motor neuron gene (SMN) arrests apoptosis of motor neuroblasts.

A surplus of motor neuroblasts and other neurons is generated from primitive neuroectoderm, but only about half survive and mature to become neurons; the excess cells have a limited life cycle and degenerate. If the process that arrests physiologic cell death fails to intervene by a certain stage, neuronal death can continue in late fetal life and postnatally.

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50
Q

Kugelberg-Welander disease is the mildest SMA (type III), often presents after _____

A

18mo

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51
Q

What is the current gold standard testing for SMA?

A

The current gold standard is SMN1 deletion/mutation and SMN2 copy number testing, with a minimal standard of SMN1 deletion testing.

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52
Q

The absence of SMN1 ___________ confirms the diagnosis of SMA.

A

exon 7 (with or without deletion of exon 8)

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53
Q

The critical difference between SMN1 and SMN2 is a ________ to ________ transition in exon 7 of SMN2

A

The critical difference between SMN1 and SMN2 is a cytosine (C) to thymine (T) transition in exon 7 of SMN2

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54
Q

What does NBST look for with SMA?

A

DNA extraction - PCR - to identify homoxygous SMN1 deletion

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55
Q

How does nusinersen work?

A

It modifies the splicing of SMN2 by inducing an increase in exon 7 retention in SMN2 pre-mRNA, which finally allows a protein product similar to SMN1.

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56
Q

Signs and symptoms of cholinergic excess?

DUMBBELS

A 
Diarrhea/defecation, 
Urination,
Miosis,
Bronchorrhea/bronchospasm, Bradycardia, 
Emesis, 
Lacrimation, and 
Salivation
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57
Q

What is the risk of cerebral palsy from Pirie cephalon cyst?

A

60-70%

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58
Q

How do you differentiate grade 2 and grade 3 IVH?

A

Grade 2 and grade 3 have intraventricular haemorrhage, but in grade 3 you have ventricular dilatation.

59
Q

What is periventricular leukomalacia?

A

It is white matter Injury to the brain. Initially presents as flare and progresses into cysts in 6 weeks

60
Q

Poroencephalic cyst predisposes you to which type of cerebral palsy?

A

Hemiplegia

61
Q

Which medication is associated with worsening seizures in Dravet syndrome?

A

Lamotrigine (avoid sodium channel blocker)
Phenytoin
Carbamazepine

62
Q

Heterozygous loss of SCN1A gene leads to ….

A

Dravet syndrome

(abnormality in sodium channel - NAV1.1

63
Q

What is the first line treatment for Dravet syndrome?

A

Valproate, Topiramate, ethosuximide, Keppra

64
Q

What is the seizure disorder?

<10mo with prolonged hemiconvulsive seizures; initially febrile -> then febrile and afebrile.

A

Dravet syndrome

65
Q

What are three common anti-seizure medication that are sodium channel blockers?

A

Carbamazepine (tegretol)
Lamotrigine
Phenytoin

66
Q

Glutamate is excitatory or inhibitory NT?

A

Excitatory

67
Q

For those of south east asian background - which HLA type would you need to check before starting Carbamezepine?

A

HLA B12 (SJS/TENS risk) - asian more so

HLA A31:01 (DRESS) - Scandinavian background more so

68
Q

Which antiepileptic drug:

  • Dose dependent enzyme inhibitrion of GABA transaminase (thus increased GABA)
A

Vigabitran

69
Q

Which antiepileptic drug:

  • Blockage of voltage gated sodium channels and increased GABA( by inhibiting GABA degradative enzymes +/- inhibiting reuptake of GABA)
A

Na Valproate

70
Q

How does Clobazam work?

A

Facilitates GABA-ergic transmission

71
Q

_____ waves (on EEG) are seen in metabolic (hepatic) or other diffuse encephalopathy

A

Triphasic waves

72
Q

on EEG - Diffuse fast beta activity is associated with ?

A

Typically drug induced

73
Q

What are the two most common drugs that can leads to congenital malformation?

A

Valproate - NTD (dose dependent)

Lamotrigine - Clefts

74
Q

____ of kids with febrile seizure will have recurrence of febrile seizure

A

30% will have recurrence of febrile seizure (50% of these in the first year)

Risk factors for recurrent febrile seizures?

  • Temperature <39
  • Brief duration of recognised fever
  • Age <18months
  • First degree family history of febrile seizures
75
Q

How does Panayiotopolus syndrome (focal autonomic nervous system) typically present?

A
  • Autonomic - vomitting, dilated pupuils, high or low heart rate, salivation, eye deviation -> can progress to GTCS and become prolonged seizures.
  • 2/3 begin in or near sleep
  • Often common to have frequent miltifocal spikes in the occipital region
  • Normal history, development and examination generally
76
Q

How do you differentiate Gastaut Occipital epilepsy and Panayiotopolus syndrome?

Both can have occipital changes on EEG

A

Gastaut - more visual seizures, day and night; eye deviation and orbital pain. Seizure can. Sound like migraines. Worse long term outcomes.

Panayiotopolus: Autonomic - vomitting, dilated pupuils, high or low heart rate, salivation, eye deviation -> can progress to GTCS and become prolonged seizures.
- 2/3 begin in or near sleep

77
Q

What is the treatment of choice for Gastaut occipital epilepsy?

A

Carbamazepine - good for focal seizures

78
Q

SLC2A1 mutation linked to …

how do you treat?

A

Glut-1 Deficiency

Treat with Ketogenic diet

79
Q

Sexually active girl with focal seizure…AED of choice?

A

Keppra then Lamotrigine or Carbamazepine

80
Q

Common presentation for PRES?

A 
Encephalopathy
Altered consciousness
Hypertension
Epileptic seizure
Visual disturbances
headache
81
Q

KCNQ2 is associated with….

A

1) Benign familial neonatal epilepsy - mild
(present D2-D8 and disappear by 12mo - treat with phenobarbitone)

2) Neonatal epileptic encephalopathy (severe)
((More severe seizures, harder to treat and more D; Rx: Na Channel blockers should be first line)

82
Q

‘Epilepsy of infancy with migrating focal seizures’ and ‘AD-noctural frontal lobe epilepsy’ are associated with which gene defect?

A

KCNT1-related epilepsy

83
Q

RYR1 missense mutation is associated with…

A

Central core disease (congenital myopathy)

84
Q

Malignant hyperthermia susceptibility is associated with which type of neuromuscular disorder?

A

Congenital myopathy - linked to RYR1 gene mutation

85
Q

Malignant hyperthermia occurs due abnormalities in which channel?

A

Ca channel influx of Ca leads to symptoms

RYRY1

86
Q

In MRI - white matter changes with ‘tiger’ like stripes =

A

MLD

87
Q

How does ADEMs typically present?

A

Encephalopathy + polyfocal neurological changes

Common neurologic signs in ADEM include visual loss, cranial neuropathies, ataxia, and motor and sensory deficits, plus bladder/bowel dysfunction with concurrent spinal cord demyelination.

Often have a viral infection in the months prior to infection

88
Q

Which disease?

Cranial MRI, the imaging study of choice, typically exhibits bilateral, large, multifocal, and sometimes confluent, edematous mass-like T2 lesions with variable enhancement within white and gray matter of the cerebral hemispheres, cerebellum, and brainstem

A

ADEMs

89
Q

In the following conditions how elevated is the CK level?

  • Spinal muscular atrophy?
  • Muscular dystrophy?
  • Congenital myopathy?
A

Spinal muscular atrophy - can be normal, but usually 2-4 fold elevated

Muscular dystrophy - high thousands

Congenital myopathy - normal or very mildly raised

90
Q

Which anti-epileptic can create visual field constriction from peripheral retinal atrophy, optic neuritis, vision loss (rods > cones, therefore night vision mostly affected)?

A

Vigabatrin

91
Q

Basal ganglia calcifications - two main things?

A

Aicardi Goutieres syndrome Or CMV

92
Q

Heart block + ptosis + Chronic progressive opthalmoplegia + hearing loss + proximal muscle weakness

A

Kearns -Sayre Syndrome

93
Q

Hypokalaemic, periodic paralysis with QT prolongation

A

Andersen-Tawil

94
Q

Salt and pepper pigmentary retinopathy

+ progressive opthalmoplegia

A

Kearns-Sayre Syndrome

Red ragged fibres on muscle biopsy

95
Q

Most common early childhood NF-1 related tumour?

A

1) Benign neurofibroma

2) Optic pathway glioma (15% in children under 6)

96
Q

Posterior T2 flair anomalies bilaterally?

A

X-linked adrenoleukodystrophy

Demyelinating disorder

97
Q

Malignant hyperthermia is associated with which NMD?

A

Central core myopathy (RyRy gene)

98
Q

Differences between SJS/TENS/DRESS?

A

Dress - Eosinophilia, more than 3 weeks past the commencement of drug. More hepatitis and more generalised rash

SJS/TENS - prior to 3 weeks, pseudo target lesion

99
Q

Most common brain tumour with TsC

A

Giant cell astrocytoma

Cortical glioneuronal hamartomas and subependymal nodules in 90%

100
Q

Which antibiotic is contraindicated in a child with Myasthenia Gravis on Pyridostigmine?

A

Gentamicin

Increased NM blockage - competitively restrains the release of Acetylcholine

101
Q

Dysfunction of RAS-MAPK pathway?

A

NF1

102
Q

Differentiating between ADEM and NMDA encephalitis?

A

ADEM have more encephalopathy rather than unusual behaviours. Also more focal neurological signs and MRI scan should show some demyelination

103
Q

2yo old + Nystagmus, hypotonia, and head bobbing =

A

Pelizaueus Merzbacher

Hypomyelinating disorder

104
Q

4yo + ataxia + recurrent falls + absence and myoclonic seizure + cerebellar changes =

Hint: An almost pathognomonic EEG finding is a photoparoxysmal response at low flash frequencies.

A

Batten disorder
(Neuronal ceroid lipofuscinosis )

CLN2

Regression of milestones with developmental plateau, with motor impairment and seizures difficult to manage.

Can treat with intraventricular TPP1 proenzyme replacement ( ceroliponase alfa)

105
Q

Hyperextension of the knee, peripheral neuropathy, demyelination in brain + developemental regression

A

Metachromatic leukodystrophy

106
Q

Small fiber periphral neuropathy, burning of palms and soles, hypohidrossis + in a boy =

A

Fabre disease (XLR)

107
Q

What age does Krabbe normally present?

A

Usually first six months of life

108
Q

What is a basic way of differentiating Krabbe disease versus Metachromatic leukodystrophy?

A

Krabbe is developmental delay and typically patient in first 12 month; whereas Metachromatic leukodystrophy is associated in slightly older kids with developmental regression

109
Q

2yo + weakness in morning, that slowly improves (warm up phenomenon) + eye muscles + tongue can be involved + episodic

A

Myotonia Congenita

CK might be slightly raised

110
Q

CLCN1 gene

A

Myotonia Congenita

111
Q

Activation of mTOR =

A

Tuberous Sclerosis

112
Q

______ is a neuronal migration disorder =

A

Lissoncephaly

microcephaly, ventriculomegaly, wide sylvian fissures, complete or partial agenesis of corpus collosum

113
Q

What part of the brain does an operation for hippocampal sclerosis involve and thus what kind of vision defect does this lead to?

A

It affects the temporal lobe (mesial temporal lobe epilepsy)

Can lead to a contralateral homonymous superior quadrantanopia

114
Q

3Hz spike wave

A

Absence seizures

115
Q

First opthalmological findings in Idiopathic intracranial hypertension?

A

Visual field loss

116
Q

Differentiating SMA and Prader Willi?

A

No reflexes in SMA

117
Q

How do you differentiate between Craniopharyngioma and Pituitary adenoma on scan?

A

Craniopharyngioma often show suprasellar mass with contrast enhancement. Looks like a spider wrapping around

118
Q

Deficit associated with left hippocampal sclerosis?

A

Verbal memory

119
Q

Dysferlin abnormality =

A

Limb girdle muscular dystrophy

120
Q

Double homeobox protein 4 gene DUX4 =

A

Fascioscapulohumeral muscular dystrophy

121
Q

PMP22 =

A

Hereditary sensory motor neuropathy (Charcot Marie Tooth disease)

122
Q

Neuromyelitis optica anomaly is associated with anomaly in which channel?

A

Aquaporin 4 antibodies

123
Q

West syndrome is which triad?

A

Developmental regression + infantile spasm + hypsarthymia

124
Q

Define childhood absence seizures?

A

Childhood absence - 6-8yo, misses things and brief absences over course of day (<10sec, LOTS over the day), some automatism, do not lose tone - 3Hz spike and wave

125
Q

Drug of choice for Absence seizure?

A

Ethosuximide

2nd line = Valproate

126
Q

Difference between Juvenile absence epilepsy and childhood absence?

A

Juvenile - much less frequent (<10), 3Hz spike pattern, Epileptiform activity with light stimulation, tonic -clonic seizure much likely

Childhood absence - 6-8yo, misses things and brief absences over course of day (<10sec, LOTS over the day), some automatism, do not lose tone - 3Hz spike and wave

127
Q

First line of drug for Juvenile Absence seizure?

A

Boys - Sodium Valproate (good for tonic clonic and absence)

Girls - Keppra, lamotrigine

128
Q

Difference between Juvenile myoclonic epilepsy and juvenile absence seizure?

A

JME - myoclonus early morning (twitching of hands) + everything else in JAE

129
Q

Sleeping - Sit up, look to the left, motor movement (e.g. scrunch their hands, thrash their hands) and then go back to sleep

A

Nocturnal frontal lobe epilepsy

130
Q

Frontal lobe epilepsy/Centro-temporal lobe epilepsy treatment?

A

Focal seizures - treat with Carbamazepine

If HLA subtype positive -> Clobazam, Kepra

131
Q

Atypical absence (slow spike wave with longer absence), nocturnal tonic seizures, head drops (tonic seizure).

Often drug resistance

A

Lennox-Gastaut

132
Q

Why is sodium valproate contraindicated in young children?

A

Risk of fatal hepatotoxicity

133
Q

Epidural haemorrhage often occurs due to injury to ______

A

They usually develop from injury to the middle meningeal artery

134
Q

___________ and _________ are the two typical presenting features for neuromyelitis optica

A

optic neuritis and transverse myelitis as the typical clinical features of neuromyelitis optica

(thus they present with acute loss of vision, lower limb weakness and urinary incontinence and can have RAPD)

135
Q

Which AED can make juvenile myoclonic epilepsy worse?

A

Carbamazepine

Bad for abscence seizures generall

136
Q

___________ is an autosomal recessive leukoencephalopathy seen in infancy/early childhood, presenting with developmental delay from 3-6 months of age then neurodevelopmental regression, acquired macrocephaly, spasticity, seizures and optic atrophy.

A

Canvan disease

137
Q

The ketogenic diet is first line therapy in________ and ________

A

Doose syndrome and GLUT1 deficiency

138
Q

Toe walking which worsens over the course of the day

A

Segawa disease

Treat with Dopa

139
Q

What is the most common anomaly that leads to spastic diplegia cerebral palsy?

A

Most common cause is periventricular leukomalacia, especially in the area where fibres innervating the legs course through the inner capsule

140
Q

Which type of cerebral palsy do metabolic disorders predispose you to?

A

Athetoid cerebral palsy

141
Q

Which type of cerebral palsy has highest risk of DDH?

A

Spastic Quadriplegia

142
Q

CMT gas be associated with axonal loss or demyelination :

  • which is more common?
  • what is the associated nerve conduction study finding?
A

DEmyelination is more common!

Demyelination - slow conduction velocity

Axonal loss: Decreased CMAP amplitude

143
Q

How does Menke disease present?

A

X linked Recessive disorder due to underlying defecf in copper transport

  • progressive neurodegeration
  • seizures, hypotonia, feeding difficulty, optix atrophy
  • colourless, fragile, breaking hair
  • chubby cheeks
  • death < 3yo

BPT exams (24 decks)

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