Neurology

Question 1

Hz voltages for
1. Lennox Gastaut
2. Childhood absence epilepsy
3. Juvenile myoclonic epilepsy

Answer 1

1. 1.5-2.5 Hz slow spike and wave
2. 3 Hz spike and wave
3. 4-6 Hz fast spike and wave

Question 2

Infantile spasms
1. Causes
2. Timing
3. Management

Answer 2

1. Cerebral dysgenesis, genetic/metabolic (tuberous sclerosis, PKU, T21), HI
2. Present at 3-7 months, often in transition from sleep to wakefulness
3. ACTH, steroids, vigabatrin (first line for TS, otherwise second line)

Question 3

Juvenile myoclonic epilepsy

Answer 3

Morning myoclonic jerks (shock like, dropping objects), GTCs can occur just after waking or during sleep, may have hx of absence sz
8-20 years onset
Triggered by photic stimulation
VPA > keppra, lamotrigine

Question 4

Benign Rolandic epilepsy

Answer 4

Also called benign childhood epilepsy with centrotemporal spikes
3-10 years
Focal hemifacial twitching or extremity seizures, can have hypersalivation and dysarthria
Around transition from sleep/wake, can get nighttime GTCs
Most will outgrow by puberty
Does not always need treatment, can give keppra

Question 5

Serious side effects of
1. Lamotrigine
2. Topiramate
3. Carbamazepine
4. VPA

Answer 5

1. SJS, liver toxicity
2. renal stones
3. SJS, agranulocytosis, aplastic anemia, liver toxicity
4. liver and pancreatic toxicity, thrombocytopenia, hyperammonemia

Question 6

Rett syndrome

Answer 6

X-linked, MECP2 gene
Development stagnation then regression, acquired microcephaly, hand sterotypes, ataxia, sighing respirations, autism like behaviours, seizures
Increased risk of sudden cardiac death due to arrhythmia

Question 7

Angelman syndrome

Answer 7

Maternally inherited deletion of 15q11.2-q13
Developmental delay, speech impairment, ataxia, microcephaly, seizures, happy demeanour

Question 8

Cornelia de Lange syndrome

Answer 8

Coarse facies, microcephaly, upper limb defects, dev delays, autistic tendencies

Question 9

Guillain Barre syndrome

Answer 9

Immune response to myelin
Campylobacter infection most common cause
Acute ascending paralysis, intact sensation, DTRs are absent, normal Babinski, autonomic instability, bladder function typically normal
LP shows elevated protein, low WBC
PLEX and IVIG can improve recovery time

Question 10

Migraine criteria

Answer 10

5 headaches
Lasting 2-72 hours (untreated or unsuccessfully treated)
2 of: unilateral (can be bilateral in kids), pulsating, moderate to severe, worse by/causes avoidance of routine activity
1 of: nausea or vomiting, photophobia AND phonophobia

Question 11

Red flags for migraine

Answer 11

Daily or near daily early morning vomiting
Headaches waking child up from sleep
Focal findings
Atypical auras (basilar, hemiplegic)
Headache in children < 6 years old (cannot describe HA)
No family history of migraine
Thunderclap onset

Question 12

When to use prophylaxis for migraine, what to use

Answer 12

If > 1 migraine per week or disabling
Goal is to reduce frequency and level of disability
Flunarizine (CCB), amitriptyline, AEDs, propranolol, cyproheptadine
Give for 4-6 months then wean

Question 13

Myotonic dystrophy
1. Genetics
2. Manifestations
3. Diagnosis

Answer 13

1. AD inheritance from mom, CTG trinucleotide expansion on chromosome 19
2. Inverted upper lip, thin cheeks, wasting of distal > proximal muscles, normal DTRs, grip myotonia
3. DNA analysis

Question 14

Main teratogenic effects of
1. Carbamazepine
2. Lithium
3. SSRI
4. VPA

Answer 14

1. NTDs
2. Ebstein anomaly
3. PPHN
4. Spina bifida

Question 15

Simple vs complex febrile sz

Answer 15

Simple: < 15 mins, non focal, no recurrence, dev normal
Complex: > 15 mins, focal findings, recurs within 24 hours, dev delay, status

Question 16

Which febrile sz children to LP

Answer 16

Meningeal signs or symptoms, ill appearing
< 6 months with fever and seizure
6-12 mo with unknown immunization or incomplete for Hib or strep pneumo
Children on abx (masks meningitis signs)

Question 17

Which children are at risk for recurrent febrile seizures

Answer 17

First seizure < 12 months old
First degree relative with febrile seizures
Seizure with fever < 40 degrees
Seizure after short duration of fever (<24h)
Lower Na at time of presentation

Question 18

Rate of recurrence for
1. A child with febrile sz
2. A child with febrile sz < 1 year old, family history, or 2+ seizures

Answer 18

1. 30%
2. 50-60%

Question 19

Dravet syndrome

Answer 19

Starts as febrile seizures in first year of life
Then develops multiple seizure types and developmental delay
Mutations in SCN1 gene are most common cause

Question 20

Acute dystonic reactions

Answer 20

Typically involve face and neck
Torticollis, retrocollis, oculogyric crisis, tongue protrusion
Tx: IV diphenhydramine, benztropine

Question 21

Botulism
1. Mechanism
2. Symptoms
3. Diagnosis
4. Treatment

Answer 21

1. Effects of Clostridium botulinum toxin - affects presynaptic release of ACh, causes total paralysis
2. Constipation, descending paralysis, resp insuff, lack of pupillary response is late finding
3. Stool culture and toxin assay
4. Botulism anti-toxin

Question 22

4 conditions where AEDs cannot be weaned

Answer 22

Juvenile myoclonic epilepsy
Progressive myoclonic epilepsy
Atypical absence seizures
Lennox-Gastaut syndrome

Question 23

Conversion vs somatic disorder

Answer 23

Conversion: not bothered by symptoms, some sort of benefit to the patient
Somatic: symptoms are distressing, lots of anxiety related

Question 24

BRUE definition

Answer 24

< 1 minute
Returned to baseline, normal appearance and vitals
Not explained by medical condition
ABCT: appearance, breathing, consciousness, tone

Question 25

Low risk BRUE criteria

Answer 25

> 60 days GA 32+ weeks, PGA 45+ weeks First BRUE < 1 min No CPR by trained provider No concerning history or physical findings

Question 26

Management for low risk BRUE

Answer 26

Education, shared decision making, follow up Offer CPR training Could do ECG or pertussis swab (unimmunized, high risk region) Could monitor with pulse ox and repeat exams

Question 27

Management for high risk BRUE

Answer 27

In ED: Continuous pulse ox for 4 hours Social worker to screen for abuse/family factors Feeding evaluation Investigations: ECG, resp panel, pertussis, CBC, glucose, bicarb, gas, lactate Consider NAI investigations If still no explanation admit to hospital, can discharge after 24 hours if work up normal and no repeat events

Question 28

Myoclonic astatic epilepsy

Answer 28

Primary generalized Children 1-5 years GTC and then drop seizures Can get executive function problems once sz start 1/3 develop Lennox Gastaut

Question 29

SMA 1. Genetics 2. Presentation 3. Diagnosis 4. Management

Answer 29

1. AR, deletion in SMN1 gene, results in degeneration of anterior horn cells 2. Hypotonia, frog legged position, proximal > distal, absent DTRs, tongue fasciculations 3. Genetic screening (CK normal or mildly elevated, NCS normal) 4. Nusinersin

Question 30

Friedrich ataxia

Answer 30

AR, lack of frataxin, caused degradation of nerve and heart cells Hypoactive/absent DTRs, ataxia, positive babinski, HOCM

Question 31

Duchenne muscular dystrophy 1. Genetics 2. Presentation 3. Diagnosis 4. Management

Answer 31

1. X linked recessive, absent or deficient dystrophin protein 2. Progressive weakness, toe walking, calf hypertrophy, Gowers +, slow loss of DTRs, cardiomyopathy, ID 3. Elevated CK, genetics 4. Steroids can delay wheelchair use Becker is similar but less severe and later onset

Question 32

Nemaline rod myopathy

Answer 32

Abnormal rod shaped structures within muscle fibers, ACTA1 mutation Muscle weakness of bulbar and respiratory muscles, thin mass, dolicocephalic head, high arched palate, myotonic facies but not in mothers Muscle biopsy is diagnostic

Question 33

Bowel and bladder sx in GBS vs transverse myelitis

Answer 33

TM: present at onset GBS: symptoms develop later

Question 34

Anti-NMDA receptor encephalitis

Answer 34

IgG target NMDA receptor May have viral prodrome Psychiatric manifestations, decreased LOC, seizures, limb or oral dyskinesias, choeroathetoid movements, autonomic instability NMDAR abs in CSF and serum diagnostic Has been linked to HSV1 Steroids, IVIG, plasmapheresis, rituximab, remove tumor (teratoma) if present

Question 35

Treatment for myasthenia gravis

Answer 35

Pyridostigmine Immunosuppression Thymectomy PLEX or IVIG for acute worsening Transient neonatal will resolve in 2-6 weeks

Question 36

Childhood absence epilepsy 1. Presentation 2. EEG 3. Treatment

Answer 36

1. Children 4-6 years, staring episodes, automatisms, no post ictal phase 2. 3 Hz spike and wave discharge, hyperventilation will provoke 3. Ethosuximide > VPA or lamotrigine