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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
SMA treatment
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
Charcot Marie Tooth Disease subgroups
CMT = inherited 1, 3, 4- demyelinating 2- axonal
27
CMT1a - Genetics - Clinical features
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
Nerve conduction studies and EMG
``` Latency = speed of conduction = reduced in demyelinating disorders Amplitude = how well the signal is preserved = axonal neuropathies ```
29
Communicating hydrpcephalus - What causes it - Examples
Impaired CSF absorption- damage to the arachnoid vili | Achondroplasia, meningitis, post-haemorrhagic
30
Non-communication/obstructive hydrocephalus - What causes it - Examples
Due to obstruction of the ventricular system | Aqueductal stenosis, infectious, chiari malformation, dandy-walker malformationm mass lesions
31
Aqueductal stenosis - Causes - Associations
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
Chiari malformation - Definition - Types
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
Dandy-Walker malformation
Cystic expansion of the 4th ventricle with absent cerebellar vermis
34
BCECTS age of onset + remission
3-13 years, remission 16 years
35
BCECTS treatment
Carbemazepine (keppra, valproate)
36
BCECTS Clinical features
``` Seizures on falling asleep or on awakening Focal seziures (+/- dyscognitive) --> can prgress to secondary generalised ```
37
Epilepsy syndromes with good prognosis
``` Benign infantile seizures Benign familial neonatal convulsions Benign familial infantile convulsions BCECTS Idiopathic occipital epilepsy Benign myoclonic epilepsy of infancy Childhoos absence epilepsy ```
38
Benign familial neonatal convulsions
Mutation in potassium voltage gated channel- KCNQ2, KCNQ3 | GOod prognosis once treated with phenobarb
39
Benign familial infantile convulsions
Mutation in sodium channel | Good prognosis once treated with carbemazepine, phenobarb
40
Mesial temporal lobe epilspey with hippocampal sclerosis
Onset at school age or earlier | Rx with temporal resection
41
Rassmussen syndrome
Epilepsy syndrome- bad | Rx plasmapheresis, IVIg, functional hemispherectomy
42
Childhood absence epilepsy - Age - Rx - EEG
Onset 5-6 years, remission 10-12 years Ethosuxamide, lamotrigine, valproate EEG- 3 Hz spike-and-slow-wave discharges
43
Juvenille myoclonic epilepsy | AKA
``` 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
Epileptic encephalopathies (7)
``` 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
Early myoclonic infantile encephalopathy
Newborn-infant onset Burst supression pattern on EEG Usually caused by inborn error of metabolism eg. non-ketotic hyperglycinaemia
46
Ohtahara syndrome
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
West syndrome
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
Dravet sydrome
Infant onset | Valproate, benzos, keotgenic diet
49
Do not use in Dravet syndrome
Barbituates Lamotrigine Carbemazepine Phenytoin
50
Lennox-Gastaut syndrome
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
Laundau-Kleffner syndrome
Onset 3-6 years Loss of language skills in a previously normal child 30% no associated clinical seizures
52
Side effects benzos
Drowsiness, paradoxical hyperactivity, increased secretions, apnoea
53
Side effects carbamazepine
``` Transient leukopenia/ agranulocytosis Hyponatremia Weight gain SJS- HLA-B*1502 in Asian children Liver toxicity ```
54
Lamotrigine side effects
SJS, CNS issues
55
Keppra side effecst
Behavioural symptoms, depression in older
56
Valproate side effects
Weight gain, hyperammonaemia, tremor, alopecia, menstrual irregularities Liver toxicity is <2 years esp if IEM, esp if polypharmacy Highest risk teratogenicity in pregnancy
57
Vigabatrin side effects
Irreversible visual field defects
58
Risk factors for SUDEP (6)
``` Polypharmacy Poorly controlled GTC Male <16 years Long duration epilepsy Frequent seizures ```
59
Coronal craniosynostosis
Bilateral = brachycephaly MC in females Risk neurological sequelae
60
Metopic craniosynostosis
Trigonocephaly Forebrain abnormalities Can be associated with cleft palate, coloboma, urinary abnormalities
61
Sagittal craniosynostosis
Scaphocephaly MC in males Usually normal brain volume
62
Incontinenta pigmenti
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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