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Written exam > Neurology > Flashcards

Neurology Flashcards

1
Q

Diastematomyelia

A

Spinal malformation where the spinal cord is split by bony/fibrous structure, resulting in symptoms of a tethered cord (limb weakness, back pain, scoliosis).
Often associated with vertebral anomalies

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2
Q

Dandy-Walker malformation

A

Brain malformation with hypoplasia of the cerebellum (esp vermis), with often marked enlargement of the posterior fossa. Present usually in the first year of life with hydrocephalus, “sun downing”, irritability and sleepiness

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3
Q

Meningocele

A

Meninges herniate through a defect in the posterior vertebral arches, usually normal spinal cord (but may be associated with syntax or riastematomyelia)

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4
Q

Myelomeningocele

A

Both the meninges and the spinal cord herniate through the spine, often resulting in weakness of the lower extremes and bladder/bowel dysfunction

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5
Q

Causes of Horner syndrome

A

Primary neuron lesion
Brainstem stroke/tumour
Trauma to the brachial plexus
Tumour/infection of lung apex
Postganglionic neuron lesion
Dissecting carotid aneurysm
Carotid artery ischeamia
Migraine
Middle cranial fossa neoplasm

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6
Q

Basis of triplet repeat studies?

A

Some genes have inherently unstable triplet repeat regions, with the number of repeats varying in mitosis and meiosis, if the number of repeats reaches a critical level it becomes methylated and therefore inactivated, resulting in phenotypic abnormalitis

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7
Q

Examples of triplet repeat expansion disorders?

A

Fragile X syndrome
Myotonic dystrophy
Huntington disease
Spinocerebellar ataxias
(caused by expansion in the number of 3-bp repeats)

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8
Q

High risk of latex allergy associated with which condition?

A

Spina bifida - allergy to latex products due to repeated exposures (e.g. frequent surgery e.g. abdo/genitourinary, IDCs, VP shunts)
Patients are sensitised through direct mucosal exposure to products from multiple surgeries early in life

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9
Q

Extensor plantar responses with absent lower limb deep tendon reflexes?

A

Friedrich’s ataxia
- also can have cerebellar signs

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10
Q

Methotrexate-related leukoencephalopathy

A

Presents as non-specific neurological dysfunction - seizures, encephalopathy, word finding difficulties, ataxia, weakness, blurred vision
Risk factors include high cumulative dose, IT methotrexate and prolonged methotrexate clearing times

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11
Q

MRI brain findings with methotrexate-related leukoencephalopathy

A

White matter changes (particularly in the centrum semiovale) which are usually reversible

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12
Q

Causes of posterior reversible encephalopathy syndrome (PRES)?

A

Medications - cyclosporin, tacrolimus, interferon, erythropoietin
Hypertension

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13
Q

Features of Panayiotopoulos syndrome

A

Usually nocturnal and prolonged seizures (more than 5 minutes, 50% last more than 30 minutes), with ictal vomiting the most characteristic sign.
Variant of benign childhood epilepsy with occipital spikes

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14
Q

Charcot-Marie-Tooth: effects on tone and reflexes?

A

Tone normal, reflexes absent

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15
Q

Unilateral equinovarus and diurnal variation in gait are classical presenting features of which disease?

A

Segawa disease (dopa-responsive dystonia)
Classically present with unilateral equinovarus, and diurnal variation (typically toe walking which worsens throughout the day)

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16
Q

Gait abnormalities in autism?

A

Toe walking, with normal neurological examination

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17
Q

Prolonged febrile seizures should raise concern for?

A

Dravet syndrome/SCN1A channelopathy

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18
Q

What are the typical seizures associated with Dravet syndrome?

A

Hemiclonic seizures and vaccine proximal seizures

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19
Q

EEG changes in Dravet syndrome in children >12 months?

A

Normal EEG in first 12 months usually

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20
Q

Antiepileptics most useful in Dravet?

A

Sodium valproate, topiramate, stiripentol
- caution with phenytoin (may exacerbate seizures)

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21
Q

Frequency of positive genetic testing in Dravet syndrome?

A

80%

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22
Q

EEG: large amplitude spikes or sharp waves maximal over centrotemporal region

A

Benign epilepsy with centrotemporal spikes (benign rolandic epilepsy)

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23
Q

EEG: frequent triphasic wave pattern

A

Hepatic encephalopathy

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24
Q

EEG: low voltage pattern evolving to seizure activity

A

Stage 2 HIE

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25
Q

EEG: multifocal spikes and sharp wave pattern

A

Infantile spasms (hypsarrhythmia)

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26
Q

EEG: burst suppression or isoelectric pattern

A

Stage 3 HIE

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27
Q

vCJD (variant Creutzfeldt-Jakob disease) is the human form of what infective disease?

A

Bovine Spongiform Encephalopathy (BSE)

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28
Q

From which brain vesicle do the two cerebral hemispheres arise?

A

Telencephalon - a secondary brain vesicle from the prosencephalon. It has bilateral segments which become the cerebral hemispheres

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29
Q

From which brain vesicle does the hypothalamus arise?

A

Diencephalon - a secondary brain vesicle from the prosencephalon. It becomes the thalamus and hypothalamus (note: evolving evidence suggesting possibly arising from the telencephalon)

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30
Q

From which brain vesicle does the cerebellum arise?

A

Metencephalon - secondary brain vesicle which arises from the rhombencephalon. It gives rise to the cerebellum and the pons

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31
Q

Medication to consider in Sturge-Weber syndrome?

A

Aspirin - may be beneficial in reducing the number of stroke like episodes and improving neurological outcomes

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32
Q

Alternate name for subaponeurotic haemorrhage?

A

Subgaleal haemorrhage

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33
Q

Presenting features of subgaleal haemorrhage?

A

Shock (seen with tachycardia, hypotension, slow cap refill), within 30 minutes of haemorrhage a Hb drop is seen
Boggy swelling - blood crosses suture lines compared with cephalohaematoma

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34
Q

Cause of subgaleal haemorrhage?

A

Trauma to blood vessels between the skull and the scalp, almost always in the context of instrumental delivery (particularly vacuum)

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35
Q

Typical progression to diagnosis of Rett’s syndrome?

A

Initially normal development, then regression with loss of speech and purposeful hand use, stereotypic hand movements and gait abnormalities.
Head growth deceleration
Later development of seizures, autistic features, ataxia, intermittent breathing abnormalities
Usually only affects girls

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36
Q

Main criteria for Rett’s syndrome diagnosis?

A

Partial/complete loss of purposeful hand movements
Partial/complete loss of acquired spoken language
Gait abnormalities: impaired (dyspraxia) or inability to walk
Stereotypic hand movements (wringing/squeezing, clapping/tapping, mouthing, washing/rubbing)

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37
Q

Diagnosis to exclude in child presenting with progressive ataxia and abnormal eye movements?

A

Neuroblastoma
- ataxia secondary to myoclonus, and abnormal eye movements (opsoclonus)
- opsoclonus develops after myoclonus
- only 5% of neuroblastoma patients have OM, but 50% of patients with OM have neuroblastoma

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38
Q

New classification of “complex partial seizure”

A

Focal seizure without retained awareness

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39
Q

Definition of vein of Galen malformation?

A

Intracranial arteriovenous shunts located in the midline
Consist of feeding arteries (choroidal artery and anterior cerebral artery) that drain into a large venous pouch (precursor to VoG)

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40
Q

Presenting features of Vein of Galen malformation?

A

Shortness of breath, feeding issues, failure to thrive, sweating, weight loss - due to elevated preload on the right heart
Some infants also have a large HC and prominent scalp veins

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41
Q

Management of VoG malformation?

A

Manage heart failure medically until 5-6 months of age, then embolisation procedure (less risk at this age)

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42
Q

Indication for embolisation of Vein of Galen malformation earlier than 5-6 months of age?

A

Severe heart failure
Neurological deficits
Seizures

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43
Q

When is the most common period for a brain insult to occur in children who develop cerebral palsy?

A

Antenatally in 80% of cases
Intrapartum insult in <10% of patients

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44
Q

Association with mutation in proline-rich transmembrane protein 2 (PRRT2)?

A

Self-limiting and familial infantile seizures

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45
Q

Association with GABRA1 gene?

A

Juvenile myoclonic epilepsy

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46
Q

Association with SCN1A mutation?

A

Dravet syndrome - up to 80% of patients with severe myoclonic epilepsy of infancy have de novo mutations in SCN1A

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47
Q

MRI findings of glioma?

A

Typically poorly-marginated, diffusely infiltrating necrotic masses, usually supratentorial

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48
Q

MRI findings of craniopharyngioma?

A

Hyperintense cysts with a solid component, typically suprasellar (above the sella turcica, under the hypothalamus and between the temporal lobes) i.e. near pituitary gland/optic nerves

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49
Q

Epilepsy type: partial motor seizures, often starting in the face, mostly happen during sleep, may be associated with drooling/trouble swallowing and difficulty speaking

A

Benign partial epilepsy of childhood
- myoclonic twitches, can have generalised seizures (in younger kids)
- EEG shows centrotemporal spikes
- may have facial numbness or weakness
- may have unilateral sensory symptoms in limbs

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50
Q

First pharyngeal arch?

A

Mandibular arch, associated with trigeminal nerve (CN V)

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51
Q

Second pharyngeal arch?

A

Hyoid arch, associated with facial nerve (CN VII)

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52
Q

Third pharyngeal arch?

A

Associated with glossopharyngeal nerve (CN IX)

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53
Q

Fourth pharyngeal arch?

A

Associated with the superior laryngeal branch of the vagus nerve (CN X)

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54
Q

Fifth pharyngeal arch?

A

Insignificant

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55
Q

Sixth pharyngeal arch?

A

Associated with the vagus nerve via the recurrent laryngeal branch

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56
Q

EEG: slow spike and wave

A

Lennox-Gastaut syndrome
May also be seen in atypical absence epilepsy (not typical)

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57
Q

EEG: generalised spike and slow wave, often with repetitive trains of discharges, and especially during hyperventilation

A

Absence seizures

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58
Q

EEG: hypsarrhythmia

A

Infantile spasms, usually have no clear normal background activity (helps to exclude if normal background)

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59
Q

EEG: bilateral centrotemporal spikes and sharp waves

A

Landau-Kleffner syndrome (usually spreads to generalised spike wave pattern, present in >80% of sleep)
Also seen in childhood epilepsy with centrotemporal spikes/BRE, epileptic encephalopathy with continuous spikes and waves during sleep (CSWS), also seen in normal children

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60
Q

Typical first features of Landau-Kleffner syndrome?

A

Language regression/aphasia

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61
Q

Why are depolarising muscle relaxants (succinylcholine) and volatile anaesthetic agents (halothane, sevoflurane, isoflurane) contraindicated in Becker muscular dystrophy?

A

Risk of rhabdomyolysis and ‘malignant hyperthermia-like’ events
- contraindicated in all myopathies and muscular dystrophies

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62
Q

EEG: diffuse beta frequency activity

A

Patients with anxiety, with benzodiazepine use, and as a coma pattern

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63
Q

EEG: periodic lateralised epileptiform discharges (PLEDs)

A

Refer to spikes or sharp waves occurring at a regular frequency in a regionalised location, these occur as a coma pattern and are associated with a high risk of seizures if found in patients with continuous EEG monitoring in ICU

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64
Q

Which anticonvulsant decreases the half life of lamotrigine in a clinically significant manner?

A

Carbamazepine
- lamotrigine may increase the concentration of carbamazepine (increasing adverse CNS effects of carbamazepine), and carbamazepine may decrease the concentration of lamotrigine and decrease it’s efficacy

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65
Q

Which anticonvulsant is most likely to cause a clinically important drug reaction with lamotrigine?

A

Sodium valproate - increases lamotrigine levels dramatically

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66
Q

Which flexure lies between the rhombencephalon and the spinal cord?

A

Cervical flexure
Limited space for the neural tube to develop lengthways, so it folds on itself at both the cervical and cephalic flexures

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67
Q

Which flexure separates the two regions of the rhombencephalon?

A

Pontine flexure

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68
Q

What is the genetic abnormality found on the dystrophin gene in Duchenne muscular dystrophy?

A

Deletion of several exons (the dystrophin gene is the largest in the human genome)
72% of dystrophin mutations are large insertions or deletions, 20% are point mutations

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69
Q

Leigh disease description

A

Neuropathologic description characterised by demyelination, gliosis, necrosis, relative neuronal sparing and capillary proliferation in specific brain regions (most severe in basal ganglia, then brainstem, cerebellum and cerebral cortex)

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70
Q

MRI findings in Leigh disease

A

Bilaterally symmetric areas of low attenuation in the basal ganglia and brainstem, with elevated lactic acid on MR spectroscopy

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71
Q

Early signs of Leigh disease

A

Poor suck, loss of head control and motor skills
(usually presents before the age of 2)

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72
Q

Progression of Leigh disease

A

Poor appetite, vomiting, irritability, seizures
Generalised weakness, hypotonia, episodes of lactic acidosis which lead to impaired respiratory and renal function

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73
Q

Metachromatic leukodystrophy (MLD) description

A

AR white matter disease
Deficiency of ASA (required for hydrolysis of sulphated glycosphingolipids)

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74
Q

Clinical manifestations of metachromatic leukodystrophy (MLD)

A

Late infantile (12-18 months) is most common, with irritability, inability to walk and hyperextension of the knee (causing gene recurvatum)
Progresses to give upper and lower morrow neuron signs, and cognitive and psychiatric signs
Deep tendon reflexes reduced/absent

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75
Q

Features of progression of metachromatic leukodystrophy (MLD)?

A

Gradual muscle wasting, weakness and hypotonia lead to debilitation
Nystagmus, myoclonic seizures, optic atrophy and quadriparxsis appear, with mortality within the first decade of life

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76
Q

Neuronal ceroid lipofuscinoses (NCLs) description

A

Also known as Batten disease
Group of neurodegenerative disorders, the most common of the neurogenetic storage diseases

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77
Q

Clinical features of neuronal ceroid lipofuscinoses (NCLs)

A

Begin around 6-24 months, progresses rapidly
Failure to thrive, microcephaly, short stature, myoclonic jerks
Usually die before 5 years of age

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78
Q

In a child with neuromuscular weakness, which is the best lung function test to assess respiratory muscle weakness?

A

Forced vital capacity (FVC)

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79
Q

The cavernous sinus contains which nerves?

A

Oculomotor nerve (CN III), the trochlear nerve (CN IV), the ophthalmic and maxillary nerves (part 1 and part 2 of the trigeminal nerve CN V), and the abducens nerve (CN VI)
Not the facial nerve - exits brainstem between pons and medulla

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80
Q

Holoprosencephaly overview

A

When the prosencephalon (forebrain) fails to develop properly, resulting in a single brain lobe rather than two.
Tends to cause facial abnormalities (midline), ID, seizures, pituitary abnormalities

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81
Q

Type of CP caused by MCA infarct?

A

Spastic hemiplegia

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82
Q

Lissencephaly overview

A

= ‘smooth brain’
Caused by defect in neuronal migration during week 12-14
Severe developmental impairments, can cause CP

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83
Q

Periventricular leukomalacia overview

A

Causes spastic diplegia
Usually secondary to IVH and is the commonest type of CP

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84
Q

Spinal dysraphism overview

A

Failure of development of spine and spinal cord
Can cause lower limb weakness with hypertonia and hyperreflexia

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85
Q

First line treatment for absence seizures?

A

Sodium valproate

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86
Q

Features of optic neuritis

A

Inflammatory and demyelinating condition
Acute (usually monocular), visual loss, pain
RAPD (if other eye is normal)
Often visual field defect (central scotoma)
Papillitis with hyperaemia and swelling of the disc, blurring of disc margins and distended veins is seen in 1/3

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87
Q

MRI findings in MS

A

Typical lesions are ovoid, periventricular, and larger than 3mm
Seen in deep white matter/corpus callosum/periventricular regions

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88
Q

Prevalence of optic neuritis in MS?

A

Presenting feature in 15-20%, and occurs in 50% at some time throughout their illness
Much more frequently unilateral in location

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89
Q

Progress of MS

A

Typically has recurrent/relapsing pattern

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90
Q

Acute disseminated encephalomyelitis (ADEM) overview

A

Non-vasculitis inflammatory demyelinating condition, similar features to MS
Prominence of cortical signs (mental status changes, seizures)
Brain lesions involve grey-white junction
Optic neuritis is usually bilateral (but one eye can have symptoms days to months earlier)

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91
Q

Subacute sclerosing panencephalitis (SSPE) overview

A

Persistent infection with measles virus within CNS
Develops 5-10 years after measles infection

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92
Q

Clinical features of SSPE

A

Gradual and progressive psychoneurological deterioration
- personality change, seizures, myoclonus, ataxia, photosensitivity, ocular abnormalities, spasticity and coma

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93
Q

Systemic lupus erythematosus (SLE) overview

A

Present with progressive deterioration in social/mental status
More dramatic presentations include seizures, chorea, stroke, dementia and coma, may be accompanied by cranial neuropathies and/or evidence of cerebritis
Headache is a frequent complaint
Usually no MRI abnormalities (or if present, are vague)

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94
Q

Features of cerebral toxoplasmosis

A

Headache, confusion and fever, can have focal neurological deficits or seizures

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95
Q

Location of extradural haematoma

A

Between skull and dura - usually develop from injury to the middle meningeal artery or one of the branches, and are usually temporo-parietal in location
Temporal bone fracture is usually the cause
Expanding haematoma strips the dura from the skull, strong attachment hence the well defined margin

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96
Q

Clinical features of extradural haematoma

A

Can present with reduced level of consciousness or following a lucid interval
Often significant mass effect with compression of the ipsilateral lateral ventricle and dilatation of the opposite ventricle due to obstruction of the foramen of Munro

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97
Q

A preference for using the left hand at 12 months is suggestive of what?

A

Cerebral palsy - hand preference usually develops by 3 years of age, concerning if apparent before 18 months
Other early warning signs: delayed motor milestones, persistence of ‘infantile’ reflexes

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98
Q

Patients with NF1 who have a whole gene deletion are at an increased risk of?

A

Malignant peripheral nerve sheath tumours (MPNSTs)
- nearly always arise in pre-existing plexiform neurofibromas

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99
Q

Intellectual impact of NF1?

A

Learning difficulties, ADHD and ASD are more frequent in children with neurofibromatosis but severe ID is rare

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100
Q

Is imaging required to monitor for optic gliomas in patients with NF1?

A

Optic pathway gliomas are often asymptomatic and do not need treatment therefore baseline MRI not indicated
MRI is only indicated if symptomatic

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101
Q

What proportion of patients with NF1 have a de novo mutation?

A

50%

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102
Q

Light touch, pinprick and temperature sensations occur through which tract?

A

Spinothalamic tracts

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103
Q

Proprioception and vibration sensations occur through which tract?

A

Dorsal columns

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104
Q

Possible signs in a cortical lesion

A
  • seizures
  • encephalopathy
  • involvement of higher cognitive functions (language, speech, reading)
  • dysmorphic features
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105
Q

Possible signs in a brainstem lesion

A
  • cranial neuropathies (double vision, facial numbness/weakness, dysphagia, hoarse voice)
  • may have altered mental status
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106
Q

Possible signs in a spinal cord lesion

A
  • presence of a sensory level or weakness
  • involvement of bowel or urinary incontinence
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107
Q

Possible signs in a cerebellar lesion

A

Imbalance and incoordination of movements

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108
Q

Signs of anterior horn cell lesion

A

Presence of fasciculations

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109
Q

Possible signs in a peripheral nerve lesion

A

Motor or sensory loss consistent with a peripheral distribution of a nerve

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110
Q

Possible signs in a NMJ lesion

A
  • can be difficult to distinguish from other peripheral causes
  • may have a fatiguability characteristic, or waxing and waning pattern of motor weakness (esp ptosis or extra ocular muscles)
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111
Q

Possible signs in a muscle lesion

A

Usually more proximal than distal muscle involvement

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112
Q

Presence of fasciculations suggest?

A

Anterior horn cell lesion

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113
Q

CN I

A

Olfactory nerve
- sense of smell

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114
Q

CN II

A

Optic nerve
- visual acuity and visual fields
- afferent limb of pupillomotor action (with CN III, dilate or constricts the pupil)

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115
Q

CN III

A

Oculomotor nerve
- controls most eye movements (except those from CN IV and VI)
- efferent limb of pupillomotor action

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116
Q

CN IV

A

Trochlear nerve
- superior oblique muscle: depresses and introits the eye
- afferent limb of the corneal reflex

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117
Q

CN V

A

Trigeminal nerve
- facial sensation (divided into V1, V2, V3)
- muscles of mastication

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118
Q

CN VI

A

Abducens nerve
- lateral rectus muscle: abducts the eye

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119
Q

CN VII

A

Facial nerve
- muscles of facial expression
- efferent limb of the corneal reflex
- sense of taste in anterior two-thirds of tongue

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120
Q

CN VIII

A

Vestibulocochlear nerve
- sense of hearing
- vestibular organ: coordination of eye movements and equilibrium

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121
Q

CN IX

A

Glossopharyngeal nerve
- sense of taste and sensation in posterior two thirds of the tongue
- afferent limb of the carotid baroreceptor and gag reflexes

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122
Q

CN X

A

Vagus nerve
- muscles of the palate
- efferent limb of the baroreceptor and gag reflexes
- provides parasympathetics to most organs

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123
Q

CN XI

A

Spinal accessory nerve
- sternocleidomastoids and trapezius muscles: turn the head contralaterally and ipsilateral elevation of the shoulder, respectively

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124
Q

CN XII

A

Hypoglossal nerve
- muscles of the tongue

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125
Q

Upper motor neuron signs

A

Increased deep tendon reflexes
Babinski sign present (upping)
Increased tone, may have spasticity
No fasciculations

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126
Q

Lower motor neuron signs

A

Decreased deep tendon reflexes
Babinski sign NOT present
Decreased tone
Muscle fasciculations present

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127
Q

Grading of reflexes on examination

A

4+: hyperreflexic, presence of clonus
3+: hyperreflexic, crossed adductors may be present
2+: normal
1+: hyporeflexic
0: no reflexes

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128
Q

Normal Babinski reflex

A

Babinski is an upward extension of the big toe with stroking of the lateral to medial plantar surface of the foot
- normal in a neonate, but if present beyond 1 year of life may suggest central pathology

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129
Q

Location of UMN lesions?

A

Brain stem, spinal cord, cortex

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130
Q

Location of LMN lesions?

A

Anterior horn, plexus, peripheral nerve, NMJ, muscle

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131
Q

Appearances of tissues in T1 weighted MRIB

A

Water (CSF) = dark
Fat = bright
Brain = grey matter looks grey, white matter looks white

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132
Q

Appearances of tissues in T2 weighted MRIB

A

Water (CSF) = bright
Fat = bright
Brain = grey matter looks white, white matter looks grey

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133
Q

Appearances of tissues in T2 FLAIR MRIB

A

Water (CSF) = dark
Fat = bright
Brain = grey matter looks white, white matter looks grey

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134
Q

Appearances of tissues in DWI MRIB

A

DWI = diffusion weighted imaging
Water (CSF) = dark
Fat = dark
Brain = grey matter looks grey, white matter looks darker grey

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135
Q

Appearances of tissues in ADC MRIB

A

ADC = apparent diffusion coefficient maps
Water (CSF) = bright
Fat = dark
Brain = grey matter looks grey, white matter looks lighter grey

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136
Q

Clinical utility of T1 weighted MRIB

A

Best for visualising general anatomy

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137
Q

Clinical utility of T2 weighted MRIB

A

Best for visualising posterior fossa pathology and demyelinating lesions

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138
Q

Clinical utility of T2 FLAIR MRIB

A

Particularly useful for detecting changes in the periventricular area (as CSF shows up dark) and peripheral areas
Also good for visualising cerebral oedema

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139
Q

Clinical utility of DWI and ADC MRI

A

Low resolution images
The combination of DWI and ADC is useful for detecting acute pathology, particularly for ischaemic stroke (within a 7-10 day window) or in cases of certain tumours or infections (abscesses)

140
Q

Advantages/disadvantages of CTB over MRIB

A

Advantages: quick, sensitive and reliable for acute changes (haemorrhage, large ischaemia, hydrocephalus, herniation), better option to look for fractures
Disadvantages: radiation, not sensitive for most CNS pathology (inflammation, periventricular leukomalacia, or ischaemia)

141
Q

Intensity of multiple sequences on MRIB?

A

Hyperintense - refers to lighter areas
Hypointense - refers to areas that are darker
IV gadolinium is used after the above sequences obtained, if there are disturbances to the BBB then contrast will pass through and the area of pathology will enhance (such as in infection or tumours)

142
Q

Definition of encephalopathy

A

Change in a patient’s cognitive, behavioural or mental baseline

143
Q

Differentials of encephalopathy by system?

A

VITAMINS:
Vascular
Infectious/inflammatory
Traumatic/toxic
Autoimmune
Metabolic/malignancy
Iatrogenic/intussusception/idiopathic
Neoplastic/neurologic
Stroke/seizure/structural

144
Q

What is Cushing’s triad?

A

Bradycardia
Irregular respirations
Wide pulse pressure
Suggests raised ICP (late sign)

145
Q

Differences between lethargy, obtunded, stupor and coma?

A

Lethargy: can be wakened but easily falls asleep
Obtunded: similar to above but needs more stimulation to be roused
Stupor: able to be woken only with vigorous and painful stimulation but then promptly goes to sleep
Coma: unable to be awakened, even with vigorous and painful stimulation

146
Q

Toxic/metabolic DDx for acute encephalopathy?

A

Hypoglycaemia
Hyper/hyponatraemia
Other electrolyte disturbances
Hepatic or uraemic encephalopathy
Hypercarbia
Endocrine disorders (DKA, thyroid dysfunction)
Toxic ingesion
Medication overdose
Environmental exposure (CO)
Inborn errors of metabolism

147
Q

Vascular DDx for acute encephalopathy?

A

Diffuse anoxic (no O2) or hypoxic (low O2) injury
Arterial ischaemic stroke
Haemorrhagic stroke (subarachnoid, subdural, epidural)
Sinus venous thrombosis
Reversible posterior leukoencephalopathy syndrome

148
Q

Infectious DDx for acute encephalopathy?

A

Sepsis
Shock
Meningitis
Encephalitis
HSV encephalitis

149
Q

Neurological DDx for acute encephalopathy?

A

Acute demyelinating encephalomyelitis (ADEM)
Seizures (including postictal)
Status epilepticus
Complicated migraine

150
Q

Structural DDx for acute encephalopathy?

A

Tumour or mass
Hydrocephalus
Cerebral oedema
Obstructed VP shunt
Herniation

151
Q

Trauma DDx for acute encephalopathy?

A

Concussion
NAI
Diffuse axonal injury

152
Q

Immune mediated DDx for acute encephalopathy?

A

Autoimmune encephalitis
Paraneoplastic encephalitis

153
Q

Psychiatric DDx for acute encephalopathy?

A

Catatonia
Conversion

154
Q

Other DDx for acute encephalopathy?

A

Intussusception
Malignancy

155
Q

Meningitis vs encephalitis

A

Encephalitis refers to inflammation of brain parenchyma
Meningitis refers to inflammation of the overlying meninges

156
Q

Kernig sign

A

Hip and knee are flexed at 90 degree, and examiner is unable to extend one leg past 135 degrees due to pain, or patient flexes the opposite knee during the manoeuvre
Low sensitivity, reasonable specificity

157
Q

Brudzinski sign

A

Active neck flexion causes subsequent hip and knee flexion
Low sensitivity, reasonable specificity

158
Q

Contraindications for LP

A

Patient instability
Severe coagulopathy
Skin infection over the site of the LP
Concern for impending herniation

159
Q

When to consider imaging prior to LP?

A

Immunocompromised/immunosuppressed
History of CNS disease
New onset seizures
Presence of a focal neurological deficit or papilloedema

160
Q

CSF findings in bacterial meningitis

A

Very high WCC count (1000-5000), usually neutrophils >80%
Low glucose
High protein

161
Q

CSF findings in viral meningitis

A

WCC 50-1000, predominantly lymphocytes on differential (exceptions are TB and Lyme)

162
Q

CSF: serum glucose ratio in viral vs bacterial meningitis?

A

Normal is >0.5
Bacterial: <0.5
Viral: >0.5

163
Q

Clinical features of encephalitis

A

Fever >38 within 72 hours of presentation
Generalised/partial seizures
New onset of focal neurological findings
CSF WCC >5mm
Abnormality of brain parenchyma on imaging
Abnormality on EEG consistent with encephalitis

164
Q

Complications of bacterial meningitis

A

Hearing loss (esp with meningococcal and Hib)
Cognitive and developmental disability
Epilepsy
Hydrocephalus
Weakness
Endocrine dysfunction (diabetes insipidus, hypothalamic dysfunction)

165
Q

Overview of reversible posterior leukoencephalopathy syndrome (RPLS)

A

Also referred to as posterior reversible encephalopathy syndrome (PRES)
Pathogenesis thought to be multifactorial, in part due to failure of cerebral regulation of the BBB in the setting of hypertension and endothelial dysfunction with subsequent vasogenic oedema

166
Q

Clinical presentation of reversible posterior leukoencephalopathy syndrome

A

Headaches
Encephalopathy
Visual disturbances
Seizures
Any of the above in the setting of hypertension

167
Q

Risk factors for reversible posterior leukoencephalopathy syndrome

A

Chemotherapy or cytotoxic drugs (tacrolimus commonly)
Kidney disease
Post organ transplantation
Autoimmune disease
Eclampsia

168
Q

MRI findings in reversible posterior leukoencephalopathy syndrome

A

Symmetrical white matter changes in the posterior cerebral hemispheres
Other Ix - consider EEG if concerned for seizures

169
Q

Treatment and prognosis for reversible posterior leukoencephalopathy syndrome

A

Hypertension should be urgently treated
Treat any underlying aetiology, and anti epileptic agents are used to treat symptomatic seizures
Prognosis: generally favourable with full recovery

170
Q

Overview of ADEM

A

= acute disseminated encephalomyelitis
Characterised by acute presentation of encephalopathy, presumed to be due to a single demyelinating/autoinflammatory event
Commonly triggered by infection (classically a virus 1-8 weeks prior to presentation), or less commonly, immunisations

171
Q

Clinical presentation of ADEM

A

May include several focal neurologic deficits, including motor (hemiparesis), sensory deficits, brainstem dysfunction (e.g. oculomotor palsies, dysphagia, dysarthria) or ataxia, seizures may also be present
- can present with/without a fever
- may have other nonspecific symptoms (headache, vomiting, changes in behaviour)
- CANNOT be due to infection
- LP may show mild lymphocytosis

172
Q

MRI findings in ADEM

A

Diffuse lesions primarily in the cerebral white matter, but may also be in the grey matter

173
Q

Diagnosis of ADEM

A

Diagnosis of exclusion
- requires that no new clinical or MRI findings emerge three months or more after the initial episode of ADEM

174
Q

Management and typical course of ADEM

A
  1. Steroids
  2. IVIG
    Complete recovery in 60-90%, tends to only occur once (monophonic illness)
175
Q

ADEM vs MS

A

ADEM can present similarly to first episode of paediatric MS
- MS usually will not have features of fever or encephalopathy
- MS will have multiple episodes of symptoms, ADEM is a single episode by definition
- neuroimaging in MS tends to show more discrete white matter changes, and will not involve grey or deep brain matter as seen in ADEM

176
Q

Overview of anti-NMDA receptor encephalitis

A

An autoimmune syndrome that can present acutely or subacutely, with a wide range of symptoms
Associated with the presence of anti-N-methyl-D-aspartate (NMDA) receptor antibodies in serum and CSF
80% of cases are female

177
Q

Presenting features of anti-NMDA receptor encephalitis

A

Neuropsychiatric, catatonia
Encephalopathy
Refractory epilepsy
Autonomic instabilities
Speech disorder
Movement disorder

178
Q

Investigation for anti-NMDA receptor encephalitis

A

Serum and CSF for anti-NMDA receptor antibodies (sensitivity is 15% higher from CSF than from serum)
CSF: mild increase in WCC and increased protein can be seen, may have oligoclonal bands
MRI: normal in 50%, transient abnormalities otherwise
EEG: characteristic pattern called “delta brush”, and may show seizures
Consider workup for possible neoplasm

179
Q

Most common neoplasm associated with anti-NMDA receptor encephalitis in women?

A

Ovarian teratoma

180
Q

Treatment and prognosis of anti-NMDA receptor encephalitis

A

Treat seizures with AEDs as required
IV steroids and IVIG
Immunosuppressants such as rituximab
Treatment of any underlying neoplasm
Most have good recovery (but can be prolonged), can be associated with severe disability, mortality 4%
Risk of recurrence is present

181
Q

Physical examination for suspected brain death

A

Must be in a coma (completely unconscious, no vocalisation or volitional activity)
Determine absence of brainstem reflexes
Flaccidity with no spontaneous movements (excluding reflex withdrawal or spinal myoclonus)
Apnoea test (complete absence of respiratory effort by formal testing, demonstrating PaCO2 >60 and >20 above baseline)

182
Q

Assessment of brainstem reflexes for suspected brain death

A
  1. Pupils unreactive to light in the absence of drugs influencing pupillary activity
  2. No spontaneous or induced (oculocephalic, oculovestibular) eye movements
  3. No bulbar (facial or oral pharyngeal) muscle movement
  4. Absence of the following reflexes: corneal, gag, cough, sucking, rooting
183
Q

Role of ancillary testing in suspected brain death

A

Not required if patient fulfils criteria for irreversible cessation of brain function
Indicated if examination not possible (due to injuries etc) or unable to exclude confounding factors (sedation etc)
Can use EEG or cerebral blood flow assessment

184
Q

Indications for neuroimaging in a child with headaches

A
  • abnormal neurological examination or development of focal neurological symptoms/signs
  • seizures
  • an acute secondary headache
  • headache in children <6 years or in any child who cannot describe their headache
  • headache worst on waking, or waking child from sleep
  • migrainous headache in child with no family history of migraines
185
Q

Causes of headaches in occipital region

A

Cervicogenic
Arnold-Chiari malformation
Brain tumour
Vertebral artery dissection

186
Q

Causes of headaches precipitated by valsalva/worse when lying down

A

Arnold-Chiari malformation
All causes of increased CSF pressure

187
Q

Causes of headaches worse when upright

A

Intracranial hypotension (e.g. CSF leak)
Postural orthostatic tachycardia syndrome
Migraine

188
Q

Causes of sudden onset headache

A

Intracranial haemorrhage
Cerebral venous sinus thrombosis
Ischaemic stroke
Cervical artery dissection
Colloid cyst
Spontaneous intracranial hypotension
Sinusitis
Meningitis/encephalitis

189
Q

Most common type of primary headache in children?

A

Migraine

190
Q

Clinical presentation of migraine

A

History of >5 episodes
Pain lasts 2-72 hours
Have at least 2 of the following features: bilateral (can transition to unilateral), pulsating/throbbing character, moderate to severe intensity, aggravated by routine activities
May be associated with nausea or vomiting, photophobia, phonophobia

191
Q

Treatment of migraine

A

Healthy habits/headache hygiene
NSAIDs (avoid aspirin in children)
Triptans (e.g. sumatriptan) - avoid in hemiplegic migraine, CI in patients with CVS disease
Anti-emetics
Preventative treatments if frequent recurrence (amitriptyline, beta blockers etc)

192
Q

Migraines with aura

A

Up to 20% of children with migraines can have auras
Most common aura is visual changes
Second most common auras are sensory changes (paraesthesias, numbness)
Lower threshold for imaging than migraines without auras
Aura must resolve spontaneously and not last longer than 60 minutes, should precede headache onset by <20 mins

193
Q

Clinical presentation of hemiplegic migraine
(Can be sporadic or familial)

A

Present with not only motor weakness, but also without their sensory, language or visual changes concurrently preceding their headaches
During episodes, may have motor deficits, Babinski sign and unilateral hyperreflexia
[Diagnosis of exclusion after workup excluding other causes]

194
Q

Hemiplegic migraine genetic panel

A

Most commonly CACNA1A mutation (calcium channel)
Other genes such as ATP1A2, SCN1A or PRRT2

195
Q

Treatment of hemiplegic migraines

A

Acetazolamide for acute attacks
Beta blockers and triptans are avoided due to theoretical risk of stroke

196
Q

Clinical presentation of tension headache

A

10 attacks in a month, 30 mins to 7 days duration
Have at least 2 of the following features:
- bilateral
- pressing or tightening quality
- mild to moderate in severity
- not aggravated by routine activity
- may have photophobia OR phonophobia
- nil nausea or vomiting

197
Q

Examination and investigation of tension headache

A

Normal neurological examination
May have tenderness at sites of greater and lesser occipital nerves located in the posterior cranium
No investigations indicated

198
Q

Treatment of tension headaches

A

Similar to that of migraines in the acute setting
Less evidence for preventative treatment
- if required, amitriptyline is usual first line
Behavioural interventions

199
Q

Overview of pseudotumour cerebri

A

Previously called idiopathic intracranial HTN or benign intracranial HTN, but these terms no longer used due to risk of irreversible visual loss (i.e. not benign)
Can be divided into primary or secondary pseudotumour cerebri (PTC)

200
Q

Clinical presentation of psuedotumour cerebri

A

Obesity is a significant risk factor
Symptoms are similar to those of raised ICP - throbbing headache, nausea/vomiting, worsens with Valsalva manoeuvre
- other symptoms include transient decreased vision, pulsatile tinnitus, flashes of light (photopsia) and double vision
- if untreated, can lead to irreversible vision loss

201
Q

Criteria for diagnosis of PTC

A
  1. Opthalmological examination revealing papilloedema (OR cranial nerve VI palsy)
  2. Normal neurological examination
  3. Normal neuroimaging (including MRI brain)
  4. Normal CSF composition
  5. Elevated opening pressure on LP >25cm in non-obese children, >28cm in obese children
202
Q

If papilloedema or CN VI palsy not present, probable diagnosis of PTC can be made based on what features?

A

If at least 3 of the following neuroimaging criteria are found:
- empty sella
- flattening of the posterior aspect of the globe
- distention of the perioptic subarachnoid space with or without a tortuous optic nerve
- transverse venous sinus stenosis

203
Q

Treatment of pseudotumour cerebri?

A

Discontinue provoking medications
Acetazolamide is a first line treatment
Close ophthalmologic surveillance
Surgery - if symptoms refractory to treatment, if visual loss worsens, if visual fields decrease or if intractable headache is present (optic nerve fenestration or CSF shunt)
Treat headaches as per their phenotype

204
Q

Prognosis of pseudotumour cerebri?

A

Can have permanent visual loss if not diagnosed and treated
- risk factors include higher grade papilloedema and presenting symptom of visual loss

205
Q

Cerebral venous anomalies that are secondary causes of pseudotumour cerebri?

A

Cerebral venous sinus thrombosis
Bilateral jugular vein thrombosis or surgical ligation
Middle ear or mastoid infection
Increased RH pressure
SVC syndrome
AV fistula
Decreased CSF absorption from previous intracranial infection or subarachnoid haemorrhage
Hypercoagulable states

206
Q

Medications/exposures that are secondary causes of pseudotumour cerebri?

A

Antibiotics: tetracycline, minocycline, doxycycline, sulfa drugs
Vitamin A and retinoids
Hormones: human growth hormone, thyroxine, anabolic steroids, levonorgestrel
Withdrawal from chronic corticosteroids
Lithium

207
Q

Medical conditions that are secondary causes of pseudotumour cerebri?

A

Endocrine: Addison disease, hypoparathyroidism
Hypercapnia: sleep apnoea, Pickwickian syndrome
Anaemia
Renal failure
Turner syndrome
Down syndrome

208
Q

Diagnostic criteria for simple febrile seizure

A

Ages 6 months to 6 years in developmentally normal children, with no history of afebrile seizures
One seizure in 24 hours that lasts less than 15 minutes, with no focal features
Fever of >38 within 24 hours of seizure

209
Q

Complex febrile seizures

A

> 15 minutes, any focal features present, more than one in 24 hours, or in developmentally abnormal child

210
Q

Benign Rolandic epilepsy

A

Self-limited childhood epilepsy with centrotemporal spikes
Childhood onset (4-8 years)
Rolandic seizures (frontal operculum): hemifacial clonus with potential spread to arm or leg, typically from sleep, prominent postictal drooling
EEG: centrotemporal spikes that are active with sleep
Treatment optional, usually carbamazepine or oxcarbazepine
Typically outgrown by 16 years

211
Q

Juvenile myoclonic epilepsy

A

Juvenile onset (8-20 years)
Morning myoclonus, absence seizures, eventually GTCs
EEG: 4-Hz generalised spike and polyspike and wave, photosensitivity
Treat with broad spectrum AEDs: levetiracetam, valproate
Typically lifelong

212
Q

Features of West syndrome

A

Combination of infantile spasms, hypsarrhythmia on EEG and developmental regression
Considered an epileptic encephalopathy - causes include T21, TS, HIE
Peak incidence is 4-6 months of age
Spasms are cryptogenic (if no metabolic abnormality found) or symptomatic

213
Q

Management and prognosis of West syndrome

A

75% develop ID if untreated, and 50% with lifelong epilepsy
Improved long term outcomes if cryptogenic spasms are treated urgently (within 10 days), less clear outcomes with symptomatic spasms (and treatment is highly variable)
Treat with ACTH or steroids
- use vigabatran if due to TS

214
Q

Childhood absence epilepsy

A

Childhood onset (4-7 years)
Absence seizures only
Normal development, cognition, examination
EEG: 3-Hz generalised spike and wave pattern
Ethosuximide usually, can also treat with valproate or lamotrigine

215
Q

Lennox-Gastaut syndrome

A

Severe, refractory, lifelong epilepsy
Associated with significant intellectual impairment
Multiple seizure types, usually daily
- tonic seizures while asleep, also myoclonic/atonig/GTCs
Difficult to treat - clobazam, rufinadmide and CBD oil used

216
Q

First afebrile seizure workup

A

Rule out provoked seizure
Establish risk of further unprovoked seizures
Outpatient MRI and EEG
Typically do not need AED after first seizure

217
Q

Definition of status epilepticus

A

5 minute GTC seizure
10 minute complex partial or seizure cluster
10-15 minute absence

218
Q

Treatment of status epilepticus

A

Buccal/intranasal midazolam
Load with levetiracetam/phenytoin

219
Q

Overview of nonconvulsive status epilepticus

A

Typically presents with lack of return to baseline after convulsive seizures
Requires urgent EEG to diagnose
Treat with the same regime as convulsive status epilepticus

220
Q

Causes of neonatal seizures

A

Most common: HIE, infection
Less common: IVH, stroke, hypoglycaemia, hypocalcaemia, metabolic disorders, cerebral malformations
Rx: phenobarbital, levetiracetam or phenytoin

221
Q

Overview of ketogenic diet

A

High-fat, high-protein diet with almost no carbohydrates
Mechanism poorly understood
Avoid giving dextrose in fluids, and avoid liquid forms of medications

222
Q

Overview of VNS

A

Provides electrical stimulation to vagus nerve
May be used in refractory epilepsy
Must be shut off before any MR imaging
Mechanism of efficacy is poorly understood (and has variable results)

223
Q

AED: ACTH

A

Indication: West syndrome
SE: HTN, hyperglycaemia, gastric ulcers, insomnia, irritability, immune suppression

224
Q

AED: clonazepam

A

Indication: all epilepsy types
SE: somnolence, irritability, ataxia, withdrawal seizures

225
Q

AED: ethosuximide

A

Indication: absence seizures
SE: nausea and vomiting

226
Q

AED: lacosamide

A

Indication: focal epilepsy
SE: dizziness, tremor, diplopia, PR INTERVAL PROLONGATION

227
Q

AED: lamotrigine

A

Indication: generalised epilepsy, absence seizures, focal epilepsy, safe in pregnancy
SE: STEVENS-JOHNSON SYNDROME, tremor, ataxia, insomnia
Can use for bipolar or migraines
May WORSEN myoclonic seizures

228
Q

AED: levetiracetam

A

Indication: all epilepsy types, safe in pregnancy
SE: AGGRESSION, behaviour changes
Pyridoxine (vitamin B6) may help behavioural side effect

229
Q

AED: oxcarbazepine

A

Indication: focal epilepsy only
SE: HYPONATRAEMIA, somnolence, dizziness, diplopia, leukopenia

230
Q

AED: phenobarbital

A

Indication: neonatal seizures, all types
SE: sedation, cognitive changes, behaviour changes, irritability
Strong P450 enzyme inducer, induces own metabolism

231
Q

AED: phenytoin/fosphenytoin

A

Indication: mostly severe focal epilepsy or severe neonatal seizures
SE: CEREBELLAR DEGENERATION, GINGIVAL HYPERPLASIA, Stevens-Johnson syndrome, ataxia, dysarthria
Phenytoin is highly toxic if IVC extravasates (PURPLE GLOVE SYNDROME), which is why fosphenytoin is often used

232
Q

AED: topiramate

A

Indication: all epilepsy types, 3rd line in West
SE: RENAL STONES, METABOLIC ACIDOSIS, word finding difficulties, weight loss, anhidrosis, fatigue, limb and perioral paraesthesias

233
Q

AED: valproate

A

Indication: all epilepsy types, absence seizures
SE: HYPERAMMONAEMIA (+/- transaminitis), HEPATOTOXICITY (if <2 years), POLYCYSTIC OVARIAN SYNDROME, tremor, weight gain, lethargy, alopecia, N/V, decreased carnitine levels, pancreatitis, neutropenia
Contraindications: liver failure, mitochondrial disease and pregnancy

234
Q

AED: vigabatran

A

Indication: West syndrome, severe focal epilepsy
SE: IRREVERSIBLE VISUAL FIELD DEFICIT (controversial), sedation, diplopia, ataxia

235
Q

AED: zonisamide

A

Indication: all epilepsy types
SE: same side effects as topiramate, only are less frequent

236
Q

Arterial ischaemic stroke

A

Usually presents with acute onset of unilateral face/arm or face/arm/leg weakness, often with associated aphasia or neglect

237
Q

Overview of CP

A

Group of disorders, due to a static insult to the developing brain, leading to abnormal tone, posture and movement
The disorder is NOT progressive, but the clinical manifestations may change over time as the child develops

238
Q

Types of CP

A

Spastic: most common (>50%), present with UMN signs and contractures
- hemiplegia, diplegia, quadriplegia
Dyskinetic: involuntary movements (think hypoxic/ischaemic injury to basal ganglia)
- choreoathetotic, dystonic
Ataxis: uncoordinated, clumsy, slow/jerky speech

239
Q

CP: spastic hemiplegia

A

One side of the body is affected, typically an arm moreso than a leg
Often due to perinatal stroke

240
Q

CP: spastic diplegia

A

Bilateral legs more affected than arms
Often associated with periventricular leukomalacia

241
Q

CP: spastic quadriplegia

A

All limbs involved

242
Q

Choreoathetotic CP

A

Chorea: dance like movements
Athetosis: writhing movements
May also be caused by kernicterus (high bilirubin leading to brain dysfunction)

243
Q

Dystonic CP

A

Abnormal posturing

244
Q

Conditions associated with CP

A

Intellectual disability in up to 50% of patients
Epilepsy, vision and hearing problems, speech disorders, orthopedic problems

245
Q

Investigations in CP

A

Diagnosis predominantly based on history/exam
MRI may show evidence of prior stroke, hypoxic ischaemic injury, PVL or cortical malformations
May consider additional metabolic/genetic testing

246
Q

Treatment for CP

A

Supportive
OT, speech therapy
Ortho: serial casting, muscle-tendon surgery
For spasticity: botox, oral antispasmodics (e.g. baclofen, benzos), intrathecal baclofen

247
Q

Typical weakness pattern in brain lesion (motor cortex or internal capsule)

A

Often unilateral (on the CONTRALATERAL side), typically face/arm or face/arm/leg
= UMN
Other clues: if cortical - may have other cortical signs (e.g. left brain: aphasia, right brain: neglect)

248
Q

Typical weakness pattern in brainstem lesion

A

Crossed findings: ipsilateral face, contralateral arm/leg
= UMN
Other clues: the “d” symptoms: diplopia, dysarthria, dysphagia, dysphonia

249
Q

Typical weakness pattern in spinal cord lesion (corticospinal tract)

A

Often bilateral arm and/or leg weakness, spares the face
= UMN
Other clues: may have sphincter dysfunction - bowel/bladder incontinence, often with associated sensory level

250
Q

Typical weakness pattern in spinal cord lesion (anterior horn cell)

A

Often bilateral arm and/or leg weakness, spares the face
= LMN
Other clues: typically no sensory changes

251
Q

Typical weakness pattern in nerve root/plexus/peripheral nerve lesion

A

May see unilateral arm or leg weakness in a particular distribution
= LMN
Other clues: often sensory changes in same distribution, nerve root lesions (radiculopathies) are often painful

252
Q

Typical weakness pattern in NMJ lesion

A

Bilateral proximal, fatigable weakness
Other clues: may also involve bulbar symptoms (dysarthria, dysphagia) and respiratory insufficiency, no sensory changes

253
Q

Typical weakness pattern in muscle lesion

A

Bilateral proximal weakness
Other clues: no sensory changes, high CK

254
Q

Overview of transverse myelitis

A

Neuroinflammatory problem of the spinal cord with rapid onset of weakness, sensory changes and bowel/bladder dysfunction

255
Q

Causes of transverse myelitis

A
  • Post-infectious (e.g. West Nile virus, herpes viruses, HIV, Lyme disease, mycoplasma, syphilis)
  • CNS demyelinating disorder (MS, neuromyelitic optica, ADEM)
  • associated with systemic autoimmune diseases (SLE, Sjogren, sarcoidosis)
  • idiopathic
256
Q

Clinical presentation of transverse myelitis

A

Rapidly progressing bilateral weakness over hours to days (usually legs and sometimes arms if C-spine is involved)
Most patients have a sensory level
Bowel/bladder dysfunction (often retention)
UMN signs: initially low tone and deep tendon reflexes that progress to increased tone and hyperreflexia
If C spine affected, may have respiratory arrest (if diaphragm involved)

257
Q

Investigations in transverse myelitis

A

MRI with contrast of spinal cord: inflammatory spinal cord lesion not due to compression, vascular process, nutritional deficiency or neoplasm
- also check brain for lesions suggestive of MS
CSF: lymphocytosis with elevated protein

258
Q

Treatment and prognosis of transverse myelitis

A

IV glucocorticoids - typically for 3-5 days
Usually at least partial recovery, may take months to years

259
Q

Overview of spinal muscular atrophy (SMA)

A

Degeneration of the anterior horn cells (LMNs) of the spinal cord and motor nuclei (also LMNs) of the brainstem, resulting in symmetric flaccid weakness

260
Q

Clinical presentation of SMA

A

Diffuse symmetric weakness that is more proximal than distal, typically more prominent in the lower limbs
Restrictive, progressive, respiratory insufficiency
LMN signs: reduced muscle bulk, low tone, fasciculations (including tongue), minimal to absent deep tendon reflexes

261
Q

Types of SMA

A

Type 1: Werdnig-Hoffman disease, most severe (neonatal onset)
Type 2: sitters
Type 3: walkers
Type 4: adult onset

262
Q

SMA type 1

A

Most severe, neonatal onset
- decreased fetal movements in utero
- weak cry, poor suck and swallow, aspiration and tongue fasciculations
- typically alert expression and normal eye movements
- majority die before 1 year of age due to respiratory insufficiency

263
Q

SMA type 2

A

“Sitters”
Able to sit without support when placed in seated position

264
Q

SMA type 3

A

“Walkers”
Begins after child has started walking
Typically survive into adulthood and walk until 30s to 40s

265
Q

Investigation and management of SMA

A

Nerve conduction studies and muscle biopsy
Mutation in SMN1 gene
Supportive treatment: respiratory, nutrition, physical therapy, spinal bracing
Nusinersin - increases level of SMN protein, delays progress of disease

266
Q

Overview of acute flaccid myelitis

A

Unknown aetiology, but suspected to be caused by enterovirus (D-68) - related to polio
Affects anterior horn cells (as in SMA and polio)

267
Q

Clinical presentation of acute flaccid myelitis

A

Acute onset of focal limb weakness progressing over hours to days
- typically after respiratory illness 1-2 weeks prior
Respiratory failure requiring mechanical ventilation (depending on spinal level involved)
Typically NO change in mental status or seizures

268
Q

Investigation, treatment and prognosis of acute flaccid myelitis

A

MRI of spinal cord: non-enhancing lesions largely restricted to the grey matter
CSF: usually pleocytosis
Supportive treatment, no benefit with steroids/IVIG
Recovery is generally limited

269
Q

Neonatal brachial plexopathy

A

Cause: stretch of shoulder during birth (brachial plexus injury), RF: shoulder dystocia
Unilateral arm weakness from birth, asymmetric Moro reflex
Can have Erb palsy or Klumpke palsy
No treatment, most spontaneously resolve by 3 months (role for surgery if not)

270
Q

Erb palsy

A

C5 and C6 injury (sometimes also C7)
“Waiter’s tip” - arm hangs by the side and is rotated medially, forearm is extended and pronated

271
Q

Klumpke palsy

A

C8 and T1 palsy
= hand paralysis (claw hand +/- weak forearm)

272
Q

Guillain-Barre syndrome

A

Acute paralysing illness, thought to be due to an immune response against peripheral nerves leading to demyelination
Causes: infections (especially Campylobacter), less commonly immunisations, surgery, trauma
Polyradiculoneuropathy: multiple nerve roots and peripheral nerves are affected

273
Q

Clinical presentation of Guillain-Barre syndrome

A

Progressive, symmetric weakness that typically starts in the legs, and ascends upward with loss of deep tendon reflexes
Can have severe respiratory muscle weakness
Pain and paraesthesias are common
Dysautonomia is also common
Symptoms usually progress over 2 weeks
Alternative: Miller Fisher variant

274
Q

Miller Fisher presentation of Guillain-Barré syndrome?

A
  • ophthalmoplegia with ataxia and areflexia
  • may or may not have weakness
  • associated with GQ1b antibodies (ganglioside component of the nerve)
275
Q

Investigations in Guillain-Barré syndrome?

A

Albuminocytologic dissociation: elevated CSF protein with normal CSF white blood cell count
Nerve conduction studies: features of demyelination
Buzzword = increased F wave latency

276
Q

Treatment and prognosis of Guillain-Barré syndrome?

A

Supportive care - respiratory support, treat autonomic dysfunction, pain control, rehabilitation
IVIG hasten recovery
Note: glucocorticoids are NOT effective
Prognosis: recovery over weeks to months, most (up to 85%) recover with minimal or no disability

277
Q

Most common CNS tumour to cause precocious puberty?

A

Hypothalamic hamartoma

278
Q

Spinal myelomeningocele, beaked midbrain on neuroimaging and downward displacement of the cerebellar vermis and tonsils is also known as?

A

Arnold-Chiari malformation
Also known as Chiari II malformation

279
Q

Description of Chiari II malformation?

A

Also known as Arnold Chiari malformation
Spinal myelomeningocele, beaked midbrain on neuroimaging and downward displacement of the cerebellar vermis and tonsils

280
Q

Cerebellar tonsils which are misshapen and displaced below the level of the foramen magnum?

A

Chiari I malformation

281
Q

Small posterior fossa with cerebellar structures displaced into an occipital encephalocele?

A

Chiari III malformation
(the encephalocele can be high cervical or occipital, and often occurs with downward displacement of the brainstem into the spinal canal)

282
Q

Term for haemorrhage between the aponeurosis and periosteum?

A

= subgaleal haemorrhage
The space between the aponeurosis and the periosteum is a potential space, can hold about 250ml of blood

283
Q

Term for fluid between the periosteum and the scalp?

A

= caput succedaneum
Localised oedematous swelling of the scalp which can cross suture lines, usually benign and resolves spontaneously

284
Q

Term for haemorrhage between the periosteum and the skull?

A

= cephalhaematoma
Haemorrhage is contained within the suture lines (therefore not usually associated with large loss of blood volume)

285
Q

Moderate to severe headache, drowsiness, visual blurring, history of Crohn’s disease with a recent viral illness/poor oral intake?

A

Venous sinus thrombosis

286
Q

Miller-Fisher syndrome

A

Variant of Guillain-Barre syndrome
Presents with areflexia, ataxia, opthalmoplegia that commonly affects vertical gaze (especially upward gaze)

287
Q

Rapid onset of ataxia with nystagmus on lateral gaze?

A

Post infectious cerebellitis
Usually 2 weeks after illness

288
Q

Situation where APGAR scores are most helpful?

A

In cases of severe and sustained neonatal depression, Apgar scores become more reliable predictors of outcome
- overall are poor predictors of long term outcome, and are not designed to predict neurologic outcome

289
Q

Predictors of neurodevelopmental outcome in term infants with HIE?

A
  • seizures at <12 hours of age
  • abnormal EEG at 7 days of age
  • anuria or oliguria for more than 24 hours
  • neurological examination at 10 days of age
    NOT Apgar scores
290
Q

What is CMT1a?

A

Most common inherited neuropathy
Demyelinating disorder, due to duplication in PMP22 gene, AD inheritance
Presents with weakness and loss of sensation in the hands and feet
Nerve conduction: slowed conduction velocity, demyelination

291
Q

Decreased CMAP amplitude as a finding on nerve conduction studies?

A

Suggestive of axonal loss

292
Q

Standards of care in DMD management

A

Annual ophthal review (for boys on glucocorticoids due to risk of cataracts and raised intraocular pressure)
Annual DEXA scan once on steroids
ECG/echo 2 yearly, more frequent if symptomatic
Annual sitting spirometry

293
Q

Overview of benign paroxysmal vertigo in toddlers

A

Rare beyond 3 years
Attacks develop suddenly: ataxia (causing child to refuse to walk), appear frightened and pale, may have N/V, may have horizontal nystagmus
Vary in duration, frequency and intensity

294
Q

In what scenario is sodium valproate relatively contraindicated?

A

Children under 2 years - risk of fatal hepatotoxicity is highest in this age group

295
Q

Which antiepileptic drug is excreted predominantly unchanged in the urine?

A

Gabapentin - renal elimination, half life of 5-7 hours, no significant pharmacokinetic drug interactions, not significantly protein bound

296
Q

Cause of botulism?

A

Neuroparalytic syndrome due to the action of a neurotoxin from Clostridium botulinum (gram positive rod, spore forming, anaerobe, found on vegetables/fruit/soil)
- blocks presynaptic cholinergic transmission, affecting skeletal and smooth muscle and autonomic function

297
Q

Infant botulism

A

Rare but potentially life-threatening neuroparalytic syndrome due to the action of a neurotoxin from Clostridium botulinum
Majority: 2-8 months old

298
Q

Clinical features of botulism

A
  • acute onset of bilateral cranial neuropathies a/w symmetric descending weakness
  • typically present with constipation and poor feeding, then hypotonia and weakness +/- loss of deep tendon reflexes
  • autonomic signs: decreased tears/saliva, fluctuating HR and BP, flushed skin
  • CN dysfunction causes decreased gag, eye ROM, pupillary paralysis, ptosis
    Can progress to respiratory failure
299
Q

Diagnosis of botulinum toxin

A

Serum assays usually negative
Dx confirmed by isolation of C. botulinum spores from the stool

300
Q

Treatment for botulinum?

A

Antitoxin - equine antitoxin in children >1 year, human derived immunoglobulin in infants <1 year (American answer)
Good prognosis in uncomplicated cases, mortality in hospitalised cases is <1%, recovery may take months

301
Q

Chronic inflammatory demyelinating polyneuropathy (CIDP)

A

Rare, acquired disorder of peripheral nerves and nerve roots
Usually symmetric, and motor > sensory
Weakness in proximal and distal muscles
Usually diminished/absent reflexes

302
Q

Cardiac risk factor for brain abscesses?

A

Haematogenous spread is most common in children with cyanotic congenital heart disease (especially right to left shunts)

303
Q

Unilateral facial nerve palsy involving the forehead?

A

LMN problem, therefore possibly Bell’s palsy
- BP and femorals should be checked due to a/w coarctation of the aorta
- otoscope: due to acute media as possible cause of Bell’s palsy, or may show lesions seen in Ramsay-Hunt syndrome

304
Q

Primary brain vesicles?

A

Prosencephalon = forebrain
Mesencephalon = midbrain
Rhombencephalon = hindbrain

305
Q

Auditory verbal agnosia and speech regression suggest which epilepsy syndrome?

A

Landau-Kleffner syndrome
- EEG: electrical status epilepticus in sleep

306
Q

What is India ink staining used for?

A

Quick test to identify cryptococcal disease, previously first line
Now can do CSF dipstick for cryptococcal antigen (quicker)

307
Q

Trigonocephaly?

A

Caused by premature closure of metopic suture (metopic synostosis)
Narrow, triangle shaped forehead with prominent midline ridge

308
Q

Lesion in hippocampal region of mesial temporal lobe results in?

A

Automatisms in 60% of mesial temporal focal seizures involving the hands (fidgeting) and mouth (lip smacking)

309
Q

Cause of congenital myotonic dystrophy type 1?

A

Expansion of a CTG trinucleotide repeat in the non-coding region of DMPK
- diagnosed with triplet repeat studies

310
Q

Key neurophysiological findings in Guillain-Barre syndrome?

A

Slowed conduction velocities and conduction block (correlates with demyelination)
Both motor and sensory nerves are affected

311
Q

Use/AEs of CBD oil in seizure management?

A

Effective in reducing seizures in Dravet syndrome and Lennox-Gastaut syndrome
Associated with liver enzyme derangement (particularly transaminitis)

312
Q

Specific virus associated with development of ADEM?

A

Varicella

313
Q

Features of malignant hyperthermia?

A

Sudden onset of extreme fever, muscle rigidity, and metabolic and respiratory acidosis, with marked CK elevation, myoglobinuria may occur due to tubular necrosis and acute renal failure
- in the setting of GA or LA exposure

314
Q

Overview of periventricular leukomalacia

A

End stage lesion that results from hypoxic-ischaemic injury to the white matter of the developing brain
Seen in 32% of premature infants
Most commonly involves optic radiations adjacent to the trigone of lateral ventricle, and the anterior corticospinal fibres adjacent to the intraventricular foramen

315
Q

Clinical features of periventricular leukomalacia

A

Decreased visual acuity, inferior visual field constriction, visual cognitive impairment, ocular motility disturbances, and spastic diplegia
- often preterm infants with respiratory distress requiring ventilation, feed intolerance and apnoeas etc

316
Q

Which AED should be avoided in Dravet syndrome?

A

Sodium channel blockers such as lamotrigine and phenytoin should be avoided due to their potential to worsen seizures

317
Q

Metachromatic leukodystrophy

A

Most common hereditary leukodystrophy, AR, lysosomal storage disorder
Most common subtype is late infantile form, presents <3 years:
Gait abnormality, muscle rigidity, vision loss, impaired swallowing
MRI: bilateral symmetrical confluent areas of periventricular deep white matter signal change (hyperintense T2) around frontal and posterior horns

318
Q

Adrenoleukodystrophy

A

Usually presents >3 years with progessive impairment to motor and cognitive function, vision, and hearing
MRI typically involves deep white matter in parieto-occipital lobes and splenium of corpus callosum

319
Q

SCN1A associated with?

A

Dravet syndrome

320
Q

SCN1B associated with?

A

GEFS+ (generalised epilepsy with febrile seizures plus)

321
Q

Impact of topiramate half life by other AEDs?

A

Increases half life: valproate
Decreases half life: phenytoin, phenobarb, carbamazepine

322
Q

Visual symptoms such as scotoma or fortifications (brightly coloured spots or lines) or amaurosis (blindness or impaired vision), followed by headache or convulsions?

A

Benign occipital seizures

323
Q

Overview of tick paralysis?

A

Due to a neurotoxin released by a tick, causing both decreased nerve conduction (peripheral nerve affected) and presynaptic decrease in acetylchoine release (neuromuscular junction)

324
Q

Presentation and investigation of tick paralysis

A

Typically starts with lethargy and weakness, followed by acute ataxia, progressing to ascending flaccid paralysis
NO SENSORY INVOLVEMENT
CSF studies and neuroimaging typically normal
Rx: remove the tick, patients recover within hours

325
Q

Overview of Charcot-Marie-Tooth disease

A

Hereditary neuropathy affecting motor and sensory nerves
Most common: type 1, caused by PMP22 gene duplication (PMP = peripheral myelin protein), AD inheritance

326
Q

Presentation of Charcot-Marit-Tooth disease

A

Slowly progressive, symmetric distal weakness
- foot drop causing frequent tripping
Atrophy of distal muscles
Contractures of hands and feet due to weak distal muscles
- pes cavus (high arched feet)
- hammer toes
Gradual loss of distal sensation

327
Q

Investigation/treatment of Charcot-Marie Tooth

A

Ix: EMG/NCS
Rx: supportive care (stretching, orthotics), may need surgery on feet
No disease modifying treatment or gene therapy at this stage

328
Q

Overview of myasthenia gravis

A

Due to autoantibodies directed at acetylcholine receptors at the neuromuscular junction
Associated with thymic hyperplasia or thymoma in some patients

329
Q

Presentation of myasthenia gravis

A

Fluctuating, fatigable weakness in proximal limb, neck, ocular, bulbar and respiratory muscles
“Fatigable” weakness: worsens with activity, improves with rest
Ocular symptoms - ptosis, binocular diplopia
Bulbar symptoms - dysarthria, dysphagia
Respiratory muscle weakness

330
Q

Investigations in myasthenia gravis

A

Tensilon (edrophonium) test
- tensilon = acetylcholinesterase inhibitor
- positive test if after giving tensilon, immediate improvement in ptosis, opthalmoparesis or strength is observed
Acetylcholine receptor antibody testing
EMG/NCS

331
Q

Treatment of myasthenia gravis

A

Supportive: oral acetylcholinesterase inhibitors (pyridostigmine)
Immunomodulatory therapies
- acute: IVIG or plasma exchange
- chronic: steroids or steroid-sparing agents
Some patients may benefit from thymectomy

332
Q

Overview of congenital myasthenic syndromes

A

Due to genetic defects in the NMJ, no immune system involvement

333
Q

Presentation and investigation of congenital myasthenic syndromes

A

Onset at birth or early childhood (lifelong)
Fatigable weakness mainly affecting the ocular and bulbar muscles
Ix: EMG/NCS, genetic testing

334
Q

Treatment of congenital myasthenic syndromes

A

Pyridostigmine (treatment for myasthenia gravis) can WORSEN some subtypes
Albuterol or fluoxetine may be beneficial for some subtypes

335
Q

Overview of transient neonatal myasthenia gravis

A

Due to maternal acetylcholine receptor antibodies being transferred to the fetus
Only occurs in about 10-20% of infants born to mothers with myasthenia gravis

336
Q

Presentation and investigation of transient neonatal myasthenia gravis

A

Present with generalised weakness and hypotonia at birth, with intact deep tondon reflexes
Bulbar weakness is common, eye involvement (ptosis and opthalmoplegia) is less common)
Can be diagnosed on history, but if no known maternal myasthenia gravis then can assess response to acetylcholinesterase inhibitor (e.g. neostigmine)

337
Q

Treatment and prognosis of transient neonatal myasthenia gravis

A

Rx: supportive - neostigmine
Prognosis: must recover within a few weeks

338
Q

Mutations causing Duchenne muscular dystrophy and Becker muscle dystrophy?

A
  • gene encoding for dystrophin, on X chromosome (largest gene identified in humans)
  • dystrophin is on the cell membrane of muscle fibres
  • DMD: mutation disrupts reading frame (truncated protein)
  • Becker: mutations maintain reading frame (semifunctional protein)
339
Q

Presentation of DMD

A

Onset of weakness at 2-3 years
Proximal > distal, lower > upper extremities
Cals pseudohypertrophy (replacement with connective tissue and fat)
Gowers’ sign
Systemic signs: cardiomyopathy (~15yo), ortho (fractures, scoliosis), impaired pulmonary function, decreased gastric motility

340
Q

Presentation of Beckers muscular dystrophy

A

Semifunctional dystrophin
Later onset and milder symptoms than DMD
Still has significant cardiac involvement

341
Q

Ix in DMD and BMD

A

CK elevated
Genetic testing: for dystrophin gene mutations
Consider NCS and muscle biopsy if diagnostic uncertainty

342
Q

Treatment of DMD/BMD

A

Glucocorticoids - used for DMD patients (improves motor and pulmonary function, reduces scoliosis, possibly delays cardiomyopathy)
MDT supportive management - cardiac, pulmonary, orthopaedic

343
Q

Prognosis of DMD/BMD

A

DMD - typically in wheelchair by 12, often die in late teens to 20s from respiratory insufficiency or cardiomyopathy
BMD - walk past age 16, usually survive beyond 30 years

344
Q

Overview of myotonic dystrophy

A

Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG trinucleotide repeat, AD
Anticipation: trinucleotide repeat count increases over successive generations (next generation presents earlier, more severely)

345
Q

Presentation of DM1

A

Congenital - hypotonia, arthrogryposis, poor feeding and respiratory failure in the neonatal period
Childhood - first symptoms include cognitive and behavioural problems by 10 years, then develop respiratory muscle weakness, myotonia, cataracts, arrhythmias
- typical pattern of weakness: facial muscles, hand intrinsic muscles, ankle dorsiflexors
CK only mildly elevated, can do genetic testing and NCS

Written exam (21 decks)

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