Neurology Flashcards
Hz voltages for
1. Lennox Gastaut
2. Childhood absence epilepsy
3. Juvenile myoclonic epilepsy
- 1.5-2.5 Hz slow spike and wave
- 3 Hz spike and wave
- 4-6 Hz fast spike and wave
Infantile spasms
1. Causes
2. Timing
3. Management
- Cerebral dysgenesis, genetic/metabolic (tuberous sclerosis, PKU, T21), HI
- Present at 3-7 months, often in transition from sleep to wakefulness
- ACTH, steroids, vigabatrin (first line for TS, otherwise second line)
Juvenile myoclonic epilepsy
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
Benign Rolandic epilepsy
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
Serious side effects of
1. Lamotrigine
2. Topiramate
3. Carbamazepine
4. VPA
- SJS, liver toxicity
- renal stones
- SJS, agranulocytosis, aplastic anemia, liver toxicity
- liver and pancreatic toxicity, thrombocytopenia, hyperammonemia
Rett syndrome
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
Angelman syndrome
Maternally inherited deletion of 15q11.2-q13
Developmental delay, speech impairment, ataxia, microcephaly, seizures, happy demeanour
Cornelia de Lange syndrome
Coarse facies, microcephaly, upper limb defects, dev delays, autistic tendencies
Guillain Barre syndrome
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
Migraine criteria
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
Red flags for migraine
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
When to use prophylaxis for migraine, what to use
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
Myotonic dystrophy
1. Genetics
2. Manifestations
3. Diagnosis
- AD inheritance from mom, CTG trinucleotide expansion on chromosome 19
- Inverted upper lip, thin cheeks, wasting of distal > proximal muscles, normal DTRs, grip myotonia
- DNA analysis
Main teratogenic effects of
1. Carbamazepine
2. Lithium
3. SSRI
4. VPA
- NTDs
- Ebstein anomaly
- PPHN
- Spina bifida
Simple vs complex febrile sz
Simple: < 15 mins, non focal, no recurrence, dev normal
Complex: > 15 mins, focal findings, recurs within 24 hours, dev delay, status
Which febrile sz children to LP
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)
Which children are at risk for recurrent febrile seizures
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
Rate of recurrence for
1. A child with febrile sz
2. A child with febrile sz < 1 year old, family history, or 2+ seizures
- 30%
- 50-60%
Dravet syndrome
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
Acute dystonic reactions
Typically involve face and neck
Torticollis, retrocollis, oculogyric crisis, tongue protrusion
Tx: IV diphenhydramine, benztropine
Botulism
1. Mechanism
2. Symptoms
3. Diagnosis
4. Treatment
- Effects of Clostridium botulinum toxin - affects presynaptic release of ACh, causes total paralysis
- Constipation, descending paralysis, resp insuff, lack of pupillary response is late finding
- Stool culture and toxin assay
- Botulism anti-toxin
4 conditions where AEDs cannot be weaned
Juvenile myoclonic epilepsy
Progressive myoclonic epilepsy
Atypical absence seizures
Lennox-Gastaut syndrome
Conversion vs somatic disorder
Conversion: not bothered by symptoms, some sort of benefit to the patient
Somatic: symptoms are distressing, lots of anxiety related
BRUE definition
< 1 minute
Returned to baseline, normal appearance and vitals
Not explained by medical condition
ABCT: appearance, breathing, consciousness, tone
Low risk BRUE criteria
> 60 days
GA 32+ weeks, PGA 45+ weeks
First BRUE
< 1 min
No CPR by trained provider
No concerning history or physical findings
Management for low risk BRUE
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
Management for high risk BRUE
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
Myoclonic astatic epilepsy
Primary generalized
Children 1-5 years
GTC and then drop seizures
Can get executive function problems once sz start
1/3 develop Lennox Gastaut
SMA
1. Genetics
2. Presentation
3. Diagnosis
4. Management
- AR, deletion in SMN1 gene, results in degeneration of anterior horn cells
- Hypotonia, frog legged position, proximal > distal, absent DTRs, tongue fasciculations
- Genetic screening (CK normal or mildly elevated, NCS normal)
- Nusinersin
Friedrich ataxia
AR, lack of frataxin, caused degradation of nerve and heart cells
Hypoactive/absent DTRs, ataxia, positive babinski, HOCM
Duchenne muscular dystrophy
1. Genetics
2. Presentation
3. Diagnosis
4. Management
- X linked recessive, absent or deficient dystrophin protein
- Progressive weakness, toe walking, calf hypertrophy, Gowers +, slow loss of DTRs, cardiomyopathy, ID
- Elevated CK, genetics
- Steroids can delay wheelchair use
Becker is similar but less severe and later onset
Nemaline rod myopathy
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
Bowel and bladder sx in GBS vs transverse myelitis
TM: present at onset
GBS: symptoms develop later
Anti-NMDA receptor encephalitis
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
Treatment for myasthenia gravis
Pyridostigmine
Immunosuppression
Thymectomy
PLEX or IVIG for acute worsening
Transient neonatal will resolve in 2-6 weeks
Childhood absence epilepsy
1. Presentation
2. EEG
3. Treatment
- Children 4-6 years, staring episodes, automatisms, no post ictal phase
- 3 Hz spike and wave discharge, hyperventilation will provoke
- Ethosuximide > VPA or lamotrigine
