Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

FRACP Exam > Neurology > Flashcards

Neurology Flashcards

1
Q

Acquired epileptic aphasia

Landau-Kleffner Syndrome

A

clinical: normal development then regression in ability to comprehend spoken language at 3-7 yrs

-retain socially appropriate interaction and play patterns

EEG: pattern of status epilepticus in sleep; 80% develop clinical seizures

treatment: AED, steroids, IVIg

prognosis: variable, some may regain language skills

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Acute disseminated encephalomyelitis

A

definition: acute disseminated encephalomyelitis/post infectious encephalomyelitis

incidence: 1/100,000

pathophysiology: demyelinating AI disease of the CNS triggered by an environmental stimulus in susceptible individuals

  • usually post a viral infection (coronavirus, coxsackie, CMV, EBV, HSV)

clinical:

  • 4 weeks post febrile illness
  • fever, headache, vomiting, meningismus
  • rapid multifocial neurological deficits
  • lasts 2 to 4 weeks
  • 10% ongoing deficits

diagnosis:

  • MRI: abnormalities vary in location often involve thalami/BG
  • CSF: elevated protein

treatment:

  • corticosteroids, IVIg, plasma exchange
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Adrenoleukodystrophy

A

incidence: 1/40,000

genetics: XLR ABCD1 coding peroxisomal membrane, variable penetrance

genetic testing: gene sequencing

pathogenesis: peroxisomal disorder with progressive dysfunction adrenal cortex and CNS/PNS due to accummulation VLCFA

clinical 5 types:

  1. Childhood cerebral: 4-8yrs rapidly progressive
    - initial behavioural issues, auditory problems, poor vision, ataxia, seizures, spasticity/paralysis, hyperpigmentation gums
  2. Adolescent: 10-21 yrs as above but slower

investigations:

  • CT/MRI: lack of myelin in parieto-occipital lesions
  • CSF: elevated proteins
  • serum: elevated VLCFA, poor cortisol response

treatment: adrenal insuff, BMTx, Lorenzo’s oil, dietary restriction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Antiepileptic drug interactions

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Antiepileptics

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Antiepileptics associated weight gain

A
  1. Sodium valproate
  2. Gabapentin
  3. Carbamazepine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Chiari Malformations

A

definition: anatomic anomalies of the cerebellum, brainstem and craniocervical junction with downward displacement of the cerebellum

types:

  • Chiari I: abnormally shaped cerebellar tonsils displaced below level foramen magnum
  • Chiari II (Arnold Chiari): downward displacement cerebellar vermis and tonsils associated lumbosacral or thoracic myelomeningocele
  • Chiari III: rare displacement cerebellar structures into encephalocoele

pathogenesis Chiari II:

  • obstruction of CSF outflow through posterior fossa causing hydrocephalus
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Ataxia telangiectasia

A

incidence: 1:100,000

  • 2% caucasians carriers

defect: AR ATM gene defect Ch11q22-23 causing abnormal DNA repair/control

clinical onset <2yrs:

  • neuro: ataxia, loss of ambulation, chorea, dystonia, poor speech
  • eye: oculomotor apraxia, strabismus, nystagmus
  • skin: telangiectasia to eyes/nose/ears/extremities 5yrs
  • resp: sinopulmonary ix, pulmonary fibrosis
  • immune: low IgA/IgG/IgE
  • cancer: increased lymphoma, leukaemia, brain tumours (100x)

diagnosis: elevated AFP, MRI normal

prognosis: death by 25yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Becker muscular dystrophy

A

incidence: 1:100,000 (less common than DMD)

defect: X linked recessive dystrophin gene deletion

  • not frameshift so you get some dystrophin production

clinical:

  • onset later and milder than DMD
  • slowly progressive muscle weakness of the LL and pelvis follow by UL weakness
  • toe walking, calf hypertrophy and Gower’s manouver
  • ambulatory until 15yrs
  • cardiac involvement is more evident in BMD

diagnosis: elevated CK, muscle biopsy, genetic testing, EMG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Bell’s Palsy

A

incidence: 20/100,000

causes: OM, Lyme disease, VZV, HSV

clinical:

  • ipsilateral paralysis of face usually over hours
  • decreased secretion lacrimal gland (petrosal n.) and submandibular/sublingual nerve (chorda tympani n.)
  • loss taste anterior 2/3 tongue
  • loss sensation post auricular
  • hyperacusis (stapedius)

treatment: prednisone

prognosis: full recovery 90%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Benign focal epilepsy of childhood with CTS

(Benign rolandic epilepsy)

A

incidence: 4-10yrs, most common childhood epilepsy

symptoms:

  • sleep related face/arm movements
  • simple partial hemimotor/sensory symptoms, drooling, anarthria, hemiconvulsions, GTCS
  • NEVER DAYTIME SX

EEG: spikes in motor area and temporal lobes

prognosis: ALL outgrow, normal development 97%

treatment: carbamazepine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Brain tumour diagram

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Carbamazepine

A

use: complex partial (1st), partial (1st), generalised

mechanism: blocks Na channels

side effects: rash, hepatotoxicity, leukopaenia

rare: worses absence/myoclonic/astatic, aplastic anaemia, thrombocytopaenia, hepatic dysfunction

monitor: FBC/LFTs 1st 3 months, levels

CYP450 inducer: increased metabolism ethosuximide, lamotrigine, topiramate, sodium valproate

  • also increases OWN metabolism (autoinduction)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Causes flaccid paralysis

A

Paralysis from LMN lesion

Brainstem Stroke/encephalitis

Acute anterior poliomyelitis

Acute myelopathy

  • SOL (spine occupying lesion)
  • acute transverse myelitis

Peripheral neuropathy

  • GBS
  • post-rabies vaccine neuropathy
  • heavy metals, biologic toxins, drugs
  • acute porphyria
  • critical illness neuropathy

Disorders of Neuromuscular transmission

  • MG

Disorders of muscle

  • hypokalemia, hypophosphataemia
  • inflammatory myopathy
  • acute rhabdomyolisis
  • periodic paralysis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Causes of weakness

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Central core congenital myopathy

A

defect: AD RYR1 gene producing Ca release from SR

  • gene associated malignant hyperthermia

pathophysiology: uncoupling of excitation with calicium release

clinical: non-progressive, hypotonia, facial/proximal weakness, normal reflexes, hip dysplasia, kyphoscoliosis

diagnosis

  • biopsy: lack of core staining
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Charcot Marie Tooth disease

(Hereditary Motor Sensory Neuropathy)

A

definition: spectrum of disorders (CMT1-7) with mutation in one of several myelin structure, maintenance and formation genes

genetics (AD)

  • CMT1a (50%): PMP22 gene duplication causing demyelinating neuropathy

clinical:

early distal weakness with absent reflexes, pes cavus, hammer toe then:

  • distal calf atrophy with sensory (proprio/vibration) loss
  • atrophy instrinsic muscles hand/feet
  • kyphosis/scoliosis

diagnosis: genetic testing, nerve conduction

treatment: progesterone (increases PMP22), ascorbic acid, neurotrophin-3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Childhood absence seizures

A

onset: 3-12yrs

symptoms

  • induced by hyperventilation
  • brief acute onset staring without ictal period
  • 40% have GTCS in adolescence

etiology: 30% family hx

EEG: bisynchronous 3hz spike +wave

prognosis: remission in 40% with treatment

treatment: ethosuximide most effective

  • carbamazepine/phenytoin WORSEN SX
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Childhood ataxia

A

congenital malformations

  • chiari, Dandy-Walker, encephalocele, agenesis cerebellar vermis

infective

  • post-infectious (usually viral eg. VZV, echovirus), acute labrynthitis, cerebellar abscess

toxic

  • alcohol, thallium, toxic levels AED

metabolic

  • abetaloproteinaemia (steatorrhoea/FTT)

degenerative

  • ataxia telangiectasia, fredrich ataxia

migraine

  • basilar, BPV

vascular

  • ischaemic stroke, haemorrhagic stroke
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

clonazepam

A

use: absence (Lennon Gastaut), myoclonic, akinetic seizures, multifocal tic disorders

mechanism: enhances GABA, suppresses spike/wave discharge

  • associated tolerance

side effects: neuro (amnesia, ataxia), behaviour, drowsiness, agitation, irritability, depression, respiratory depression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

CYP450

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Diazepam

Midazolam

A

use: status

mechanism: enhances GABA

side effects: drowsiness, coma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Dravet Syndrome

(Severe myoclonic epilepsy of infancy)

A

genetics: SCN1A

clinical: 1st year prolonged febrile seizures

  • GTC both often hemiclonic
  • initially normal development/EEG
  • 1-4yrs: myoclonic, absence, clusters GTC
  • developmental arrest with EEG slow/polyspikes

treatment: drug resistant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Eosinophilic granuloma

A

definition: benign histiocytosis in adolescents/adults

clinical: lytic lesions in bone associated with pathological fractures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Epilepsy syndromes and EEG

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Erbs palsy

A

etiology: neonatal brachial plexus injury due to iatrogenic lateral traction of fetal head typically with shoulder dystocia

pathogenesis: C5/6 injury (50%), C5/6/7 (35%)

clinical:

  • weakness deltoid and infraspinatus (C5) and biceps (C6)
  • arm is adducted and internally rotated with forearm extended
  • in C7 is involved they also have flexed fingers/wrist
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Ethosuximide

A

use: absence (1st)

mechanism: blocks Ca channels

side effects: nausea, anorexia

rare: leucopaenia, pancytopaenia, rash

pharmacology: long half life

NO CYP450 effect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

First seizure recurrence

A

normal EEG: 25%

abnormal EEG: 54%

abnormal exam/EEG: 67%

  • 88% recurrences will occur within 2 years
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Frederich ataxia

A

defect: AR GAA repeat expansion (>77) Ch9q13 encoding frataxin protein (mitochondrial Fe removal)

diagnosis: genetic testing for repeat

pathogenesis: deficiency causes excess Fe and oxidative damage

clinical degeneration:

  • spinocerebellar tracts (proprioception)
  • dorsal column (vibration/fine touch/proprioception)
  • pyramidal tracts (corticospinal, corticobulbar)

also cerebellum, medulla

clinical:

  • neuro: ataxia LL>UL <10yrs and progressive, Romberg +ve, loss of reflexes/proprioception/vibration, dysarthric speech
  • skeletal: high arched feet, hammer toes, kyphoscoliosis

also: hypertrophic cardiomyopathy, DM 30%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Frontal Lobe Epilepsy

A

clinical: clusters of motor seizures often nocturnal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Gabapentin

A

use: adjuvant for poor control

mechanism: inhibits Ca channel

side effect: weight gain

rare: worsens myoclonic/absence, neurological sx

pharmacology: absorbed saturable AA uptake in GIT, inhibited antacids, renal excretion (unchanged)

half life: 5-7 hours (TDS dosing)

NO CYP450 effect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Genetic Epilepsy with Febrile Seizures

A

genetics: SCN1A

  • eg. Dravet syndrome

clinical:

  • febrile seizures >6 years
  • GTC seizures in adolescence then remission
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Herniation

A

central (midbrain): sunsetting

cingulate (sufalcine/frontal lobe): most common, coma

tonsillar: headache, neck stiffness, tilt, decreased GCS

transcalvarial (through #)

uncal (temporal): CNIII with PS input causing dilation of pupil

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Hypomelanosis of ito

A

etiology: unknown sporadic

clinical:

  • skin lesions 1st year: bizarre, patterned hypopigmented macules over body in demarcated whorls/streaks/patches in lines of Blaschko
  • also: MR 70%, seizures 40%, microcephaly 25%, muscular hypotonia 15%, opthal defects 25%
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Idiopathic intracranial hypertension

A

incidence: 1/100,000, obese women 15-44yrs

pathogenesis: signs of raised ICP without identifiable cause

clinical:

  • symptoms of raised ICP: papiloedema, CNVI palsy
  • headache: severe, lateral, throbbing
  • transient visual changes: diplopia, visual field loss
  • also: tinnitus, retrobulbar pain

associated conditions: Addison’s hypoPTH, OSA, anaemia, Behcet’s, SLE, PCOS, coag disorders

associated medications: GH, tetracycline, hyper vit A, nalidixic acid, nitrofurantoin, lithium, CS w/d, thyroxine

diagnosis:

  • LP: raised ICP
  • MRI: flattening posterior sclera, enhancing optic nerve

management: weight loss, low Na diet, carbonic anhydrase inhibitors, frusemide, surgical shunting

  • NO steroids

prognosis: lasts months to years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Idiopathic occipital lobe epilepsy

(Gastaut syndrome)

A

onset: later childhood

symptoms:

  • visual hallucinations, ictal blindness
  • tonic deviation of eyes, nystagmus, eye fluttering
  • diurnal seizures frequent but short
  • consciousness preserved

EEG: frontal occipital discharges

prognosis: remission unlikely

37
Q

Idiopathic occipital lobe epilepsy

(Panayiotopoul os syndrome)

A

onset: early childhood

symptoms:

  • prolonged focal seizures, ictal vomiting/pallor/salivation
  • associated ANS sx
  • consciousness impaired
  • head and eye version
  • seizures infrequent
  • associated sleep

EEG: frequent epileptic activity from occipital regions

prognosis: 25% single seizure, remission likely

treatment: AED only after 2nd seizure

38
Q

Incontinentia pigmenti

A

defect: X-linked dominant mutation in NEMO gene encodes nuclear factor-kB essential modulator protein involved in immune, apoptosis and inflammation

  • usually lethal in males so 97% patients are female

4 clinical stages:

stage I: erythematous streaks/plaques of vesicles on limbs/trunk in 1st week

stage II: blistering resolves with hyperkeratotic/verrucous plaques

stage III: hyperpigmented macules in whorls, patches, streaks in lines of blaschko

stage IV: hairless, anhidrotic, hypopigmented patches/streaks

also: CNS 30% (MR, seizures, microcephaly), dental anomalies 80%, nail anomalies 40%, eye defects 30%

39
Q

Infantile botulism

A

organism: C.botulinum gram positive rod spore forming

pathogenesis: 1-12 months ingestion of spores invade GI tract and release toxins in vivo

  • causes inhibition of release of acetyl choline in the NMJ

clinical: constipation, weakness, feeding difficulties, descending weakness, drooling, irritability, weak cry

treatment: botulinum antitoxin

40
Q

Infantile spasms

A

onset: 3-7 months

characteristic: symmetric/synchronous spasms with brief contractions followed by a longer tonic phase

symptoms

  • infantile spasms: frequent on waking
  • hypsarrythmia on EEG: electrical chaos
  • arrest of psychomotor development

west syndrome: triad of infantile spasms, hypsarrythmia and psychomotor developmental arrest

etiology: structural abnormalities, genetic, encephalopathy, T21, TS

treatment: prednisone

41
Q

Juvenille absence epilepsy

A

onset: >10yrs

symptoms:

  • infrequent absences but longer duration
  • occurs on waking
  • induced hyperventilation
  • 15% myoclonic sx

etiology: polygenic

EEG: fast poly spike wave discharges

treatment: ethosuximide

prognosis: remission lower than CAE

42
Q

Juvenille myoclonic epilepsy

A

incidence: 12- 18yrs, 10% all epilepsy

symptoms: early morning myoclonus

  • can have GTCS on waking
  • triggered sleep deprivation, fatigue, EtOH

etiology: genetic

EEG: 4-6Hz poly spike wave slow discharge

prognosis: lifelong but response to treatment

treatment: valproate

43
Q

Klumpke’s palsy

A

etiology: brachial nerve injury with shoulder traction during birth

pathogenesis: C8/T1 injury (lease common)

clinical: isolated hand paralysis and Horner’s syndrome

44
Q

Krabbe disease

(Globoid cell leukodystrophy)

A

defect: XLR deficiency of galactocerebrosidase (LSD)

pathophysiology: accummulation of loposomes

clinical:

- infantile: 5 months, irritable, DD, spasticity, absent reflexes, optic atrophy, microcephaly

j_uvenille:_ weakness, loss of skill/vision

diagnosis:

MRI: occipito-parietal changes

CSF: elevated protein

45
Q

Lamotrigine

(Lamictil)

A

use: partial, GTCS, absence, tonic/atonic (1st)

mechanism: blocks Na channels, decreases GLUT release

side effect: rash (within 2 months)

rare: worses SMEI, SJS, hypersensitivity

half life: 22-37 hours

NO CYP effect

46
Q

Leigh syndrome

A

definition: subacute necrotising encephalopathy

pathophysiology: altered mitochondrial metabolism

clinical: onset infancy

  • dev delay, psychomotor regression, ataxia, dystonia, external opthalmoplegia, seizures, lactic acidosis, vomiting, weakness

diagnosis

histology: bilateral symmetric necrotizing lesions with spongy changes and microcysts in the basal ganglia, thalamus, brainstem, spinal cord

MRI: abnormal white matter signals in putamen, brainstem, basal ganglia

serum: elevated lactate

LP: elevate lactate/protein

prognosis: death within months of disease

47
Q

Lennox Gastaut syndrome

A

incidence: 2-3% childhood epilepsy, M>F

onset: 3-5yrs

symptoms (triad):

  1. generalised seizures or atypical absence
  2. interictal EEG: <2.5Hz slow spike wave
  3. MR

etiology: 30% previously normal, some evolve from infantile spasms

EEG: slow spike wave

prognosis: intractable seizures, MR

treatment: valproate

48
Q

Levetiracetam

(Keppra)

A

use: partial seizures adjunct

mechanism: unknown

side effects: sleep disturbance, psychosis, behavioural issues, fatigue

pharmacology: renal excretion

NO CYP450 effect

49
Q

Localisation motor neuron disease

A
50
Q

Long term neurological outcomes

  • neonates-
A
51
Q

Management seiziure

A

1st drug: 50% seizure free

2nd drug: 18% seizure free

  • 33% remain drug resistant
52
Q

Metachromic leukodystrophy

A

incidence: 1:100,000

defect: AR mutation ARSA gene coding arylsulfatase A

pathogenesis: accummulation of cerebroside sulfate destroying myelin

clinical 3 types:

  1. Late infantile: 1-2yrs
    - weakness, hypotonia, absent reflexes, bulbar palsy, ID
    - within 1 yr can’t sit supported/decorticate posture and die by 6 yrs
  2. Juvenile: 3-16yrs symptoms as above
  3. Adult: >16yrs with personality/psychiatric disturbances

investigations:

  • slowed nerve conduction
  • MRI: diffuse lack of white matter/cortical atrophy

treatment: BMTx

53
Q

Migraine management

A

Abortive treatment

1st line: NSAIDS, naproxen

  • avoid aspirin

2nd line: triptans (serotonin agonist)

Prophylaxis

1st line:

  • <6yrs cryoheptadine (histamine/serotonin antagonist)
  • >6yrs propranolol
  • valproate/topiramate if not tolerating above
  • amitriptyline if mixed disorder/depression
54
Q

Mitochondrial myopathy

A

definition: group of disorders caused by mitochondrial respiratory chain dysfunction

pathophysiology: dysfunction of organs with aerobic metabolism

Disorders

Barth syndrome: XL cardiomyopathy, myopathy, cyclic neutropaenia

Leber hereditary optic neuropathy

Leigh syndrome: subacute necrotizing encephalomyopathy

MELAS: mitochondrial encephalopathy with lactis acidosis and stoke like symptoms

Pearson syndrome: sideroblastic anaemia and pancreatic dysfunction

diagnosis

serum: high lactate

biopsy: accummulation of mitochondria “ragged red fibres”

55
Q

Moya Moya

A

incidence: 1/100,000 all ages but rare infancy

pathogenesis: chronic progressive cerebrovascular disease characterised by bilateral stenosis/occulsion of the arteries around the CoW

clinical: TIA, ischaemic stroke, haemorrhagic stroke, epilepsy

associations: meningitis, haem conditions, AI disease

imaging:

CT: infarction

MRI angio: stenosis or occlusive leasions in the distal internal carotid arteries and circle of willis

56
Q

Myoclonic absence epilepsy

(Tassinari syndrome)

A

symptoms:

  • behavioural arrest
  • upward myoclonic jerking upper limbs
  • proviked by hyperventilation

EEG: 3Hz spike wave

Prognosis: poor response to treatment

57
Q

Myoclonic astatic epilepsy

A

onset: 1-8yrs

symptoms: myoclonic/myoclonic astatic seizures

  • fall due to myoclonic jerk

EEG: paroxysmal 4Hz theta bursts with fast generalised spike/polyspikes

prognosis: variable

treatment: valproate

58
Q

Myotonic dystrophy

A

incidence: 1/7,000

transmission: AD (mother 94%)

defect DMI1: CTG triplet repeat expansion >50 copies in gene DMPK for myotonic dystrophy protein kinase

defect DM2 (rarer/milder): CCTG repeat in ZNF9 gene

  • with anticipation

defect DM3 (late form): Ch15

biopsy: increased interalised nuclei, atrophic muscle

clinical: myopathic facies, myotonia, weakness distal>proximal

  • facies: scalloped, concave temporalis muscle, tented V upper lip, ptosis, high palate, long thin neck/tongue
  • CNS: personality, MR 24%, dysphagia
  • endocrine: delayed puberty, hypogonadism, DM, hypothyroidism
  • eyes: cataracts, ptosis
  • resp: hypoventilation, asp pneumo, anaesthetic complications
  • cardiac: HB, arrhythmias, cardiomyopathy
  • GI: dysphagia, constipation, megacolon, low IgG

severe neonatal form: polyhydramnios, weakness, hypotonia, respiratory distress

  • usually babies to symptomatic mothers (DM1)

diagnosis:

  • serum: CK in 100s
  • DNA: abnormal CTG repeat
59
Q

Nemaline congenital myopathy

A

incidence: most common congenital myopathy

genetics: heterogenous

pathophysiology: abnormalities in thin filaments of skeletal muscle

clinical: weakness proximal, hypotonia, motor delay, respiratory insufficiency, feed intolerance, EOM spared

  • NO cardiac involvement

diagnosis:

  • serum: elevated CK
  • biopsy: rod bodies in muscle
60
Q

Nerve conduction studies

A

measure 2 parameters:

latency: velocity of conduction

  • decreased in demyelination

amplitude: measures peak conduction

  • decreased in axonal loss
61
Q

Neural tube defects

A

encephalocoele: midline defect skull with protrusion meninges/brain

myelomeningocoele: herniation of meninges/SC through vertebral defect

pathophysiology

  • genetic: 1 child/parent 4%, 2 children 10%
  • folic acid deficiency: 0.5mg low risk decreases 36%, 5mg high risk decreases 85%
  • drugs: trimethoprim, anticonvulsants, MTX, clomiphene
  • maternal comorb: DM, hyperthermia
62
Q

Neuroleptic Malignant Syndrome

A

pathophysiology: increased calcium release from SR

causes: adverse effect to antiepileptic or antipsychotic

risk factors: increased rapid dose, potent drugs, NMDA meningitis

clinical: muscle rigidity, fever, autonomic instability, cognitive changes (delirium), altered GCS

management: cease agent, dantrolene

*serotonin syndrome is similiar but with decreased reflexes

63
Q

Neuronal ceroid lipofucinosis

A

definition: lysosomal storage disease (most common neurodegenerative disease of children)

pathogenesis: abnormal accummulation of lipofuscin in organs

clinical:

  • infantile: 1st with myoclonic seizures, MR, blindness, brown discolouration macula, ataxia, death <10yrs
  • late infantile: 2-4yrs with dementia, ataxia, decreased VA and microcephaly
  • juvenille: 5-10yrs, decreased VA, intellectual impairment

diagnosis:

histology: storage of autofluorescent substance in lysosomes

64
Q

Nightmares

A

clinical:

  • last 1/3 night in REM sleep
  • mild-high autonomic arousal
  • easily awoken
  • sometimes increased sleep deprivation
  • rarely FHx
65
Q

Noctural seizures

A

clinical:

  • non-REM>awake>REM
  • usually sleep-wake transition
  • variable autonomic arousal
  • amnesic to event
  • associated incontence, biting, drooling, postictal period
  • increased with sleep deprivation
66
Q

Optic neuritis

A

incidence: 6/100,000

pathogenesis: inflammatory and demyelination of the optic nerve

clinical:

  • women (2/3) at 20-30 yrs
  • monocular visual loss (10% bilateral more in children 12-15yrs) over hours to days
  • eyes pain in 90%

associations: MS

67
Q

PANDAS

Paediatric AI Neuropsychiatric Disorders

associated Group A Streptococcus

A

definition: OCD or tic exacerbations by Group A strep infections

pathogenesis: AI response with CNS manifestations

68
Q

Parasomnias

A

age: 4-12 years

clinical:

  • 1st 1/3 of sleep with slow wave sleep (non-REM)
  • awakes abruptly with scream/agitation
  • flushed, sweating and tachycardic
  • may jump out of bed
  • unresponsive to carming
  • no memory of event
  • increased sleep deprivation
  • common FHx

investigations: if OSA, restless legs, safety, or >1/night

EEG: high amp, rhythmic delta or theta activity

management (only if problematic):

  • behavioural techniques: wake prior to event
  • medication: low dose benzo
69
Q

Periventricular leukomalacia

A

pathogenesis: white matter injury from focal necrosis secondary to infection/ischaemia resulting cystic formation

  • most common in premature infants as premature brain more vulnerable to vascular cellular factors

clinical: CP, ID, visual disturbances

70
Q

Phenobarbitone

A

use: neonatal (1st), status

mechanism: enhances GABA, blocks Na channels, binds NMDA

side effects: rash, megaloblastic anaemia, osteomalacia, DD

rare: SJS, hepatic dysfunction

monitor: levels

pharmacology: renal excretion

CYP P450 inducer: increased metabolism carbamazepine, ethosuximide, lamotrigine, sodium valproate

71
Q

Phenytoin

(dilantin)

A

use: status (1st), neonatal (1st), partial, GTCS

mechanism: blocks Na channels

side effects: hirsutism, megaloblastic anaemia

side effects: WORSENS absence seizures, hepatic dysfunction, LN, movement disorders, SJS, hepatic dys

monitor: levels

pharmacology: zero order, narrow TI

CYP450 inducer: increased metabolism carbamazepine, ethosuximide, lamotrigine, topiramate, sodium valproate

72
Q

Pinealoma

A

pathophysiology: tumour pineal gland (control circadian rhythm)

  • pineocytes, astrocytomas or germ cell

clinical: insomnia

  • may be associated Parinaud’s syndrome: paralysis upward gaze, nystagmus, eyelid retraction and light near dissociation
73
Q

Pompe disease

(congenital)

A

defect: glycogen storage disease II

  • AR mutations in GAA causing lysosomal acid maltase deficiency

clinical: onset 4months

  • cardiomyopathy respiratory compromise, severe generalised muscular hypotonia, macroglossia, hepatomegaly

diagnosis: (on Guthrie)

  • serum: CK++++++
  • biopsy: myopathy with glycogen within lysosomes
  • EMG: myopathic changes

treatment:

  • enzyme replacement (myozyme)
  • high protein/low carb diet
74
Q

Porencephaly

A

pathogenesis: congenital porencephalic cyst/s appear as a fluid-filled cavicuty in the cerebral hemisphere

  • intra-axial and lined with white matter
75
Q

Renally excreted antiepileptics

A

Most antiepileptics lipid soluble (cross BBB) and hepatic metabolism

3 EXCEPTIONS with renal metabolism: gabapentin, levetiracetam, vigabatrin

*Na valproate is water soluble but still hepatic metabolism

76
Q

Reye Syndrome

A

incidence: 1/million

pathogenesis: inborn error of metabolism predisposing

clinical: days post viral illness (influenza A/B) or aspirin

  • rapidly progressive encephalopathy
  • vomiting, confusion, seizures and coma
  • hepatomegally

diagnosis: mild elevated LFTs, increased PT, high ammonia/BGL, metabolic acidosis

77
Q

Sensory innervation of the hand

A
78
Q

Severe myoclonic epilepsy of infancy

A

onset: <1 yr

symptoms:

1st year: atypical hemiclonic generalised febrile seizures

2nd year: afebrile focal polymorphic seizures

etiology: sporadic mutations in SCN1A (Na channel)

EEG: initially normal then multifocal polyspike waves

prognosis: developmental regression, ataxia, temp/photic sensitivity trigger seizures

treatment: valproate, topiramate, clonazepam

79
Q

Sodium valproate

A

use: GTC (1st), myoclonic (1st), absence, partial, akinetic

mechanism: enhances GABA, blocks Na channels

side effects: anorexia, amenorrhoea, weight gain, alopecia, hepatotoxicity

rare: pancreatitis, hepatic failure, hyperammonaemia

pharmacology: near complete bioavailability, liver failure (2nd drug/<3yrs)

half life: 8-12 hours

CYP inhibitor: decreased metabolism lamotrigine, carbamazepine, phenytoin, phenobarbitone

80
Q

Spinal muscular atrophy

A

defect: AR mutation SMN1/SMN2 gene producing SMN protein

pathophysiology: loss of SMN protein causes loss of neurons from AHC and sx of motor nerves

types (see table)

clinical:

  • progressive muscle wasting (proximal>distal)
  • areflexia
  • developmental delay

diagnosis:

  • serum: CK normal/elevated
  • genetic testing: SMN gene
  • biopsy: perinatal denervation
  • EMG: active denervation
81
Q

Sturge Weber syndrome

A

NOT inherited

pathogenesis: vascular disorder of capillary vessels

  • etiology unknown

clinical:

facial angioma: (port-wine stain) forehead/upper eyelid in distribution 1st/2nd trigeminal nerve, apparent at birth

  • BUT 90% PWS NOT SWS

l_eptomeningeal angioma_: 90% when PWS involve upper and lower eyelids, 10% if one eyelid

ALSO

  • ocular: glaucoma (bupthalmos: congenital open angle glaucoma 50%), vascular malformations
  • neuro: seizures, focal deficiits, MR (50% adults), behaviour issues, visual field defect, hydrocephalus
  • growth hormone deficiency

diagnosis:

  • MRI: presence of leptomeningeal angioma

prognosis: depends on extent leptomeningeal angioma

82
Q

Teeth

A

development in utero:

  • dental lamina formed around the 4th to 6th week - development permanent teeth at 20th weeks
  • calcification of the primary embryonic tooth at 3-4 months

eruption of Primary Teeth:

  • 6 months- 2 years
  • central/lateral incisors then the first primary molars, canines and the second primary molars

eruption of Permanent Teeth:

  • upper and lower incisor teeth are exfoliated first 6 to 8yr and remaining canine 9 to 12yrs
  • the initial permanent teeth to appear are the first permanent molars behind the last standing primary molar
83
Q

Temporal Lobe Epilepsy

A

incidence: 10 yrs- adult

risk factors: febrile seizures, CNS infection, trauma

clinical: focal w/o changes in awareness

  • autonomic, psychic or sensory
  • 40% automatisms

neuroimaging: hippocampal atrophy, neoplasms, vascular, normal

prognosis: control in 70%

84
Q

Topiramate

A

use: adjuvant poor control, migraines

use: blocks voltage dep Na channels, augments GABA

side effects: metabolic acidosis, nephrolithiasis (calcium phosphate stones), weight loss, cognitive dysfunction

CYP450 inducer: increased metabolism sodium valproate

85
Q

Vigabatrin

A

use: infantile spasm

mechanism: increase GABA

rare: worsens GTC/absence/myoclonic, weight gain, visual field loss, psychosis, retinopathy

pharmacology: renal excretion

NO CYP450 effect

86
Q

Landau Kleffner Syndrome

A

definition: acquired epileptic aphasia

incidence: 2-8yo

clinical: regression in language, associated seizures/behaviour disturbances

EEG: continuous status epilepticus of sleep

treatment: difficult

87
Q

Tics

A

prevalence: 4-24%, M>F, onset 6-7 yrs, peak 13 yrs

pathogenesis: dopamine dysfunction basal ganglia

clinical: stereotyped, brief, repetitive, sudden motor or vocal head and upper body

prognosis: 50% resolve 18yrs

treatment: clonidine if QOL affected

88
Q

RAPD

A

definition: pupils respond differently to light stimulus

pathogenesis: afferent pupillary defect

causes:

optic nerve disorders: neuritis, ischaemic, glaucoma, tumours, inflammation

orbital disease: compressive damage to nerve

MOST COMMON CAUSE IN CHILDREN: OPTIC GLIOMA

89
Q
A

FRACP Exam (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions