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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
Most common causes of arterial ischaemic stroke in children, and territory affected.
Arteriopathy 50% Cardiac disease/cardioembolic stroke 25% Thrombophilia MCA most common territory affected
26
Most common causes of arterial ischaemic stroke in children, and territory affected.
Arteriopathy 50% Cardiac disease/cardioembolic stroke 25% Thrombophilia MCA most common territory affected
27
DDx stroke, and defining features
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
28
DDx stroke, and defining features
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
29
Features of hydrocephalus
- 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
30
Drugs leading to tremor
Amphetamines Valproate TCAs Caffeine SSRIs
31
Degenerative diseases causing tremor
Mitochondrial diseases eg. Leigh syndrome Wilson’s disease Ataxia telangiectasia Juvenile PD SMA Spasms Nutans
32
Rx for tremor
Beta blockers Clonidine Primadone DBS
33
Rx for tremor
Beta blockers Clonidine Primadone DBS
34
Rx for dystonia
? 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
35
Rx for dystonia
? 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
36
What condition is most associated with Tourettes
ADHD 50% OCD 30%
37
Criteria for Tourettes disease
Multiple motor/vocal tics, most days ?1yr, <3mo tic free
38
Rx for Tourettes
Antidopaminergic drugs: fluphenazine/ risperidone, tetrabenazine Alpha adrenergic agonist: clonidine Topiramate Botox Habit reversal training
39
Pathophys of Freidrich's Ataxia & symptoms/Rx
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
40
Features of opsoclonus-myoclonus. Incidence of neuroblastoma?
Infants: <2yrs, 50% will have neuroblastoma, irritability, ataxia, falling, myoclonus, tremor and drooling Teenagers: post-infectious/idiopathic, some will have underlying teratoma
41
Pathophys of anti-NMDA encephalitis, features & Rx
- 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
42
What features distinguish seizure from syncope
- 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
Mutation in Dravets
>90% SCN1A
44
First line AED in infantile spasms with TS?
Vigabitrin
45
AED to avoid in Dravets
Carbamazepine/ Na+ channel blockers
46
Therapies for Dravets
- 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
What AEDs are contraindicated in BECTs (Rolandic epilepsy)
Carbamazepine, lamotragine, phenytoin
48
Best drug for absence seizures
Ethosuxamide (CCB)
49
Best drug for absence seizures
Ethosuxamide (CCB)
50
Effectiveness of non-pharmacological therapies in specific epilepsy syndromes
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
What increases risk for future epilepsy in febrile convulsions
Family history of epilepsy Any neurodevelopmental problem Atypical febrile convulsions (prolonged or focal) no RFs = 1% 1 RF = 2% 2 RFs = 10%
52
Dx on this MRI?
53
Dx on this MRI?
54
Type of mutation in Sturge Weber Syndrome
Somatic/sporadic (occurs after conception) GNAQ gene-controls dev/func of BVs
55
Tx suggested in SWS
Seizure control Stroke prophylaxis- aspirin Cosmetic laser Glaucoma Rx
56
VHL- tumors associated, relationship with retinal angiomas & cerebellar haemangioblastoma? Most common cause of death?
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
Screening in VHL
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
What condition does this child have? Neurodev. sequelae?
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
What condition does this child have? Neurodev. sequelae?
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
What condition does this child have? Neurodev. sequelae?
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
What condition does this child have? Neurodev. sequelae?
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
What conditions is this lesion associated with?
Lisch nodule: NF1 - 90% by 21yrs
63
What condition is this lesion associated with?
Axilliary freckling: NF1
64
What condition is this lesion associated with?
Neurofibromas: NF1, NF2
65
What condition is this lesion associated with?
Sphenoid wing dysplasia: NF1
66
What condition is this lesion associated with?
Pseudoarthrosis- NF1
67
What condition is this lesion associated with?
Forehead plaque: TS
68
What condition is this lesion associated with?
Facial angiofibroma: TS
69
What condition is this lesion associated with?
Shagreen patch: TS
70
What condition is this lesion associated with?
Ash leaf macule: TS
71
When do each of the NF1 features appear?
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
Most common manifestations in TS
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
Major criteria for TS diagnosis. Definite, probable & possible criteria.
Definite = 2maj/ 1maj + 2min Probable = 1mj+1min Possible = 1 maj/2min
74
Vaccines, infections associated with increased risk of GBS?
Infections -GIT = campylobacter jejuni, H pylori -Respiratory = Myocoplasma pneumoniae Vaccines -Rabies vaccine -Influenza -Oral polio vaccine -Conjugated menincoccal C vaccine
75
Antibodies in GBS
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
Prognosis of GBS and poor prognostic factors
- 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
Features/cause of tick paralysis
Ixodes holocyclus - East coasy - Ascending symmetrical flaccid paralysis/CN involvement, opthalmoplegia & facial weakness
78
Changes on NCS for axonal vs demyelinating pathology
Axonal = decreased amplitude, sensory fibres first Demyelinating = decreased velocity
79
Differentiate neuropathy & myopathy & dystrophy
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
Cause of death by respiratory failure in DMD
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
Differentiate FSHD/Emery Dreyfuss
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
Earliest and most consistent signs pf MS?
Unilateral or bilateral but usually asymmetrical ptosis Extra-ocular muscle weakness = progressive; NO defect in acuity itself, PEARL
83
6y/o boy, broad gait, reduced sensation & power, decreased LL DTRs & urinary retention, UL exam normal
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
4y/o w weakness & funny feeling in their legs. Initially both feet, now whole LL, absent reflexes on exam. Recent gastro infection.
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
15y/o girl with tingling sensation in LL, imbalance & urinary retention. Previously has had 2x episodes of painful unilateral visual loss.
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
SIADH vs cerebral salt wasting?
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
Sx & MRI changes with metachromic leukodystrophy?
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
Sx & MRI changes with adrenoleukodystrophy?
>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
Sx & MRI changes with Krabbe Disease?
AR lysosomal storage disease (damage to myelin processing)- mimics other conditions Behavior change/irritability, cognitive decline, opithsotonus, bulbar palsies Cerebellar/WM change + PVL
90
Sx & MRI changes with Leigh?
Subacute necrotising encephalomyelopathy
91
Movement disorder- Hyperekplexia, describe?
Hyperekplexia = episodes of stiffness/exagerrated startles, retained primative reflexes. Can be aborted by neck flexion
91
Movement disorder- Hyperekplexia, describe?
Hyperekplexia = episodes of stiffness/exagerrated startles, retained primative reflexes. Can be aborted by neck flexion
92
Paroxysmal kinesigenic dyskinesia- Sx?
- Rare genetic movement disorder - Dystonia can be elicited by exercise/certain postures
93
Dopa-responsive dystonia- Sx?
- Onset ~6yrs - Dystonic posturing of a lower limb - Responds well to levodopa treatment
94
Infantile spasms within the 1st yr of life - chorio-retinal lacunae and agenesis of the corpus collosum.
Aicardi syndrome - Resistant to AEDS - X- linked dominant (lethal in males)
95
Hypotonia in neonate, tonic spasms in clusters. Burst supression in sleep/wake
Otohara Syndrome
96
4mo with infantile spasms that usually occur in clusters (particularly in drowsiness or upon arousal), developmental regression & hypsarrythmia on EEG
West syndrome
97
5yo with developmental delay, multiple seizure types. 1-2Hz spike and wave with polyspike bursts in sleep
Lennox Gastaut
98
5y/o boy previously well, recently noted to have difficulty speaking. 3-4x episodes of seizures.
Landau-Kleffner
99
Types of myopathy and features
Central core - Prox weakness - Malignant hyperthermia (RYR1 mutation) Nemaline rod - Most common - Face, limbs & neck Myotubular - Pain during exercise - Difficulty walking
100
Dx this EEG?
Landau-Kleffner Continuous spike & wave during sleep Epileptiform activity in temporal/parietal regions
101
Diagnosis and management of septo-optic dysplasia?
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
What AEDs to avoid in absence/myoclonic seizures?
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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