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FRACP 2023 Cram Homicrons Edition > Neurology > Flashcards

Neurology Flashcards

1
Q

Most common location for spina bifida, most common type.

A

L3 and below 92%
Lumbosacral junction [L4] 42%

Most common type = open
- Meningoceles (bone + meninges) = 6% SB, 11% survivors
- Myelomeningocele (bones + meninges + nerves) = 94% SB, 89% survivors

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2
Q

Predictor of spina bifida patient achieving continence as adult?

A

Perineal sensation big predictor of achieving continence as an adult

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3
Q

Dx on this MRI?

A

Lissencephaly
Characterised by absence of cerebral convolutions + poorly formed sylvian fissure
(cortical thickness 10-20mm)

Sx: FTT, Microcephaly, Developmental delay , Seizure disorder

Syndromes
Miller-Dieker syndrome
Present in 15% of cases
Deletion of LIS-1 gene

Walker Warburg variant

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4
Q

Dx on this MRI?

A

Schizencephaly
Unilateral or bilateral clefts within the cerebral hemispheres due to abnormal morphogenesis
Borders of cleft surrounded by abnormal brain – microgyria

Symptoms
Bilateral: Severe ID, Seizures, Microcephaly, Spastic quadriparesis
Unilateral: Congenital hemiparesis

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5
Q

Dx on this MRI?

A

Porencephaly
- Cyst/cavity due to developmental defects/acquired- infarct/infection
- True: in sylvian fissue region, communicate with subarachnoid space/ventricular system
- Pseudo: perinatal/posttnatal, unilateral, do not communicate
- Neuronal migration- microcrphaly/abnormal gyri/ encephalocoele

Sx:
ID, seizures, quad/hemiparesis

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6
Q

Dx on this MRI?

A

Polymicrogyria
- Assoc intractable seizures

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7
Q

Dx on this MRI?

A

Heterotopia
- Assoc intractable seizures

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8
Q

Distinguish Type 1,2 & 3Arnold Chiari malformations, Dandy-Walker malformation

A

Arnold Chiari
- Type 1: Abnormal cerebellar tonsils, displaced FM
- Onset adolescence, ataxia/CN palsies/ headache
- Type 2: Displaced cerebellar vermis & tonsils, beaked midbrain, myelomeningiocoele (L/S)
- Progressive Sx in infancy
Type 3 (rare): Small posterior fossa & encephalocoele
- High mortality, ID, hypotonia

Dandy-Walker
- Dilation of 4th ventricle, cerebellar vermis hypoplasia, hydrocephalus

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9
Q

Dx of this MRI?

A

ADEM
Diagnosis:
- inflammatory or demyelinating cause
- acute or subacute onset
- multifocal areas of the CNS
The clinical presentation is polysymptomatic AND
Must include encephalopathy that may consist of one or more of the following
Behavioral change eg. irritability, lethargy
Alteration in consciousness eg. somnolence, coma

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10
Q

Causes of bacterial meningitis by age group

A

Children >2 months
Streptococcus pneumoniae
Neisseria meningitidis
Hib (unimmunized children)

Children <2 months
GBS
E. coli and other GN bacteria
Listeria monocytogenes

Immunodeficient
Pseudomonas
Staphylococcus aureus, CONS
Salmonella, Listeria
Fungal – Cryptococcus

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11
Q

Risk factors for developing MS with ADEM/ATM/NMOD

A

Optic neuritis/NMO
Rates of progression to MS in children vary from 13-46% (OVERALL = 30%)
Highest risk is within the first 2 years after diagnosis

Risk factors
Abnormal MRI brain at presentation = strongest risk for developing MS (ie. demyelination outside the visual system)
Age > 12 years
Presence of oligoclonal bands in the CSF

Idiopathic ATM = risk of MS diagnosis low
Up to 10 % in paediatric myelitis cohorts

ADEM Risk of subsequent diagnosis of multiple sclerosis is low (2-10%)

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12
Q

Causes of eosinophilic meningitis

A

Parasites
-Angiostrongylus cantonesis
-Baylisascaris procyonis
-Gnathostoma spinigerum
Bacteria
Virus
Fungus – Cocciodes

Malignancy – NHL, Hodgkin, Eosinophilic leukaemia
Drugs – ibuprofen, ciprofloxacin, intraventricular antibiotics
Others – VP shunts, hypereosinophilic syndrome

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13
Q

Indications for surgical drainage of CNS abscess

A

Neurosurgical intervention
Abscess >2.5 cm
Gas is present in the abscess
Multiloculated
Located in the posterior fossa
Fungus suspected

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14
Q

Common bugs in CNS abscess & ABx/duration

A

Streptococci (anaerobic and aerobic) – 60-70%
Staph Aureus – 10-15%
Anaerobes (Gram pos cocci, bacteriodes, fusobacterium) – 20-40%
Gram negatives (haemophilus spp, enterbactor, E.Coli, Proteus mirabilus, pseudomonas) – 20-30%
Fungi; aspergillus, Cryptococcus, candida (immunosuppressed)
Citerobacter and enterobactor (neonates)

Cefotaxime & metronidazole if neurologically stable, <2.5cm IV 4-6wks

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15
Q

MRI Dx?

A

Posterior reversible leukoencephalopathy syndrome - MRI shows increased signal intensity in the occipital lobe on T2 weighted images
Can be seen in children without hypertension
In all circumstances manifests with generalised motor seizures, headache, mental state changes, visual disturbances

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16
Q

EEG pattern with benign rolandic epilepsy

A

Large amplitude spikes or sharp waves maximal over centrotemporal region.

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17
Q

EEG pattern with hepatic encephalopathy

A

Frequent triphasic wave pattern.

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18
Q

EEG pattern with:
1. Low voltage waves evolving to seizures.
2. Burst supression & isoelectric pattern

A
  1. Stage 2 HIE
  2. Stage 3 HIE
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19
Q

EEG pattern with multifocal spikes and sharp wave pattern (hypsarrythmia)

A

Infantile spasms

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20
Q

Treatment relationship between valproate,carbemazepine & lamotrigine

A
  • Lamotrigine increases concentration of Carbamazepine (increased SFx) ‘L below C, pushes up’
  • Carbamazepine decreases concentration of Lamotrigine (decreased efficacy) ‘C over L, pushes down’
  • Valproate increases lamotrigine concentration ‘V below L, pushes up’
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21
Q

EEG pattern in Landau Kleffner

A

Features: auditory verbal agnosia and speech regression

EEG: electrical status epilepticus in sleep (ESES).

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22
Q

Complications of NF & when do they develop?

A
  • Intracranial neoplasms: Optic pathway gliomas 15% patients <6yrs
  • Scoliosis- 6-10yrs 10-25% of patients
  • Seizures- 2x general population
  • Hypertension- adulthood
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23
Q

Types of CP and causes

A

Spastic diplegia: PV- prem, ischaemia, infection + metabolic conditions
Spastic hemiplegia- stroke, thrombophilia, infection, congenital
Spastic quadriplegia: PVL, multicystic encephalomalacia
Ataxic CP- less common
Choreathetoid- basal ganglia, asphyxia, kernicterus, mitochondrial disorders

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24
Q

What does the GMFCS score measure

A

Child’s functional capacity in the home and school settings
- movements such as sitting, walking and use of mobility devices
- current function and aide requirement in future

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25
Q

Most common causes of arterial ischaemic stroke in children, and territory affected.

A

Arteriopathy 50%
Cardiac disease/cardioembolic stroke 25%
Thrombophilia

MCA most common territory affected

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26
Q

Most common causes of arterial ischaemic stroke in children, and territory affected.

A

Arteriopathy 50%
Cardiac disease/cardioembolic stroke 25%
Thrombophilia

MCA most common territory affected

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27
Q

DDx stroke, and defining features

A

Stroke: headache, hemiplegia/focal neurology, speech disturbance, lethargy

Migraine- evolving sx, short duration, FHx, N MRI

Seizure: added symptoms- movement, Todd paresis limited- MRI N or structural abn

Infection: fever, gradual onset, meningism

Demyelination: gradual onset, multifocal symptoms, encephalopathy- MRI multifocal lesions

Hypoglycemia: related to meals

Watershed infarcts: bilat defects, hypotension/CHD/sepsis

Hypertensive encephalopathy: HTN, bilateral visual Sx, encephalopathy

Metabolic Dx: multisystem, abn biochemical Ix, delays/regression

Vestibulopathy: veftigo, imbalance, gradual

Channelopathy: symptoms not localising, syndromic

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28
Q

DDx stroke, and defining features

A

Stroke: headache, hemiplegia/focal neurology, speech disturbance, lethargy

Migraine- evolving sx, short duration, FHx, N MRI

Seizure: added symptoms- movement, Todd paresis limited- MRI N or structural abn

Infection: fever, gradual onset, meningism

Demyelination: gradual onset, multifocal symptoms, encephalopathy- MRI multifocal lesions

Hypoglycemia: related to meals

Watershed infarcts: bilat defects, hypotension/CHD/sepsis

Hypertensive encephalopathy: HTN, bilateral visual Sx, encephalopathy

Metabolic Dx: multisystem, abn biochemical Ix, delays/regression

Vestibulopathy: veftigo, imbalance, gradual

Channelopathy: symptoms not localising, syndromic

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29
Q

Features of hydrocephalus

A
  • Sunsetting eyes – due to impingement of dilated suprapineal recess on the tectum
  • Macrocephaly
  • Bulging AF
  • Dilated scalp veins
  • Brisk DTRs/spasticity- disruption of C/S tracts
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30
Q

Drugs leading to tremor

A

Amphetamines
Valproate
TCAs
Caffeine
SSRIs

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31
Q

Degenerative diseases causing tremor

A

Mitochondrial diseases eg. Leigh syndrome
Wilson’s disease
Ataxia telangiectasia
Juvenile PD
SMA
Spasms Nutans

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32
Q

Rx for tremor

A

Beta blockers
Clonidine Primadone
DBS

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33
Q

Rx for tremor

A

Beta blockers
Clonidine Primadone
DBS

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34
Q

Rx for dystonia

A

? AE
? BDZ
Benztropine for neuroleptic-induced
Botox for focal dystonia
L-dopa trial – should be trialed first in case of dopamine responsive dystonia
Artane for torsion dystonia
Anticholinergic agent
May improve dystonia – particularly torsion dystonia
Side effects – urinary retention, mental confusion, blurred vision
Alcohol for torsion dystonia

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35
Q

Rx for dystonia

A

? AE
? BDZ
Benztropine for neuroleptic-induced
Botox for focal dystonia
L-dopa trial – should be trialed first in case of dopamine responsive dystonia
Artane for torsion dystonia
Anticholinergic agent
May improve dystonia – particularly torsion dystonia
Side effects – urinary retention, mental confusion, blurred vision
Alcohol for torsion dystonia

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36
Q

What condition is most associated with Tourettes

A

ADHD 50%
OCD 30%

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37
Q

Criteria for Tourettes disease

A

Multiple motor/vocal tics, most days ?1yr, <3mo tic free

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38
Q

Rx for Tourettes

A

Antidopaminergic drugs: fluphenazine/ risperidone, tetrabenazine
Alpha adrenergic agonist: clonidine
Topiramate
Botox
Habit reversal training

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39
Q

Pathophys of Freidrich’s Ataxia & symptoms/Rx

A

AR mutation in GAA triplet repeat encoding mitochondrial protein (FRATAXIN). More rpts = dysfunc. protein, accumulation of iron in mitochondria.

56-1300rpts = disease
Onset 10yrs ataxia- LL>UL, loss vib/prop
Dysarthria
N. Intelligence
Skeletal abnormalities, HOCM, DM

Rx: vit E, CoQ10

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40
Q

Features of opsoclonus-myoclonus. Incidence of neuroblastoma?

A

Infants: <2yrs, 50% will have neuroblastoma, irritability, ataxia, falling, myoclonus, tremor and drooling

Teenagers: post-infectious/idiopathic, some will have underlying teratoma

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41
Q

Pathophys of anti-NMDA encephalitis, features & Rx

A
  • 2nd most common cause of encephalitis after ADEM
  • F>M, >12yrs
  • IgG antibodies bind to the NR1 (or less commonly NR2)
  • Disinhibit excitatory pathways
  1. Frontal changes- psychosis/behavior change, movement disorders
  2. Language/autonomic instability
    - 50% have prodromal headache/fever

MRI-B abnormal 35%, CSF findings- pleocytosis/Oc bands, NMDAR1 Ab in CSF most sensitive

40% have underlying teratoma
Also assoc. mycoplasma, HSV

Rx: steroids, IVIG, rituximab
Full recovery 75-80% can be slow

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42
Q

What features distinguish seizure from syncope

A
  • Precipitating events, flaccid (syncope) vs stiff (seizure) when falling, tongue biting more common in seizures, post ictal confusion 2-20min in seizure, <30sec syncope

Convulsions and Incontinence does NOT distinguish
- 80% syncopal events convulse

43
Q

Mutation in Dravets

A

> 90% SCN1A

44
Q

First line AED in infantile spasms with TS?

A

Vigabitrin

45
Q

AED to avoid in Dravets

A

Carbamazepine/ Na+ channel blockers

46
Q

Therapies for Dravets

A
  • Avoid triggers- hyperthermia, exercise on hot days, vaccinate/antipyretics when sick, minimise photic stimulation
    1. Valproate +/- clobazam
    2. Topiramate/Keppra
    3. Ketogenic diet, cannabinoids, DBS/vagal nerve stim
47
Q

What AEDs are contraindicated in BECTs (Rolandic epilepsy)

A

Carbamazepine, lamotragine, phenytoin

48
Q

Best drug for absence seizures

A

Ethosuxamide (CCB)

49
Q

Best drug for absence seizures

A

Ethosuxamide (CCB)

50
Q

Effectiveness of non-pharmacological therapies in specific epilepsy syndromes

A

Surgery (if lesion): infantile spasm, focal epilepsies, Lennox-Gastaut

Ketogenic diet: infantile spasm, Dravets, Doose

Steroids: Infantile spasms, Doose, absence, BECTs, Landau-Kleffner

Vagal Nerve Stimulation: Dravet, Lennox Gastaut, partial epilepsy

51
Q

What increases risk for future epilepsy in febrile convulsions

A

Family history of epilepsy
Any neurodevelopmental problem
Atypical febrile convulsions (prolonged or focal)

no RFs = 1%
1 RF = 2%
2 RFs = 10%

52
Q

Dx on this MRI?

A
53
Q

Dx on this MRI?

A
54
Q

Type of mutation in Sturge Weber Syndrome

A

Somatic/sporadic (occurs after conception)

GNAQ gene-controls dev/func of BVs

55
Q

Tx suggested in SWS

A

Seizure control
Stroke prophylaxis- aspirin
Cosmetic laser
Glaucoma Rx

56
Q

VHL- tumors associated, relationship with retinal angiomas & cerebellar haemangioblastoma? Most common cause of death?

A

Tumors:
- Cerebellar haemangioblastoma
- Retinal angioma
25% of patients with cerebellar haemangioblastoma have retinal angiomas
- Cystic lesions of kidneys, pancreas, liver, epididymis
- Phaeochromocytoma
- Renal cell carcinoma most common cause of death

57
Q

Screening in VHL

A

1yr = annual evaluation for neurological symptoms, vision problems, hearing disturbance, BP and opthal examination

5 yrs = annual metanephrines, audiology assessment every 2 years, MRI with contrast of the interval auditory canal in those with repeat ear infections

16 yrs = annual abdominal USS, MRI of the abdomen, brain and spine every 2 years

58
Q

What condition does this child have? Neurodev. sequelae?

A

Linear Sebaceous Nevus Syndrome
- Sporadic mutation
- Feint > hyperkeratotic/yellow
- 2/3rds have neurological findings- cortical dysplasia, glial harmatoma
- Epilepsy up to 75%, ID up to 60%

59
Q

What condition does this child have? Neurodev. sequelae?

A

IP
- IKBKG gene XLD: Functional mosaicism with X inactivation, lethal in males
4 stages of skin lesion
1. Blistering & erythema 1-18mo
2. Verrucous- lasting 2-3mo
3. Hyperpigmentation- toddler -> adulthood
4. Alopecia- early 20s

Assoc CNS:
- 30% seizures, hemiparesis, ataxia, spasticity
- Seizures
- Dev delay/ID

Dystrophic nails & dental abnormalities

60
Q

What condition does this child have? Neurodev. sequelae?

A

PHACE
Posterior fossa abnormalities
Haemangiomas of face (large/complex)
Arterial abnormalities
Cardiac abnormalities- coarctation/carotid aneurysm/stenosis
Eye- glaucoma, cataracts, optic nerve hypoplasia

CNS assoc:
44% language delay
35% gross motor delay
8% fine motor delay
50% abnormal neurological exam

61
Q

What condition does this child have? Neurodev. sequelae?

A

Sturge-Weber
- Somatic/sporadic mutation, GNAQ gene
- Port wine stain- unilateral, opthalmic division of trigeminal nerve (only 30% of PWS have SWS)
- Leptomeningeal angiomas
- Abnormal blood vessels of eye

CNS assoc:
- seizures/epilepsy in 75-90%, develop first year of life, TC contralateral to side of lesion, often refractory
- Stroke like episodes/hemiparesis
- Headaches
- Dev delay

62
Q

What conditions is this lesion associated with?

A

Lisch nodule: NF1
- 90% by 21yrs

63
Q

What condition is this lesion associated with?

A

Axilliary freckling: NF1

64
Q

What condition is this lesion associated with?

A

Neurofibromas: NF1, NF2

65
Q

What condition is this lesion associated with?

A

Sphenoid wing dysplasia: NF1

66
Q

What condition is this lesion associated with?

A

Pseudoarthrosis- NF1

67
Q

What condition is this lesion associated with?

A

Forehead plaque: TS

68
Q

What condition is this lesion associated with?

A

Facial angiofibroma: TS

69
Q

What condition is this lesion associated with?

A

Shagreen patch: TS

70
Q

What condition is this lesion associated with?

A

Ash leaf macule: TS

71
Q

When do each of the NF1 features appear?

A

At birth:
- cafe au lait (^ in size & number)
- Disfiguring plexiform neurofibromas
- Sphenoid wing dysplasia
- Pseudoarthrosis

3-5yrs:
- Inguinal freckling
- 50% Lisch nodules
- 15% Optic pathway gliomas
- Learning disability

6-13yrs
- 10-25% Scoliosis
- 5% long bone dysplasia
- ADHD
- Headaches
- Increased risk of Ca- sarcomas

Post pubertal:
- 90% Lisch nodules
- 5-13% soft tissue sarcomas, malignant transformation of plexiform > MPNSTs
- HTN

72
Q

Most common manifestations in TS

A

CNS
Cortical tuber
90-100%
Subependymal nodule
90-100%
White matter hamartoma
90-100%
Subependymal giant cell astrocytoma
6-16%
Skin
Facial angiofibroma (adenoma sebaceum)
80-90%
Hypomelanotic macule (ash leaf)
80-90%
Shagreen patch
20-40%
Forehead plaque
20-30%
Peri and subungual fibroma
20-30%
Eyes
Retinal hamartoma
50%
Retinal giant cell astrocytoma
20-30%
Hypopigmented iris spot
10-20%
GI
Microhamartomatous rectal polyp
70-80%
Liver hamartoma
40-50%
Other
Angiomyolipoma (kidney)
50%
Cardiac rhabdomyoma
50%

73
Q

Major criteria for TS diagnosis. Definite, probable & possible criteria.

A

Definite = 2maj/ 1maj + 2min
Probable = 1mj+1min
Possible = 1 maj/2min

74
Q

Vaccines, infections associated with increased risk of GBS?

A

Infections
-GIT = campylobacter jejuni, H pylori
-Respiratory = Myocoplasma pneumoniae

Vaccines
-Rabies vaccine
-Influenza
-Oral polio vaccine
-Conjugated menincoccal C vaccine

75
Q

Antibodies in GBS

A

Antiganglioside A
Anti-GM1 🡪 campylobacter associated GBS
Anti-GQ1b 🡪 Miller Fisher syndrome
- opthalmoplegia, ataxia, areflexia (CN6 involvement)

Consider if CN involvement or significant ataxia

76
Q

Prognosis of GBS and poor prognostic factors

A
  • Children with FBS recover better than adults
  • 90% of children fully recover – small number have mild weakness
  • Relapses uncommon
  • Very small percentage later develop CIDP

Features predictive of poor outcome
Cranial nerve involvement
Intubation

77
Q

Features/cause of tick paralysis

A

Ixodes holocyclus
- East coasy
- Ascending symmetrical flaccid paralysis/CN involvement, opthalmoplegia & facial weakness

78
Q

Changes on NCS for axonal vs demyelinating pathology

A

Axonal = decreased amplitude, sensory fibres first
Demyelinating = decreased velocity

79
Q

Differentiate neuropathy & myopathy & dystrophy

A

Neuropathy (involves LMNs): distal >proximal, decreased DTRs

Myopathy (involves motor unit): proximal > distal, N DTRs, static/slowly progressive, findings only on genetics/ muscle Bx

Dystrophy (destruction of supporting proteins), progressive, elevated CK

80
Q

Cause of death by respiratory failure in DMD

A

Restrictive deficit resulting from weak intercostal and associated muscles
VC in early years increases with age and growth
IN the early teens, VC plateaus and then shows a steady decline
Respiratory failure typically occurs in late teens or early 20s – nocturnal hypoventilation and hypoxia
Rx: BIPAP/CPAP- discussions re palliation

81
Q

Differentiate FSHD/Emery Dreyfuss

A

FSHD- AD- onset late teens reduc triplet repeat D4Z4- toxic & kills protein, facial + scap/UL weakness- traps first, cannot do sit up/puckered face
- N CK level, Dx on genetic testing
- No treatments

ED- X linked, onset 5-15yrs, FSH weakness, NO facial weakness, DCM/stroke common
- CK elevated
- No Rx

82
Q

Earliest and most consistent signs pf MS?

A

Unilateral or bilateral but usually asymmetrical ptosis
Extra-ocular muscle weakness = progressive; NO defect in acuity itself, PEARL

83
Q

6y/o boy, broad gait, reduced sensation & power, decreased LL DTRs & urinary retention, UL exam normal

A

Transverse myelitis

Demyelinating neuropathy
Bilateral cord inflammation at a particular spinal level (can involve multiple)

Sx:
- Occurs hrs - weeks
- Sudden onset back pain/weakness/parasthesia & reduced reflexes
- Can procede to urinary retention/bowel incontinence

Ix:
- MRI to diagnose, CSF- pleocytosis/elevated protein, MOG/NMO ABs, serology

Rx: steroids, plasma exchange

84
Q

4y/o w weakness & funny feeling in their legs. Initially both feet, now whole LL, absent reflexes on exam. Recent gastro infection.

A

Guillian Barre
Ascending inflammatory polyneuropathy
LL>UL (20%)
Progresses over days-weeks
CN involvement common

Assoc: campylobacter, H.Pylori, mycoplasma
vaccines:
- Rabies
- Flu
- Oral polio
- Conjugated MenC

Features required for diagnosis:
1. Progressive weakness of more than one limb
2. Loss or decrease in deep tendon reflexes within one week of onset

Ix: NCS (axonal or demyelinating), Anti GM1/GQ1b ABs, CSF cytoalbuminologic dissociation, MRI Nerve root enhancement in 90%

Rx: IVIG, supportive
90% fully recover

85
Q

15y/o girl with tingling sensation in LL, imbalance & urinary retention. Previously has had 2x episodes of painful unilateral visual loss.

A

Multiple sclerosis
F>M, onset 2nd decade, if <6 (rare), more likely male

Optic neuritis + myelitis
Relapsing/remitting course

MRI- discrete spinal lesions on T2, LP may be N or have raised oligoclonal bands

Rx: steroids acute relapse
DMARDs- IFN beta
2nd line natalizumab, fingolimod- avoid live vaccines & risk of JC virus & PML

86
Q

SIADH vs cerebral salt wasting?

A

SIADH
- Increased ADH in response to infection, Ca, drugs
- Low plasma osmolarity/high osmolarity urine
- Euvolaemic hyponatremia
- Meds: SSRI, vincristine, CBZ/valp, cyclophosphamide
- Rx: fluid restriction/high salt, if seizures- 3% saline, demeclocycline can inhibit ADH

Cerebral salt wasting
- Infectious encephalitis, CNS tumors/surgery
- Mimics SIADH however is due to a primary defect
- Hyponatremia, low serum osmolarity/elevated urine osmolarity, polyuria
- Clinical evidence of dehydration distinguishes- ECF depletion- reduced turgor/increased HCT

87
Q

Sx & MRI changes with metachromic leukodystrophy?

A

AR- lysosomal storage disorder, most common leukodystrophy

<3yrs, abnormal gait, muscle rigidity & loss of vision & dysphagia

MRI: PV deep white matter- frontal & posterior horns

Looks like car wheels- cant see/drive

88
Q

Sx & MRI changes with adrenoleukodystrophy?

A

> 3yrs
Progressive motor, cognitive function impairment + vision & hearing loss

MRI: Deep WM- parieto-occipital

Changes up the back: slow kids sit up the back

89
Q

Sx & MRI changes with Krabbe Disease?

A

AR lysosomal storage disease (damage to myelin processing)- mimics other conditions

Behavior change/irritability, cognitive decline, opithsotonus, bulbar palsies

Cerebellar/WM change + PVL

90
Q

Sx & MRI changes with Leigh?

A

Subacute necrotising encephalomyelopathy

91
Q

Movement disorder- Hyperekplexia, describe?

A

Hyperekplexia = episodes of stiffness/exagerrated startles, retained primative reflexes.
Can be aborted by neck flexion

91
Q

Movement disorder- Hyperekplexia, describe?

A

Hyperekplexia = episodes of stiffness/exagerrated startles, retained primative reflexes.
Can be aborted by neck flexion

92
Q

Paroxysmal kinesigenic dyskinesia- Sx?

A
  • Rare genetic movement disorder
  • Dystonia can be elicited by exercise/certain postures
93
Q

Dopa-responsive dystonia- Sx?

A
  • Onset ~6yrs
  • Dystonic posturing of a lower limb
  • Responds well to levodopa treatment
94
Q

Infantile spasms within the 1st yr of life
- chorio-retinal lacunae and
agenesis of the corpus collosum.

A

Aicardi syndrome
- Resistant to AEDS
- X- linked dominant (lethal in males)

95
Q

Hypotonia in neonate, tonic spasms in clusters. Burst supression in sleep/wake

A

Otohara Syndrome

96
Q

4mo with infantile spasms that usually occur in clusters (particularly in drowsiness or upon arousal), developmental
regression & hypsarrythmia on EEG

A

West syndrome

97
Q

5yo with developmental delay,
multiple seizure types. 1-2Hz spike and wave with polyspike bursts in sleep

A

Lennox Gastaut

98
Q

5y/o boy previously well, recently noted to have difficulty speaking. 3-4x episodes of seizures.

A

Landau-Kleffner

99
Q

Types of myopathy and features

A

Central core
- Prox weakness
- Malignant hyperthermia (RYR1 mutation)

Nemaline rod
- Most common
- Face, limbs & neck

Myotubular
- Pain during exercise
- Difficulty walking

100
Q

Dx this EEG?

A

Landau-Kleffner

Continuous spike & wave during sleep
Epileptiform activity in temporal/parietal regions

101
Q

Diagnosis and management of septo-optic dysplasia?

A

Septo-optic dysplasia

Two of:
* Optic nerve hypoplasia
* Pituitary hormone deficiency
* Midline brain defects: absent septum pellucidum +/- corpus callosum

Ix: MRI-B, opthalmology, short synacthen test and growth hormone test to confirm central

Rx: glucocorticoid replacement first, then treat hypothyroid, GH deficiency and DI

102
Q

What AEDs to avoid in absence/myoclonic seizures?

A

CARBAMAZEPINE

Other drugs that should not be used are gabapentin, pregabalin, oxcarbazepine and tiagabine

FRACP 2023 Cram Homicrons Edition (29 decks)

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