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FRCPC > Neurology > Flashcards

Neurology Flashcards

1
Q

What percentage of patients with first unprovoked seizure have another seizure?

A

40%

80%-if 2 unprovoked seizures

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2
Q

In what age group are febrile seizures most common?

A

6 months to 60 months

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3
Q

What is the definition of a simple febrile seizure?

A 
No focality
<15 minutes
Not recurrent in 24 hours
Normal development 
Normal exam
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4
Q

What is the risk of developing epilepsy with febrile seizure?

A

2%

2X baseline risk if simple FS (0.5-1% doubles to 1-2%)

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5
Q

What is the likelihood of having another febrile seizure after the first one?

A

Overall 30%
BUT varies by age!

<1 year-50%
>1 year-20%

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6
Q

List 3 risk factors for recurrence of febrile seizures

A 
Age <1 year
Short duration of fever before seizure< 24 hr
Low Fever 38-39
Family history of febrile seizures in 1st degree relative
Young age at onset
Male
Attendance at daycare
Complex febrile seizure
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7
Q

List 3 epilepsy syndromes that can be present with febrile seizures

A

Generalized epilepsy with febrile seizures
Severe myoclonic epilepsy of infancy (Dravet)
Temporal lobe epilepsy

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8
Q

When should you LP for febrile seizure?

A

<6 months for sure, some would say also <12 months

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9
Q

Components of counseling for febrile seizure

A

1) Reassurance
2) Seizure safety
3) Risk of recurrence/epilpesy
4) Anti-pyretics don’t reduce risk of FS

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10
Q

List 4 indications for MRI in first presentation seizure

A 
Developmental delay
Abnormalities on exam
Focal seizures
EEG abnormalities
Age < 1 year
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11
Q

Describe the semiology of benign rolandic epilepsy

A 
Facial movement common
Facial numbness
Twitching
Guttural vocalizations
Drooling
Dysphasia and speech arrest
UE >LE movements more common
Most happen at night or on awakening
,
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12
Q

What is the age of onset of benign rolandic epilepsy?

A

Age of onset 3-13 years
Peak incidence between 7-9 years
Resolves by adolescence

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13
Q

What is the characteristic EEG finding in

A

Broad-based centrotemporal spikes increased in frequency during drowsiness and sleep

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14
Q

Describe the semiology of benign epilepsy with occipital spikes (Panayiotopoulos)

A

Autonomic features
Vomiting
Syncope-like seizures, with sudden loss of muscle tone and unresponsiveness, pallor, miosis, incontinence, coughing, and hypersalivation
USUALLY AT NIGHT

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15
Q

What is the prognosis of Benign epilepsy with occipital spikes ?

A

Spontaneous remission usually occurs within 2-3 years from onset

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16
Q

Which epilepsy syndrome is often preceded by febrile seizures where patients have atrophy and gliosis of hippocampus/amygdala?

A

Temporal lobe epilepsy

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17
Q

What is the most common cause of surgically remediable epilepsy?

A

Temporal lobe epilepsy

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18
Q

What is the classic EEG finding in Landau Kleffner?

A

Electrical status epilepticus during sleep->85% of non-REM sleep

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19
Q

List 3 clinical features of Landau Kleffner

A

Loss in language function beginning age 3-6

Auditory verbal agnosia (behave as if they are deaf)

Expressive language deficits

Personality disorders

Hyperkinetic behaviour

Preservation of overall cognitive function

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20
Q

List 3 clinical features of Rasmussen encephalitis

A

Unilateral intractable partial seizures

Epilepsia partialis continua

Progressive hemiparesis of the affected side

Progressive atrophy of the contralateral hemisphere

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21
Q

What is the typical age of onset of absence seizures?

A

5-8 years of age

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22
Q

Describe the semiology of absence seizures

A

No aura
Last for only a few seconds
Flutter or upward rolling of the eyes
Simple automatisms like lip-smacking or picking at clothing

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23
Q

What is the classic EEG finding in absence seizures?

A

3 Hz spike–and–slow wave discharges

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24
Q

What is the prognosis of absence seizures?

A

Most outgrow by adulthood

Small group will develop JME

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25
Q

Describe the clinical features of benign myoclonic epilepsy of infancy

A

Onset of myoclonic and other seizures during the 1st yr of life

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26
Q

What is the age of onset of juvenile myoclonic epilepsy?

A

Starts in early adolescence (average 15 years)

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27
Q

What are the 3 seizures types seen in juvenile myoclonic epilepsy?

A

Myoclonus (usually early morning, first sign)
GTC
Juvenile absence

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28
Q

List 3 triggers for seizures in juvenile myoclonic epilepsy?

A

Sleep deprivation
Alcohol
Photic sitmulation
Gognitive acitvites

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29
Q

What is the characteristic EEG finding in juvenile myoclonic epilepsy?

A

Generalized 4-5 Hz polyspike–and–slow wave discharges

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30
Q

What is the prognosis of juvenile myoclonic epilepsy?

A

Life long AEDs

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31
Q

List 2 treatment options for juvenile myoclonic epilepsy

A

Valproate
Lamotrigine
(Similar to absence seizure tx)

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32
Q

At what age and how does Dravet syndrome typically present?

A

Begins with focal febrile status epilepticus in 1st year of life (6 months)

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33
Q

List 2 clinical features of Dravet syndrome

A

1) Refractory epilepsy-often requires KD or vagal nerve stimulation
2) Neurodevelopmental problems beginning in infancy

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34
Q

Describe the semiology of infantile spasms

A

Spasms of neck, trunk, and extremities

Followed by a tonic phase ~10 seconds

Usually symmetric, often occur in clusters, particularly in drowsiness or upon arousal

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35
Q

How do you differentiate benign myoclonus of infancy (different from benign myoclonic epilepsy of infancy!) from IS?

A

Only when asleep
Normal EEG
Normal development

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36
Q

What is the age of onset and resolution of benign myoclonus of infancy?

A

3-8 months of age

Increase in intensity and severity over weeks or months and then remit spontaneously at 2-3 years of age

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37
Q

When is the typical age of presentation of infantile spasms?

A

Present between 3-7 months of age; onset after 18 months is rare

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38
Q

When do infantile spasms typically resolve?

A

Age 3-4 years

But usually other seizure types emerge….

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39
Q

What is the characteristic EEG finding in infantile spasms?

A

Hypsarrhythmia (high-voltage, slow, chaotic background with multifocal spikes)

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40
Q

List 5 conditions associated with infantile spasms

A 
Tuberous sclerosis (10%)
Cortical dysplasias
Miller-Dieker syndrome
Aicardi syndrome
Hemimegancephaly
Chromosome abnormalities
NF1
IEM
Congenital infections
Perinatal insults
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41
Q

What is west syndrme?

A

Infantile spasms with DEVELOPMENTAL REGRESSION

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42
Q

What epilepsy syndromes typically evolve into Lennox Gastaut?

A

Many patients start Ohtahara→ West syndrome →Lennox-Gastaut

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43
Q

What is the typical age of patients with Lennox Gastaut?

A

Age of 2 – 10

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44
Q

What is the semiology of Lennox Gastaut?

A

Multiple seizure types:atypical absences, myoclonic, astatic, and tonic seizures

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45
Q

Does Lennox Gastaut lead to developmental delay?

A

YES

Poor outcome

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46
Q

List 5 epilepsy syndromes of infancy

A

1) Benign familial infantile epilepsy
2) Benign focal epilepsies in infancy
3) Genetic epilepsy with febrile seizures plus
4) Myoclonic epilepsy of infancy
- Dravet syndrome
5) Infantile spasms
6) Benign idiopathic neonatal seizures

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47
Q

What is the typical clinical presentation of benign idiopathic neonatal seizures?

A

Usually apneic and unifocal clonic seizures that start around the fifth day of life (unlike GTC in benign familial neonatal seizures)

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48
Q

What is the characteristic EEG finding in benign idiopathic neonatal seizures?

A

Interictal EEG shows a distinctive pattern called theta pointu alternant (runs sharp 4-7 Hz activity)
Ictal EEG shows multifocal electrographic seizures

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49
Q

When do benign idiopathic neonatal seizures usually resolve?

A

By 6 weeks

Good prognosis!

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50
Q

What is the characteristic EEG finding in benign familial neonatal seizures?

A

Interictal EEG is normal

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51
Q

How are benign familial neonatal seizures inherited?

A

Autosomal dominant

Mutations in KCNQ2 and KCNQ3 genes

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52
Q

What are the important components of seizure education?

A

Supervised swimming
Helmet
Driving
Seizure safety

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53
Q

What AEDs can you use for absence seizures?

A

Ethosuximide, valproate, lamotrigine

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54
Q

What AEDs can you use for focal seizures?

A

Carbamazepine, keppra, topiramate

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55
Q

What AEDs can you use for generalized seizures in children >2 years of age?

A

Valproate, keppra, topiramate

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56
Q

What AEDs can you use for JME?

A

Valproate, lamotrigine

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57
Q

What AEDs can you use for infantile spasms?

A

Vigabatrin

ACTH

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58
Q

When should you NOT use valproate?

A

If metabolic disorder has not been ruled out

<2 years of age

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59
Q

When should you NOT use carbamezipine or phenytoin?

A

Absence or myoclonic

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60
Q

In general, after how many years of being seizure free should AEDs be discontinued?

A

2 years

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61
Q

Side effects of valproic acid

A 
Transaminitis
Pancreatitis
Thrombocytopenia
Weight gain
Hair loss
Tremor
PCOS
Teratogenic
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62
Q

Side effects of phenytoin

A 
Gingival hyperplasia
Hirsutism
Decreased bone mineral density
SJS
Folic acid depletion
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63
Q

Side effects of keppra

A

Behavioural disturbance

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64
Q

Side effects of lamotrigine

A

SJS

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65
Q

Side effects of vigabatrin

A

Retinal toxicity

Concentric visual loss

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66
Q

Side effects of topamax

A

Kidney stones
Cognitive slowing
Weight loss

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67
Q

Side effects of ethosuximide

A

Agranulocytosis

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68
Q

List 10 differentials for seizures

A 
Apnea
Breath holding spells
Hyperekplexia 
Compulsive Valsalva 
Vasovagal syncope
Orthostatic hypotension
Familial hemiplegic migraine
BPPV
Cyclic vomiting syndrome
Stereotypies/tics
Panic/anxiety attacks
Long QT
Alice in Wonderland syndrome
Migraines-confusional
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69
Q

List 10 differentials for seizures

A 
Apnea
Breath holding spells
Hyperekplexia 
Compulsive Valsalva 
Vasovagal syncope
Orthostatic hypotension
Familial hemiplegic migraine
BPPV
Cyclic vomiting syndrome
Stereotypies/tics
Panic/anxiety attacks
Long QT
Alice in Wonderland syndrome
Migraines-confusional
Psychogenic non-epileptiform seizures
Masturbation/self stimulating behaviour
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70
Q

What is the typical age of presentation of breatholding spells?

A

6 and 18 mo of age

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71
Q

What clinical clues suggest a diagnosis of breatholding spells?

A

Provoked with injury, anger, and frustration, particularly with surprise

Starts with cry, then apnea, cyanosis–>can lead to syncope or anoxic seizure

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72
Q

List 3 steps in management of breatholding spells

A

Reassure parents-outgrow within a few years, almost all by 8 years

Parent CPR

Consistent discipline, do not positively reinforce, give child warning before trigger onset as surprise makes worse

Preparation rather than surprising

Iron supplementation if iron deficient

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73
Q

What is the main reason diazepam is not used as an anticonvulsant in neonates?

A

Neonates have decreased liver metabolism of diazepam

Can accumulate with repeated use and cause increased toxicity

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74
Q

What is the clinical signs of infantile masturbation?

A

May occur in girls 2-3 yr of age

Perspiration, irregular breathing, and grunting, but no loss of consciousness

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75
Q

What sutures are fused in scaphocephaly?

A

Sagittal suture

No hydrocephalus!

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76
Q

What sutures are fused in plagiocephaly?

A

Unilateral coronal or lambdoidal synostosis

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77
Q

What sutures are fused in trigonocephaly?

A

Metopic suture

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78
Q

What sutures are fused in kleeblattschädel?

A

Multiple sutures fuse prematurely

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79
Q

What sutures are fused in acrocephaly?

A

Sagittal, coronal, and lambdoid synostosis

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80
Q

Name 2 complications of craniosynostosis

A 
Raised ICP (if two or more sutures are fused)
Cognitive/neurdovelopment deficits due to inhibition of brain growth
Poor self esteem and social isolation due to the abnormal appearance
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81
Q

When is the optimal timing of craniosynostosis surgery?

A

8 to 12 months of age

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82
Q

List 4 physical exam findings that would be contraindications to a LP

A

Cushing triad

Absence of reactive pupils, Loss of brainstem reflexes, decorticate/decerebrate posturing

Infection at site of LP

Myelomeningocole

Petechial Rash

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83
Q

List 4 contraindications to LP

A

Suspected mass lesion of the brain causing shift of the midline

Suspected mass lesion of the spinal cord

Symptoms and signs of impending cerebral herniation

Critical illness (on rare occasions)

Skin infection at the site

Thrombocytopenia with a platelet count <20 × 109/L

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84
Q

What patients are at highest risk for chronic valproic acid toxicity?

A 
<2 years old
Organic brain disease
Developmental delay of unknown etiology
Metabolic disorders
Multiple AEDs
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85
Q

List 4 clinical features of acute valproic acid toxicity

A

Vital signs – Respiratory depression, hypotension, tachycardia, hyperthermia

Metabolic – Hyperammonemia, anion gap metabolic acidosis, hyperosmolality, hypernatremia, hypocalcemia

Gastrointestinal – Nausea, vomiting, diarrhea, mild toxic hepatitis

CNS Mild-moderate lethargy, coma, cerebral edema

Miosis, agitation, tremors, myoclonus

Rare – fever, heart block, pancreatitis, ARF, pancytopenia, seizures, ARDS

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86
Q

List 4 clinical features of chronic VPA toxicity

A 
Hepatic failure
Hyperammonemia
Pancreatitis
Alopecia
Leukopenia
Thrombocytopenia
Anemia
Cerebral edema
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87
Q

What 4 investigations would you order in suspected chronic VPA toxicity?

A
  1. VPA level (therapeutic serum 50 to 100 mg/L (350 to 700 µmol/L) )
  2. Ammonia (hepatotoxicity does not always occur with hyperammonenmia)
  3. Liver function, AST, ALT, lipase, amylase
  4. CBC
  5. Carnitine level
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88
Q

What are the most common types of headaches in children?

A

1) Migraine

2) Tension

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89
Q

List 3 characteristics of tension headaches

A

Mild to moderate in severity

Diffuse

Not affected by activity

Nonthrobbing (often described as a constant pressure)

Duration 30 min to 7 days

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90
Q

What is the best pharmacologic management of tension headaches?

A

Ibuprofen > acetaminophen

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91
Q

How much analgesic use does it require to develop medication overuse headaches?

A

Patient taking analgesics >15days /month for >3months

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92
Q

How do you treat medication overuse headaches?

A

Withdraw slowly, can give steroids as transition for abrupt withdrawl

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93
Q

Definition of idiopathic intracranial hypertension

A

Inc ICP with normal head imaging

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94
Q

List 4 risk factors for idiopathic intracranial hypertension

A 
Obesity
Female
Systemic disease (SLE, hypo/hyperthyroidism)
Rapid changes in weight
OCP
Tetracycline
TCAs
Growth Hormone
Accutane/Retinoids
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95
Q

What complication can result from untreated idiopathic intracranial hypertension?

A

Permanent visual field loss

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96
Q

What is the treatment of idiopathic intracranial hypertension?

A

Acetazolomide
Weight loss
Cessation of triggering med

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97
Q

List the ILAR diagnostic criteria of migraines

A

Diagnosis requires:

  • 5 attacks
  • 4-72 hours each

2 of:

  • Moderate to severe in intensity
  • Unilateral (although commonly B/L in children)
  • Pulsating
  • Worse with activity

1 of:

  • Nausea OR Vomiting
  • Photophobia ANDphonophobia

NOT ATTRIBUTABLE TO ANOTHER DISORDER

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98
Q

What conditions on family history are often associated with migraines?

A

Migraines
Cyclic vomiting
Motion sickness
Menstrual headaches

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99
Q

List 5 triggers for migraines

A

Poor sleep

Dehydration

Weather changes

Food no longer considered a common trigger

Menses

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100
Q

List 3 types of migraine auras

A

Visual (most common)
-photopsia (flashes of light)

Sensory

  • Bugs crawling
  • Numbness

Dysphasic
-Difficulty or inability to verbally respond

Hemiplegic

Basilar

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101
Q

List 3 clinical features of confusional migraines

A

Agitation, disorientation, aphasia

Eventually turn into typical migraines

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102
Q

List 3 clinical features of abdominal migraine

A

Dull pain, moderate to severe, from 1h – 72h, usually midline

Must have at least 2 of →anorexia, nausea, vomiting, or pallor

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103
Q

Describe Alice in Wonderland Syndrome

A

Visual hallucinations

Perceptual distortions

Impairment of time sense

Child isn’t scared and can describe the experience

Perceptual disturbance lasts days to months, recover spontaneously

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104
Q

Indications for migraine prophylaxis

A

Headache is frequent (≥1/week)

Affecting school/life

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105
Q

List 3 options for abortive treatment of migraines

A

Fluids/hydration

NSAIDs (should not use more than 2-3x/week)

Triptans (>12 years)

Antiemetics (prochlorperazine, metoclopramide) -on top of NSAID/triptan

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106
Q

List 3 options for prophylaxis of migraines

A 
Riboflavin/Mg/CoQ10
CCBs
Amitriptyline
VPA
Topiramate
Gabapentin
Propranolol
Prochlorperazine
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107
Q

Which migraine prophylaxis to avoid in asthma

A

Propanolol

108
Q

List 5 features of basilar migraine

A

Vertigo, tinnitus, diplopia, blurry vision, scotoma, ataxia, occipital h/a

109
Q

List 4 migraine variant conditions

A

Paroxysmal vertigo
Cyclic vomiting syndrome
Abdominal migraine

Others:
Alice in Wonderland syndrome
Retinal migraine
Basilar migraine-NO TRIPTANS

110
Q

List 5 hyperkinetic movement disorders in childhood

A 
Stereotypies
Tics
Chorea
Ballism
Dystonia
Athetosis
Tremor
Myoclonus
111
Q

Differential diagnosis for ataxia

A

Acute cerebellar ataxia

Guillain Barre

Labyrninthitis

Migraine syndromes (e.g. basilar)

Post traumatic

Tumours

ICH

Stroke

ADEM

Encephalitis/abscess

Conversion disorder

Congenital malformatoins of posterior fossa (e.g. Dandy walker, joubert, chiari)

Metabolic disorders ( Abetalipoproteinemia, arginosuccinicaciduria, Hartnup disease)

Degenerative (e.g. AT, friedrich ataxia, spinocerebellar ataxia)

112
Q

List 5 clinical features of ataxia telengeactasia

A

Ataxia (usually begins at age 2)

Visual disturbance (saccade pursuit, strabismus, nystagmus, oculomotor apraxia of horizontal gaze)

Telangiectasiaes (mid chilhood)

Immunodeficiency (low IgA, IgG, IgE)

Increased risk of malignancy (leukemia, lymphoma, brain tumours)

113
Q

How is ataxia telangiectasie inherited?

114
Q

List 3 clinical features of Friedrich ataxia

A

Ataxia (after AT, but before 10 years)
Explosive dysarthric speech
Skeletal abnormalities (pes cavus, hammertoes, kyphoscoliosis)
Hypertrophic cardiomyopathy

115
Q

What medications are recommended in Friedrich ataxia

A

Antioxidant therapy with coenzyme Q10 and vitamin E

116
Q

What is the difference between chorea and athetosis?

A

Chorea-rapid, chaotic movements flowing from one body part to another
Athetosis-slow, continuous, writhing movements that repeatedly involve the same body part(s)

117
Q

List 3 clinical features in keeping with chorea

A

Motor impersistence, with difficulty keeping the tongue protruded (“darting tongue”) or maintaining grip (“milkmaid grip)

Occurs at rest and with action

Increases with stress

Disappears in sleep

118
Q

Differential diagnosis of chorea

A

1) Genetic
- Huntington Disease
- Ataxia Telangiectasia
- Wilson
- Benign Hereditary Chorea
- Spinocerebellar Ataxia

2) Basal-Ganglia Lesions
- Tumours
- MS plaques
- Stroke lesions

3) Para-Infections/Autoimmune
- Sydenham chorea
- SLE
- Antiphospholipid Antibody Syndrome
- Post-infectious/Post-vaccine
- Paraneoplastic
- Chorea Gravidarum (pregnancy)

4) Infectious
- HIV
- Viral (Measles, Mumps, Varicella)
- Toxoplasmosis
- Endocarditis
- Neurosyphilis
- Lyme

5) Toxic/Metabolic
- Porphyria
- Hypo/hypernatremia, Hypocalcemia
- Hyperthyroid, Hypoparathyroid
- Liver/Renal failure
- Poisoning → CO, Mercury, Manganese, Organophosphate

6) Drugs
- Dopamine-drugs
- Antiepileptics, Psych meds
- Calcium channel blockers
- Lithium
- Steroids
- OCPs

119
Q

List 3 clinical characteristics of Sydenham chorea

A

Chorea
Hypotonia
Emotional lability

120
Q

How long after GAS does sydenham chorea typically present?

A

Occurs 1-8mo after GAS infection

121
Q

What is the prognosis of sydenham chorea?

A

Usually spontaneously resolves in 6-9mo, but can persist

122
Q

Differential for tremor

A

Essential tremor

Drugs-valproate, lithium, TCAs

Metabolic-hyperthyroidism, hypoglycemia, hypocalcemia

Peripheral neuropathy

Degenerative disease-Wilsons, huntington, fragile X premutation

Structural-stroke, cerebellar malforamtion, MS

Psychogenic

123
Q

List 4 causes of dystonia

A

1) Primary Generalized Dystonia
E.g. Dopa-responsive dystonia → hallmark is diurnal variation

2) Drug-Induced Dystonia
- Antipsychotics and antiemetics that block dopamine

3) Cerebral Palsy-dyskinetic form

4) Metabolic Disorders
- e.g. Wilsons, glutaric aciduria, leigh syndrome, , niemann Pick Type C

124
Q

How do you treat acute dystonic reaction?

A

IV Benadryl

IV Benzotropine

125
Q

How long do you need to be on a medication to get tardive dyskinesia?

A

After at least 3 months of med use and may not resolve after med is discontinued

126
Q

In what type of patients is dyskinetic CP more common?

A

Term with perinatal asyphyxia?

127
Q

What is the prognosis of • benign paroxysmal torticollis of infancy (recurrent episodes of cervical dystonia starting at 1 y.o.)

A

Resolves by 3 y.o.

128
Q

List 2 things that make tics worse and 2 things that make tics better

A

Worse:
Stress
Stimulant meds

Better:
Sleep
Relaxation
Concentration

129
Q

List 3 methods to manage tics

A

Ignore
CBT

Meds only if the tics cause significant distress or impairment in functioning
(Clonidine, Guanfacine, Haldol, pimozide, SSRI if comorbid OCD/anxiety)

130
Q

List the DSM V criteria for Tourettes

A
  • 2 or more motor tics and at least 1 vocal tic
  • Tics for at least a year
  • The tics can occur many times a day (usually in bouts) nearly every day
  • Begin before 18 years of age.
  • Not consistent with another medical condition
131
Q

Name 2 conditions associated with Tourette’s

A

OCD
ADHD
ODD

132
Q

What pharmacologic treatment is recommended for Tourette’s?

A

Risperidone

133
Q

What is PANDAS?

A

Neuropsychiatric disorders (OCD, tics, and Tourettes) for which a possible relationship with GAS infections has been suggested

134
Q

List 3 things that support diagnosis of Tourettes in a child with tics?

A

Male (4:1)
Family history of tics
ADHD, OCD

135
Q

List 10 conditions in the differential for stroke

A 
Migraine
Seizure
Meningitis
Demyelination
Hypoglycemia
IEM-e.g. MELAS
Alternating hemiplegia
Acute cerebellar ataxia
Channelopathy
136
Q

List 10 causes of acute ischemic stroke

A

Arteriopathic

  • Moya Moya
  • Vasculitis
  • Focal cerebral arteriopathy
  • PHACES

Cardiac

  • Complex congenital heart diseases
  • Arrhythmias
  • Cardiomyopathy
  • Endocarditis

Hematologic

  • Iron deficiency
  • Sickle Cell
  • Coagulation disorders → factor V leiden, APA syndrome
  • Prothrombotic meds → OCPs, asparaginase (chemo)
137
Q

List 3 steps in the management of acute ischemic stroke

A
  1. Antithrombotics for secondary stroke prevention-heparin, ASA
  2. Neuroprotection
    - Tight control of glucose, temp, seizures
    - Maintain cerebral perfusion
  3. Manage underlying disease
    - Sickle cell – transfusion
    - Vasculitis – immunosuppression
    - Moyamoya – revascularization surgery
  4. Rehabilitation
138
Q

What is the most common cause of CP in term babies?

A

Perinatal stroke

139
Q

List 2 complications of CSVT

A

Raised ICP
Optic neuropathy
Venous infarction
Cerebral edema

140
Q

List 5 risk factors for CSVT

A

Prothrombotic conditions – factor V leiden, protein C/S deficiency, prothrombin mutation, antithrombin III deficiency, APA, pregnancy

Dehydration

Iron-deficiency anemia

Drugs/Toxins – OCPs, aspariginase

Systemic illness – sepsis, DIC

Chronic diseases – IBD, leukemia

Nephrotic syndrome

IEMs – homocystinuria

Trauma

Infection causing septic thrombophlebitis

Venous malformations

Compression – e.g. birth

Iatrogenic – neurosurgery, CVLs, ECMO

141
Q

How do you treat CSVT?

A

Anticoagulation with unfractionated or low molecular weight heparin

Treat for 3 months, then re-image– if persistent thrombus, extend to 6 months

142
Q

List 5 causes of hemorrhagic stroke

A
  1. Vascular malformations/disorders
    - AVM
    - Cavernomas (cavernous angiomas)
    - Vein of Galen malformations
    - Aneurysms (uncommon)
    - Moyamoya
    - Vasculitis
    - Tumours with unstable vessels
  2. Drugs/toxins (cocaine, amphetamines)
  3. Hematologic Disorders
    - ITP
    - HUS
    - Liver disease/failure
    - Vitamin K deficiency/Hemorrhagic disease of the newborn
    - DIC
  4. Trauma
143
Q

List causes of acquired peripheral neuropathies in chidlren

A
  1. Infections
    a. Lyme – rarely get peripheral neuropathy in children
    b. Chagas (chronic)
    c. Diphtheria
    d. Leprosy
    e. Rabies
  2. Guillain-Barre Syndrome(Nelsons)
  3. Rheumatic Diseases
    a. Churg-Strauss
    b. HSP/IgA Vasculitis
    c. IBD
    d. JIA
    e. PAN
    f. Sarcoid
    g. Sjogren
    h. SLE
    i. Wegener Granulomatosis
  4. Organ Failure – e.g. uremia
  5. Other:
    a. Diabetes
    b. Hypothyroidism
    c. Celiac
    d. Porphyria
    e. Malignancy
  6. Medications
    a. Antiretrovirals
    b. Chemo agents
    c. Phenytoin
    d. Thalidomide
  7. Vitamin Deficiency or Excess – particularly B-vitamins
  8. Toxins
    a. Arsenic
    b. Lead
    c. Mercury
    d. Glue
    e. Organophosphates
144
Q

List causes of hereditary neuropathy in children

A
  1. Charcot-Marie-Tooth
  2. Peroneal Muscular Atrophy
  3. Dejerine-Sotas
  4. Roussy-Levy
  5. Refsum Disease
  6. Fabry Disease
  7. Giant Axonal Neuropathy
  8. Congenital Hypomyelinating Neuropathy
  9. Leukodystrophies
145
Q

What infectious agents are associated with Guillain Barre?

A

Campylobacter
H. pylori
Mycoplasma
West nile

146
Q

List 2 signs of impending respiratory failure in Guillain Barre?

A

Bulbar involvement!

Dysphagia
Facial weakness

147
Q

List 3 clinical features of Miller Fisher syndrome

A

External ophthalmoplegia
Ataxia
Muscle weakness with areflexia

148
Q

What CSF findings are consistent with GBS?

A

High protein + normal WBC (diagnostic!), normal glucose

149
Q

What investigations do you order in GBS?

A

MRI spine
NCS
EMG

150
Q

List 3 steps in management of GBS

A

Admit on monitors

Monitor resp status with spirometry

If rapid progression – IVIg +/- plasmapheresis +/- immunosuppression

Gabapentin for chronic neuropathic pain

151
Q

When should you expect a patient with GBS to recover?

152
Q

List 3 poor prognostic factors in GBS

A

CN involvement
Intubation
++disability at presentation

153
Q

What is the most common genetically determined neuropathy?

154
Q

How is CMT inherited?

155
Q

Describe clinical features of CMT

A

Asymptomatic until late childhood

Clumsy

Muscle wasting

Stork-like legs

Footdrop

Enlarged palpable nerves

High-arched feet

Can also get sensory and autonomic involvement

156
Q

Differential for facial nerve palsy

A 
Congenital facial palsy-Moebius syndrome
Bell's Palsy (HSV)
AOM
Lyme
Ramsay Hunt
Cholesteatoma
Melkersson-Rosenthal syndrome ( facial paralysis, episodic facial swelling, and a fissured tongue)
Sarcoidosis
157
Q

Management of Bell’s palsy

A

Prednisone

Management of dry eyes

158
Q

What is the prognosis of Bell’s palsy?

A

85% full recovery
10% mild residual weakness
5% severe residual weakness

159
Q

What is Ramsay Hunt caused by?

A

Reactivation of VZV

160
Q

List two causes of congenital facial palsy

A

Congenital absence of depressor angularisoris muscle

Moebius

161
Q

What is the abnormality sif often associated with congenital absence of depressor angularisoris muscle ?

162
Q

Describe the clinical features of complex regional pain syndrome

A

Pain out of proportion to history and physical findings
Pain and allodynia severe
Pain with movement of joint
Warm, erythema, edema initially, then cool/clammy
Disuse atrophy
Preceding history of trauma in many cases

163
Q

Treatment of CRPS

A

PT/OT
Psychotherapy
Stop meds
For severe, refractory-pain reducing procedures (e.g. regional sympathetic nerve block)

164
Q

Definition of concussion

A

Trauma-induced brain dysfunction without demonstrable structural injury on standard neuroimaging

165
Q

List 5 clinical signs/symptoms of concussion

A 
1. Symptoms/physical signs 
Headache
Nausea/vomiting
Dizziness
Visual disturbances
Photophobia
Phonophobia
Loss of consciousness
2. Behavioural changes	
Irritability
Emotional lability
Sadness
Anxiety
Inappropriate emotions	
3. Cognitive impairment	
Slowed processing
Difficulty concentrating/attention
Impaired memory/learning
Confusion
  1. Sleep disturbances
    Sleeping more than usual
    Sleeping less than usual
166
Q

When can patients return to play?

A

Once symptom-free and back to full-time school attendance without accommodations, the student can start with graduated return to play
Should be symptoms free for 7-10 days

167
Q

How long does each phase last in return to play protocol?

A

24 hours, go back if symptoms

168
Q

List 3 preventive strategies to prevent concussion

A

Promote fair play and sportsmanship
Advocating for rule changing (ie) no hitting/check below the head
Helmets don’t prevent concussion, but reduce risk of severe brain injury

169
Q

Return to learn protocol

A
  1. Cognitive rest
    - Decrease and limit cognitive tasks and screen time at home. No school
  2. Increase cognitive tasks
    - As symptoms improve, slowly increase cognitive tasks at home in 15 min to 20 min increments.
  3. Resume modified school attendance
    - As symptoms continue to improve, resume school attendance. Start with half-days or only certain classes (avoid gym, music, shop). Limit homework assignments to 15 min to 20 min blocks.
  4. Increase school attendance
    - Gradually increase school attendance to full days as symptoms allow. Specific accommodations may be required to avoid symptom exacerbation. Tests should be limited to one per day in a quiet area, with unlimited time and frequent breaks
170
Q

Return to play protocol

A
  1. No activity * (optimally 7-10days)
  2. Light aerobic exercise
    -Walking, swimming or stationary cycling
    No resistance training
  3. Sport-specific exercise
    - Simple drills
  4. Noncontact training drills
    - Complex drills
  5. Full-contact practice
  6. Return to play
171
Q

What advise would you give patients re: return to play?

A

No activity for at least 7 days.

Return to Learn prior to return to play

Return to play in step wise approach after 7 days rest, each step should take at least 24 hours.

6 steps – 6 days if all goes well.

No practices for 1 week, slow return

If in two weeks return has gone well, may play in games.

172
Q

List 5 etiologies for CP

A 
Antenatal factors-80%
Prematurity
Perinatal hypoxic-ischemic injury <10%
Congenital abnormalities
Genetic susceptibility
Multiple births
Stroke
Intracranial hemorrhage
Intrauterine infection
Acquired postnatal causes
(stroke, sepsis/meningitis, kernicterus
173
Q

What is the most common cause of spastic diplegia?

A

Prematurity (20-34 weeks)
PVL
Rare: Urea cycle defects

174
Q

What is the most common cause of spastic hemiplegia?

175
Q

What is the most common cause of dyskinetic CP?

A

Asphyxia
Kernicterus
Less common: mitochondrial disease, glutaricaciduria, Segawa disease (doparespsonisve)

176
Q

List 5 early signs of CP

A
  • Excessive docility or irritability
  • Poor feeding
  • Delay in the disappearance or exaggeration of a developmental reflex (>6 months)
  • Rolling over early
  • Persistent ATNR >7 months
  • Delayed motor milestones
  • Early hand preference (1 yea)
  • Persistent extension of legs with vertical suspension
  • Toe walking
  • Delayed walking
177
Q

List 3 clinical features of spastic hemiplegia

A

Decreased spontaneous movements on the affected side

Hand preference at a very early age (by 1 year)

Arm more than leg

Delayed walking, circumductive gait

178
Q

List 3 clinical features of spastic diplegia

A 
Bilateral spasticity of the legs ≥ arms
Scissoring legs when suspended by axillae
Commando crawl
Diapering difficult (hip adduction)
Unable to sit
Bilateral ankle equinovarus
Tiptoe walking
179
Q

List 3 clinical features of spastic quadriplegia

A

All limbs impaired
High rate of cognitive delay and seizures.
Speech and vision highly affected
Swallowing difficulties → aspiration pneumonia

180
Q

Gross Motor Function Classification System (GMFCS)

A

Level I – Walks without limitations
Level II – Walks with limitations
Level III – Walks using a hand-held mobility device (canes, crutches, and anterior and posterior walkers that do not support the trunk)
Level IV – Self-mobility with limitations; may use powered mobility
Level V – Transported in a manual wheelchair

181
Q

What investigations to order in CP?

A

MRI Brain

Hearing and Vision screening

Consider genetic or metabolic as indicated

Inherited thrombophilic disorders should be tested if in utero stroke suspected

182
Q

List the components of management of CP

A 
OT, PT, SLP, Developmental peds
Adaptive equipment
Family and community resources
Treatment of spasticity/contractures-tendon releases, benzos, baclofen, botox, casting etc. 
Psych for behaviour
183
Q

When does the parachute reflex appear and disappear?

A

Appears at 7-9 months and does not disappear

184
Q

When does moro reflex disappear?

185
Q

When does grasp reflex disappear?

186
Q

When does ATNR disappear?

187
Q

List 5 features that are highly suggestive of GBS as unerlying cause of progressive weakness

A
  • **Progression over days to a few weeks
  • Relative symmetry
  • Mild sensory loss
  • Onset with extremity pain or discomfort
  • Cranial nerve involvement
  • Onset of recovery 2-4 weeks after halt of progression
  • Autonomic dysfunction
  • Initial absence of fever
  • Elevated CSF protein after 1 week of symptoms
  • Abnormal NCS with slowed conduction or prolonged F waves
188
Q

List 5 features that work against the diagnosis of GBS as underlying cause of progressive weakness

A

Marked, persistent asymmetry of weakness

Persistent bladder or bowel dysfunction

Bladder or bowel dysfunction at onset

Mononuclear leukocytosis in CSF > 50/uL

Sharp sensory level

189
Q

What investigations would you order in suspected GBS?

A

LP
NCS-reduced conduction within days of symptoms
EMG-denervation, usually need 2-3 weeks of symptoms
MRI spinal cord with Gad-r/o differential

190
Q

List 3 severe complications to monitor in GBS

A

Bulbar dysfunction with aspiration risk

Respiratory failure

Autonomic dysfunction → arrhythmias, asystole

191
Q

What is the pathophysiology of myasthenia gravis?

A

Ach-receptor-antibodies

192
Q

Describe the clinical features of neonatal mysathenic syndrome

A

Infants born to myasthenic mothers

Placentally transferred anti-ACh receptor antibodies

Characterized by respiratory insufficiency (may need vent), inability to suck/swallow, generalized hypotenia

After the Ab resolve, regain normal strength (within a few weeks)

193
Q

List 3 cliical features of juvenile myasthenic syndrome

A

Ptosis/EOM weakness are earliest and most constant signs

Pupillary responses preserved

Dysphagia/facial weakness also common (infant feeding difficulties, choking)

Poor head control with weakness of neck flexors common.

Weakness of limb-girdle muscles and distal muscles of the hands

DTRs diminished but not lost

No fasciculations, myalgias, or sensory symptoms

***Rapid fatigue of muscles is a distinguishing feature

194
Q

What investigations would you order in suspected myasthenia gravis?

A

EMG: decremental response to repetitive nerve stim; responses diminish rapidly until muscle refractory to further stim

NCS: normal

Anti-Ach antibodies (only +ve in 30%)
Anti MuSK antiobodies

Serologic markers of autoimmune (ANA, c3/c4…);

Check thyroid

CK: normal

195
Q

Treatment of myasthenia gravis

A
  1. Cholinesterase inhibitors: neostigmine, pyridostigmine
  2. Immunosupporession second line; PLEX may be used
  3. ?Thymectomy, might provide a cure
  4. Avoid certain drugs-gentamicin, succinylcholine
196
Q

Clinical presentation of botulism

A

Honey/soil exposure (spores near construction, farm)

Descending paralysis

Initially bulbar palsies (ptosis, dysarthria, dysphonia, dysphagia→ facial weakness)

***Desceding paralysis over hours to days

Decreased DTRs

197
Q

How do you diagnose botulism?

A

Stool +ve toxin

EMG: decreasing response with stimulation similar to MG

198
Q

How do you treat botulism?

A

Botulism Ig or IVig is mainstay of Rx (within 72h)

Supportive care

199
Q

Clinical features of tick paralysis

A

***Ascending paralysis (resembles GBS)

Absent DTRs

***Progresses over hours to days

Facial/ocular/lingual muscles may be involved

Sensory paresthesias can occur in face and extremities

Once tick removed, recover within hours-days.

200
Q

What disease is highly associated with optic neuritis?

A

MS

Others:
NMO
ADEM

201
Q

What are the clinical features of optic neuritis?

A

Monocular (sometimes binocular) vision loss

Eye pain

Develops over hours to days and peaks within 1-2 weeks

RAPD positive

202
Q

Over what time period do most patients with optic neuritis recover?

A

Most patients with optic neuritis recover functional vision within one year.

203
Q

What is the treatment of optic neuritis?

A

IV steroids in select patients

204
Q

List 3 clinical features that would suggest transverse myelitis as a cause of weakness

A 
Neck/back pain
Bilateral sensorimotor chances
Urinary retention occurs early
Sensory levels
Initially flaccidity, progresses to spasticity
205
Q

What tests would you order in suspected transverse myelitis?

A

MRI with and without Gad-r/o mass lesion, enhancing lesion in spinal cord

LP after mass lesion ruled out (will show pleocytosis, high IgG index)

NMO antigen.

206
Q

Describe the clinical features of NMO

A

Recurrent episodes optic neuritis and/or transverse myelitis

207
Q

List 2 risk factors for NMO

A

F>M

Asian>black/white

208
Q

List 3 differences between MS and NMO

A

In NMO:

(1) other parts of nervous system generally not involved
(2) recovery not as complete
(3) ON more frequently bilateral in NMO than in MS
(4) NMO is more frequently fatal than MS.

209
Q

What CSF finding is characteristic of NMO?

A

↑ WBC (usually >50)

Nooligoclonal bands (unlike MS)

210
Q

What is the definition of MS

A

Chronic demyelinating d/o of brain, SC and optic nerves

Relapsing-remitting course

Episodes separated in time and space
-Episodes >24 hr and separated by >30 days
OR
-Accumulation of T2/enhancing lesions over 3 month period

211
Q

What is the typical age of presentation of ADEM?

212
Q

Describe clinical features of ADEM

A 
H/A
Vomiting
Fever
Seizures
Encephalopathy
Multifocal neurologic deficits (: visual loss/ON, CN neuropathies, ataxia, motor deficits (TM or hemiparesis), bladder/bowel dysfunction )
213
Q

What is the prognosis of ADEM?

A

Maximum disability 4-7 days; severe phase overall lasts 2-4 weeks

Most fully recover

214
Q

If ADEM recurs after 3 months, what conditions must you consider?

A

MS
NMO
Recurrent ADEM (but not if >2)

215
Q

List 3 differences between ADEM and MS

A
  1. ADEM <10 years, MS >10 years
  2. ADEM: Encephalopathy, vomiting fever at presentation
  3. ADEM: Bilateral ON, MS: unilateral ON
  4. ADEM: Multifocal, widespread lesions, MS: isolated lesions
  5. ADEM: CSF-pleocytosis, MS: oligoclonal bands
216
Q

List 3 clinical features of adrenoleukodsytrophy

A 
Present 5-15 years
Academic difficulties
Behavioural disturbance
-Can be mistaken for ADHD
Seizures
Visual disturbance
Ataxia 
Poor handwriting
217
Q

How is adrenoleukodystrophy inherited?

218
Q

Genetics of Duchene’s

A

X-linked recessive

In-frame deletion = partial dystrophin production (BMD)
Frame-shift mutation - absent protein (DMD)

30% de novo

DMD gene on Xp21

219
Q

When is the clinical onset of weakness in DMD?

A

2-3 years of age

220
Q

What is the pattern of weakness in DMD?

A

Proximal before distal

Lower before upper

221
Q

List 2 physical exam features consistent with DMD

A

Gower’s sign
Waddling gait
Lumbar lordsosis
Calf pseudohypertrophy

222
Q

When are patients with DMD typically wheel chair bound?

223
Q

List 5 complications associated with DMD

A 
Progressive scoliosis
Contractures
Malignant hyperthermia
Fractures due to falling
Dilated cardiomyopathy
Arrythmias
Hypoventilation
Frequent pulmonary infections
Aspiration risk
Intellectual disability
224
Q

How do you make diagnosis of DMD?

A

Molecular testing for dystrophin gene mutation
Elevated CK
Muscle biopsy if PCR normal

225
Q

Treatment of DMD

A

Multidisciplinary team

Neurology

  • Steroid treatment (deflazacort (starting age 5))
  • Bone density scan
  • Muscle strength testing

Orthopedics

  • Monitor for scoliosis, achilles tightening
  • Manage fractures from falls

Cardiology

  • Monitor for DCM
  • Echo Q2 years <10, then yearly >10
  • ECG

Physiotherapy

  • Passive stretching
  • Night splints
  • Chest physio

Respirology

  • PFTs
  • PCO2
  • Monitor for nocturnal hypoventilation
226
Q

List 2 differences between DMD and BMD

A

BMD-age of onset later (15 years), LD less common, cardiomyopathy more evident

227
Q

Specific biopsy finding in DMD

A

Immunohistochemical staining shows abnormal dystrophin molecule

228
Q

What 2 things do you want to know to help with genetic counseling in DMD?

A
  1. Plan to have more kids?
  2. Family Hx DMD
    o Mom with one other affected relative in FHx in obligate carrier
    o Mom with no FHx but multiple affected sons has either germline mutation or is mosaic carrier including germline
    o Mom with no FHx and only one affected son means proband may have de novo mutation
229
Q

Anatomic differential of neonatal hypotonia

A

Central:

CNS

  • Metabolic (glycogen metabolism, carnitine def, peroxisomal, mitochondrial…)
  • Genetic (T21, Fragile X, PWS, Kabuki syndrome)
  • Cerebral dysgenesis
  • HIE

Peripheral:

Anterior horn cell disorder
-SMA

NMJ disorder
-Transient neonatal myasthenia, congenital myasthenia, infant botulism, MgSO toxicity,…

Congenital myopathies
-Nemaline myopathy…

Muscular dystrophies
-Congenital muscular dystrophy, CMD with brain abN (walker-warburg, muscle-eye-brain Dz, Fukuyama dz), Congenital myotonic dystrophy

230
Q

Describe the different type of SMA

A

SMA type 1

  • Presents in neonate (0-6 months)
  • Prenatally ↓ fetal movements
  • Never sit

SMA 2

  • Presents between 3 and 15 months of age
  • Never stands

SMA 3

  • Presents after 1 year of age
  • Can stand and walk

SMA4
-Adult onset

231
Q

Describe 3 clinical features of SMA syndrome

A

Diffuse symmetric proximal muscle weakness
LE >UE
Absent reflexes
Arthrogryposis if prenatal onset
Fasiculations of tongue***
Alert expression
Bell shaped chest deformity (intercostals more affected than diaphragm)

232
Q

How do you diagnose SMA?

A

Genetic molecular testing for mutation

If normal, confirm with muscle Bx

233
Q

How is myotonic dystrophy inherited?

A

AD, usually from mother

234
Q

What signs should you look for in a mother a child with suspected myotonic dystrophy?

A

Frontal balding
Mouth opening
Hand myotonia when shake it
Dull cognition

235
Q

Describe the clinical features of congenital myotonic dystrophy (or congenital DM1)

A 
Profound hypotonia
Facial diplegia
Characteristic face-tented upper lip, thin cheeks, temporalis wasting
High arched palate
Doliocephaly
Decreased DTRs
Arhtyrogroposis
Respiratory failure
Myotonia not present until >1 year
236
Q

List 3 clinical features of juvenile myotonic dystrophy (juvenile DM1)?

A

**Progressive wasting of distal muscles
SCM atrophy
Gowers sign
***DTRs preserved
Dysarthria
Myotonia usually not evident until age 5 yr

237
Q

List 3 non-muscular complications of juvenile myotonic dystrophy

A 
GI-slow gastric emptying, constipation
Cardiac-heart block, arrythmia
Endocrine-hypothyroidism, DM, arenal insufficiency, delayed puberty
Cataract
Low IgG
Intellectual impairment
238
Q

How do you diagnose myotonic dystrophy?

A

Molecular genetic testing DM1/DM2

239
Q

Describe the clinical features of congenital muscular dystrophy

A 
Similar to congenital myotonic dystrophy, but less common!
Hypotonic
Weak (more axial/proximal)
↓ DTRs
Facial weakness
Difficult feeding
Arthrogriposis (contracture 2+ joints at birth) 
Elevated CK
240
Q

Name 3 types of congenital myopathy

A

Nemaline rod
Central core disease
Myotubular myopathy

241
Q

How do you distinguish between congenital myopathy and congenital myotonic dystrophy

A

Both have same clinical features BUT in

congenital myopathy-mother is normal and multisystem disorder!

242
Q

How do you diagnose nemaline rod myopathy?

A

Muscle biopsy

243
Q

List 3 risk factors for ONTDs

A

Folic acid deficiency

AEDs (VPA, carbemazepine), Maternal obesity or diabetes

244
Q

How much folic acid should mothers with risk factors be taking to prevent ONTDs?

245
Q

What is the best prenatal test for ONTDs?

A

2nd TM U/S (95% sensitivity)

AFP (85% sensitivity)

246
Q

What is spina bifida occulta?

A

Cleft in vertebral column without protrusion of SC or meninges

247
Q

List 3 complications associated with spina bifida occulta

A

Syringomyelia, Diastematomyelia
Tethered cord
Anorectal and urogenital malformations

248
Q

List 3 complications associated with meningocele

A

Syringomyelia, Diastematomyelia
Tethered cord-can lead to spastic diplegia
Hydrocephalus

249
Q

List 3 reasons why patients with encephalocele are at increased risk of hydrocephalus

A

Aqueductal stenosis
Chiari
Dandy-Walker

250
Q

In tethered cord, conus medullaris ends beyond ___?

251
Q

How do you patients with syringomelia present?

A

Central cord syndrome
Numbness beginning in shoulders in capelike distribution

Then weakness in UE before LE

252
Q

What is diastematomyelia?

A

SC split in half; anatomy of outer half essentially normal, medial half very underdeveloped

253
Q

Describe the clinical features of diastematomyelia?

A

Progressive loss of bowel/bladder function
Sensory/motor difficulties in the LEs
Back pain common

254
Q

List 3 spinal lesions that require imaging for occult spinal dysraphism

A

Subcutaneous mass or lipoma

Hairy patch

Dermal sinus

Atypical dimples (deep, >5 mm, >25 mm from anal verge)

Vascular lesion, e.g., hemangioma or telangiectasia

Skin appendages or polypoid lesions, e.g., skin tags, tail-like appendages

Scarlike lesions

255
Q

List 3 conditions associated with myelomeningocele

A

MSK

  • Club feet
  • Contractures
  • Hip subluxation

GI

  • Neurogenic bowel
  • Constipation

GU

  • Urinary retention
  • Constant urinary dribbling

CNS

  • Type II Chiari
  • > 90% have hydrocephalus
  • Hind brain dysfunction-stridor, VCP, apnea, spasticity of upper extremities,
256
Q

List 3 management priorities in spinal dysraphism

A

1) Surgery several days after birth
2) Shunt for hydrocephalus
3) CIC
4) Periodic urine cultures and assessment of renal function
5) Bowel regimen

257
Q

3 things you would tell mother with a previous child with myelomeningocele who is planning to have another child

A

Higher risk of recurrent NTD due to previously affected pregnancy

Folic acid 4-5mg daily 1 mo prior and for 1st TM after conception

Offer Amniocentesis at 16 weeks for AFP or Screening U/S at 18-20 weeks (MSAFP at 15-16 weeks not as sensitive)

258
Q

Myelomeningocele in what area is most likely to be associated with lower limb paresis?

A

Higher up, worse outcomes

259
Q

What sort of imaging should you do for spinal dysraphism?

A

Spinal U/S <6 months

MRI spine >6 months

260
Q

4 Risk factors for developing epilepsy after febrile seizure

A

Complex febrile seizure
Developmental delay
Family history of epilepsy
Febrile seizure within 1st year of life

261
Q

List 4 types of treatable neonatal seizures

A
  1. Pyridoxine dependent seizures
  2. Biotinidase deficiency
  3. Folinic acid responsive seizures
  4. Glucose transporter type 1 syndrome
  5. Pyridoxal phosphate dependent seizure
262
Q

List 4 causes of raised ICP

A

Tumour
CSVT
Pseudotumour cerebri
Meningitis/encephalitis

263
Q

Best treatment for tension headaches

A

Acetaminophen

264
Q

What is a Arnold Chiari type II malformation?

A

Herniation of the cerebellar tonsils, caudal brainstem, and the fourth ventricle through the foramen magnum

Associated with myelomeningocele
and hydrocephalus

265
Q

List 3 conditions associated with Arnold Chiari type II malformation (other than myelomeningocele and hydrocephalus)?

A

Hypoventilation
Vocal cord paralysis
Bradyarrhytmias

266
Q

Clues to central vs peripheral causes of neonatal hypotonia

A

Central:

  • Dysmorphisms
  • Encephalopathic
  • Normal strength
  • Hyperactive or normal reflexes
  • Fissting, scissoring
  • Seizures

Peripheral:

  • Alert
  • Profound weakness
  • Hyporeflexia
  • Fasciulations
  • Muscle atrophy
267
Q

Work up for neonatal hypotonia

A
  • Sepsis – urine, blood , CSF culture
  • Metabolic – lytes, glucose, LFTs, ammonia, RFTs, gas, plasma amino acids, urine organic acids, lactate, pyruvate, ammonia, acylcarnitine profile, CK
  • TORCH titres, urine for CMV if calcifications, HSM
  • Karyotype if dysmorphisms
  • Array comparative genomic hybridization
  • Methylation studies for imprinting defects
  • Mutation analysis for known disorders (SMA, mytonic dystrophy)
  • EP studies, EMG studies, muscle biopsy
  • MRI/MRS

FRCPC (27 decks)

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