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Exam > Neurology > Flashcards

Neurology Flashcards

1
Q

Cavernous sinus syndrome

A

Unilateral CN 3, 4, 5, 6 lesion = opthalmoplegia, proptosis, occular and conjunctival congestion, trigeminal sensory loss, Horners syndrome

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2
Q

Cerebellopontine angle syndrome

A

Unilateral 5, 7, 8
Usually caused by vestibular schwannoma
Unilateral hearing loss, nystagmus/vertigo, Bell’s palsy

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3
Q

Jugular foramen syndrome

A

Unilateral 9, 10, 11
Dysphonia/hoarsness, soft palate drooping, deviation of uvula, loss of sensory function posterior 1/3 of the tongue, loss of gag reflex, SCM and traps paralysis

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4
Q

Bulbar palsy

A

Lower motor neurone lesion 10, 11, 12

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5
Q

Pseudobulbar palsy

A

Upper motor neurone lesion 10, 11, 12

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6
Q

Horner syndrome

A

Miosis (constriction), ptosis, enopthalmos, decreased facial sweating
Increased amplitute od accommodation, transient decreased in intraocular pressure, hereochromia iridis <2 years

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7
Q

Congenital ptosis

A

AD transmission

Localised dystrophy of the levator muscle

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8
Q

Marcus Gunn jaw-winking ptosis

A

AD transmission
Abnormal synkinesis between 3rd and 5th CN- eyelid elevates with movement of the jaw
Predisposed to cardiac arrhythmias

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9
Q

Agenesis of the cerebellar vermis

A

Infant presenting with generalised hypotonia, decreased deep tendon reflexes, delayed motor milestones, truncal ataxia

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10
Q

Joubert syndrome

A

AR transmission
Developmental delay, hypotonis, abnormal eye movements and respiration, ataxia
Due to malformation of the cerebellum and brainstem
Molar tooth sign on MRI

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11
Q

Acute cerebellar ataxia

  • What is it
  • MC age
  • MC triggers
  • Clinical features
A

MC age 1-3
Autoimmune response 2-3 weeks post viral infection (varicella, coxsackie, echovirus)
Initial vomiting, then sudden onset truncal ataxia
Lasts for weeks to months

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12
Q

Acute cerebellitis

- MC triggers

A

More severe form of acute cerebellar ataxia
Post EBV, mycoplasma, mumps, influenza
More severe symptoms, poorer prognosis
Abnormal MRI

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13
Q

Bassen-Kornzweig disease

  • What is it
  • Clinical features
  • Ix
  • Rx
A

AKA abetalipoproteinaemia
Steatorrhoea and FTT in childhood
Acanthocytosis on FBC
Decreased levels of cholesterol and triglycerides
Ataxia, retinitis pigmentosa, peripheral neuritis
Vitamin E levels undetectable
Treatment is vitamin E

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14
Q

Hartnup disease

  • What is it
  • Clinical features
  • Rx
A

Due to tryptophan malabsoprtion
Pellagra rash and intermittent ataxia
Treated with niacin

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15
Q

Ataxia-telangiectasia

  • Genetics
  • Clinical features
A

AR inheritence, ATM gene mutation (involved in DNA repair and cell cycle control)
MC degenerative ataxia
Ataxia from age 2, loss of ambulation by adolescence
Oculomotor apraxia of horizontal gaze (overshoots, difficulty shifting gaze)
Strabismus, nystagmus
Telangiectasia by mid childhood (bulbar conjunctiva, bridge of nose, ear, exposed surfaces of extremities)
Loss of elasticity of skin
Decreased immunity in 50% (MC IgA, IgG2, IgG4, IgE)
50-100x increased risk of lymphoreticular tumours and brain tumours
Elevated aFP

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16
Q

Fredreich ataxia

  • Genetics
  • Clinical features
A

AR, GAA repeat expansion in the mitochondrial protein frataxin
Onset ataxia <10 years, LL > UL
Explosive dysarthric speech
Nystagmus
Loss of vibration and proprioception
Weakness of distal muscles, pes cavus, hammertoes
Hypertrophic cardiomyopathy- cause of death

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17
Q

Myasthenia gravis

  • What is is
  • Clinical features
  • Infants born to mothers with MG
  • Clinical course
  • Ix
  • Association
  • Rx
A

Chronic autoimmune disease of neuromuscular blockade
Normal release of ACh, but motor end plate less responsive than normal- circulating Abs bind to ACh receptor
Rapid fatiguability of striated muscles esp extraocular, palpebral, swallowing- usually asymmetric ptosis and some weakness EOM earliest signs (feeding difficulties + poor head control in infants)
Infants can have transient due to Abs that cross placenta
Usually progressive (not in 25%, usually of Asian descent)
Anti-AChR antibodies 30-50% (more likely in adolescents)
EMG- decremental response
Thyroid tumours
Cholinestase-inhibiting drugs eg. neostigmine

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18
Q

Nerves spared in SMA

A

Motor neurons of CN 3, 4 and 6 (EOM)
Sacral spinal cord innervating urethral and anal spincters
Upper motor neurons

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19
Q

SMA 1

  • AKA
  • Clinical course
  • % of cases
  • Clinical features
  • Prognosis
A 
Werdnig-Hoffmann disease
Severe infantile form
25%
Severe hypotonia and weakness, no anti-gravity movements, absent tendon reflexes
Involves the tongue and face
Can have resp distress and feeding difficulties from birth
Congenital contractures 10%
65% die by age 2
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20
Q

SMA 2

  • Clinical course
  • % of cases
  • Clinical features
  • Prognosis
A

Late infantile, slowly progression
50%
Normal resp and feeding at birth, but then progressive weakness
Survive to school age and beyond

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21
Q

SMA 3

  • AKA
  • Clinical course
  • % of cases
  • Clinical features
A 
Kugelberg-Welander disease
Chronic/juvenille form
25%
Normal in infancy, progressive symmetrical proximal weakness esp shoulder girdle. Bulbar dysfunction rarely present.
Survive to middle age
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22
Q

SMA 0

A

Severe fetal form

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23
Q

Genetics/pathophysiology of SMA

A

AR inheritence
Usually there is a surplus of motor neuroblasts in embryonic life that are apoptosed
SMN (survivor motor neuron) protein arrests the apoptosis of neuroblasts
Genes- SMN1 and SMN2
Usually SMN1 encode most of SMN, and SMN2 only encodes 10-20% SMN (rest is spliced to become a truncated protein which is degraded)
Can have multiple copies of SMN2- the more copies, the milder the phenotype
Affects motor neurons in anterior horn cells of spinal cord –> atrophy of deinnervated muscles

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24
Q

Ix in SMA

A

Mildly elevated CK
CXR: thin ribs
Normal NCS - distinguishes from peripheral neuropathy
EMG shows fibrillations

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25
Q

SMA treatment

A

Nusinersen (aka spinraza)
Modulates alternate splicing of the SMN2 gene, functionally converting it into SMN1 gene, thus increasing the level of SMN protein in the CNS

26
Q

Charcot Marie Tooth Disease subgroups

A

CMT = inherited
1, 3, 4- demyelinating
2- axonal

27
Q

CMT1a

  • Genetics
  • Clinical features
A

MC HSMN
Usually AD, PMP22 gene (CMT1a), 83% expressivity
Initially distal sensory changes (proprioception, vibration, deep tendon reflexes), then motor weakness
Pes cavus, hammer toes, intrinsic hand wasting
Usually no hearing loss (unlike other CMT1 subgroups)

28
Q

Nerve conduction studies and EMG

A 
Latency = speed of conduction = reduced in demyelinating disorders
Amplitude = how well the signal is preserved = axonal neuropathies
29
Q

Communicating hydrpcephalus

  • What causes it
  • Examples
A

Impaired CSF absorption- damage to the arachnoid vili

Achondroplasia, meningitis, post-haemorrhagic

30
Q

Non-communication/obstructive hydrocephalus

  • What causes it
  • Examples
A

Due to obstruction of the ventricular system

Aqueductal stenosis, infectious, chiari malformation, dandy-walker malformationm mass lesions

31
Q

Aqueductal stenosis

  • Causes
  • Associations
A

Can be inherited- X-linked, can be due to TORCH infections (mumps), can be due to NF1
Associated with minor neural tube defects eg. spina bifida occulta

32
Q

Chiari malformation

  • Definition
  • Types
A

Structural defect in cerebellum causing displacement of cerebellar tonsils through the foramen magnum
Type 1- symptoms during adolescence and adult life, not usually associated with hydrocephalus. Recurrent headache, neck pain, urinary frequency, progressive LL spacticity
Type 2- progressive hydrocephalus with a myelomeningocele

33
Q

Dandy-Walker malformation

A

Cystic expansion of the 4th ventricle with absent cerebellar vermis

34
Q

BCECTS age of onset + remission

A

3-13 years, remission 16 years

35
Q

BCECTS treatment

A

Carbemazepine (keppra, valproate)

36
Q

BCECTS Clinical features

A 
Seizures on falling asleep or on awakening
Focal seziures  (+/- dyscognitive) --> can prgress to secondary generalised
37
Q

Epilepsy syndromes with good prognosis

A 
Benign infantile seizures
Benign familial neonatal convulsions
Benign familial infantile convulsions
BCECTS
Idiopathic occipital epilepsy
Benign myoclonic epilepsy of infancy
Childhoos absence epilepsy
38
Q

Benign familial neonatal convulsions

A

Mutation in potassium voltage gated channel- KCNQ2, KCNQ3

GOod prognosis once treated with phenobarb

39
Q

Benign familial infantile convulsions

A

Mutation in sodium channel

Good prognosis once treated with carbemazepine, phenobarb

40
Q

Mesial temporal lobe epilspey with hippocampal sclerosis

A

Onset at school age or earlier

Rx with temporal resection

41
Q

Rassmussen syndrome

A

Epilepsy syndrome- bad

Rx plasmapheresis, IVIg, functional hemispherectomy

42
Q

Childhood absence epilepsy

  • Age
  • Rx
  • EEG
A

Onset 5-6 years, remission 10-12 years
Ethosuxamide, lamotrigine, valproate
EEG- 3 Hz spike-and-slow-wave discharges

43
Q

Juvenille myoclonic epilepsy

AKA

A 
AKA Janz syndrome
5% of all epilepsies
12-18yr onset, no remission
EEG- 4-5 Hz spike and slow waves
Myoclonic jerks in the morning
GTC upon waking
Absences
44
Q

Epileptic encephalopathies (7)

A 
Early myoclonic infantile encephaopathy
Ohtahara syndrome
West syndrome
Dravet syndrome
Lennox-Gastaut syndrome
Laundau-Kleffner syndrome
Epilepsy with continuous spike waves during slow wave sleep
45
Q

Early myoclonic infantile encephalopathy

A

Newborn-infant onset
Burst supression pattern on EEG
Usually caused by inborn error of metabolism eg. non-ketotic hyperglycinaemia

46
Q

Ohtahara syndrome

A

AKA Early infantile epileptic encephalopathy
Onset first 2 months of life
Tonic seziures
Caused by syntaxin binding protein 1 mutations
Progresses to West syndrome

47
Q

West syndrome

A

Onset 2-12 months
Triad- infantile spasms (around sleep), developmental regression, EEG hypsarrhythmia
Treatment- ACTH or high dose prednisolone
Can be due to TS- in this case give vigabatrin

48
Q

Dravet sydrome

A

Infant onset

Valproate, benzos, keotgenic diet

49
Q

Do not use in Dravet syndrome

A

Barbituates
Lamotrigine
Carbemazepine
Phenytoin

50
Q

Lennox-Gastaut syndrome

A

3-10 year onset
Atypical absences (1-2Hz spike and slow wave)
Head atonia and myoclonus during seziures
Triad- developmental delay, multiple seizure types, typical EEG finding
Can progress from Ohtahara/West

51
Q

Laundau-Kleffner syndrome

A

Onset 3-6 years
Loss of language skills in a previously normal child
30% no associated clinical seizures

52
Q

Side effects benzos

A

Drowsiness, paradoxical hyperactivity, increased secretions, apnoea

53
Q

Side effects carbamazepine

A 
Transient leukopenia/ agranulocytosis
Hyponatremia
Weight gain
SJS- HLA-B*1502 in Asian children
Liver toxicity
54
Q

Lamotrigine side effects

A

SJS, CNS issues

55
Q

Keppra side effecst

A

Behavioural symptoms, depression in older

56
Q

Valproate side effects

A

Weight gain, hyperammonaemia, tremor, alopecia, menstrual irregularities
Liver toxicity is <2 years esp if IEM, esp if polypharmacy
Highest risk teratogenicity in pregnancy

57
Q

Vigabatrin side effects

A

Irreversible visual field defects

58
Q

Risk factors for SUDEP (6)

A 
Polypharmacy
Poorly controlled GTC
Male
<16 years
Long duration epilepsy
Frequent seizures
59
Q

Coronal craniosynostosis

A

Bilateral = brachycephaly
MC in females
Risk neurological sequelae

60
Q

Metopic craniosynostosis

A

Trigonocephaly
Forebrain abnormalities
Can be associated with cleft palate, coloboma, urinary abnormalities

61
Q

Sagittal craniosynostosis

A

Scaphocephaly
MC in males
Usually normal brain volume

62
Q

Incontinenta pigmenti

A

Rare, heritable disorder
Caused by functional mosaicism (random X inactivation) of an X dominant gene that is lethal in males
XL dominant
4 phases- not all may occur
1st phase- Within a few weeks of birth, linear erythematous plaques of vesicles and limbs and circumferential on trunk- resolved by 4 months
2nd phase- verucous plaques form as vesicle dry up, involute within 6 months
3rd stage= hyperpigmentation of Blaschko lines
4th stage- hairless hypopigmented patches

Also assoc with dental anomalies, CNS anomalies, occular anomalies

Exam (16 decks)

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