Neurology Flashcards
1
Q
What percentage of patients with first unprovoked seizure have another seizure?
A
40%
80%-if 2 unprovoked seizures
2
Q
In what age group are febrile seizures most common?
A
6 months to 60 months
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
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%)
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%
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
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
8
Q
When should you LP for febrile seizure?
A
<6 months for sure, some would say also <12 months
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
10
Q
List 4 indications for MRI in first presentation seizure
A
Developmental delay Abnormalities on exam Focal seizures EEG abnormalities Age < 1 year
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 ,
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
13
Q
What is the characteristic EEG finding in
A
Broad-based centrotemporal spikes increased in frequency during drowsiness and sleep
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
15
Q
What is the prognosis of Benign epilepsy with occipital spikes ?
A
Spontaneous remission usually occurs within 2-3 years from onset
16
Q
Which epilepsy syndrome is often preceded by febrile seizures where patients have atrophy and gliosis of hippocampus/amygdala?
A
Temporal lobe epilepsy
17
Q
What is the most common cause of surgically remediable epilepsy?
A
Temporal lobe epilepsy
18
Q
What is the classic EEG finding in Landau Kleffner?
A
Electrical status epilepticus during sleep->85% of non-REM sleep
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
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
21
Q
What is the typical age of onset of absence seizures?
A
5-8 years of age
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
23
Q
What is the classic EEG finding in absence seizures?
A
3 Hz spike–and–slow wave discharges
24
Q
What is the prognosis of absence seizures?
A
Most outgrow by adulthood
Small group will develop JME
25
Describe the clinical features of benign myoclonic epilepsy of infancy
Onset of myoclonic and other seizures during the 1st yr of life
26
What is the age of onset of juvenile myoclonic epilepsy?
Starts in early adolescence (average 15 years)
27
What are the 3 seizures types seen in juvenile myoclonic epilepsy?
Myoclonus (usually early morning, first sign)
GTC
Juvenile absence
28
List 3 triggers for seizures in juvenile myoclonic epilepsy?
Sleep deprivation
Alcohol
Photic sitmulation
Gognitive acitvites
29
What is the characteristic EEG finding in juvenile myoclonic epilepsy?
Generalized 4-5 Hz polyspike–and–slow wave discharges
30
What is the prognosis of juvenile myoclonic epilepsy?
Life long AEDs
31
List 2 treatment options for juvenile myoclonic epilepsy
Valproate
Lamotrigine
(Similar to absence seizure tx)
32
At what age and how does Dravet syndrome typically present?
Begins with focal febrile status epilepticus in 1st year of life (6 months)
33
List 2 clinical features of Dravet syndrome
1) Refractory epilepsy-often requires KD or vagal nerve stimulation
2) Neurodevelopmental problems beginning in infancy
34
Describe the semiology of infantile spasms
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
35
How do you differentiate benign myoclonus of infancy (different from benign myoclonic epilepsy of infancy!) from IS?
Only when asleep
Normal EEG
Normal development
36
What is the age of onset and resolution of benign myoclonus of infancy?
3-8 months of age
| Increase in intensity and severity over weeks or months and then remit spontaneously at 2-3 years of age
37
When is the typical age of presentation of infantile spasms?
Present between 3-7 months of age; onset after 18 months is rare
38
When do infantile spasms typically resolve?
Age 3-4 years
| But usually other seizure types emerge....
39
What is the characteristic EEG finding in infantile spasms?
Hypsarrhythmia (high-voltage, slow, chaotic background with multifocal spikes)
40
List 5 conditions associated with infantile spasms
```
Tuberous sclerosis (10%)
Cortical dysplasias
Miller-Dieker syndrome
Aicardi syndrome
Hemimegancephaly
Chromosome abnormalities
NF1
IEM
Congenital infections
Perinatal insults
```
41
What is west syndrme?
Infantile spasms with DEVELOPMENTAL REGRESSION
42
What epilepsy syndromes typically evolve into Lennox Gastaut?
Many patients start Ohtahara→ West syndrome →Lennox-Gastaut
43
What is the typical age of patients with Lennox Gastaut?
Age of 2 – 10
44
What is the semiology of Lennox Gastaut?
Multiple seizure types:atypical absences, myoclonic, astatic, and tonic seizures
45
Does Lennox Gastaut lead to developmental delay?
YES
| Poor outcome
46
List 5 epilepsy syndromes of infancy
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
47
What is the typical clinical presentation of benign idiopathic neonatal seizures?
Usually apneic and unifocal clonic seizures that start around the fifth day of life (unlike GTC in benign familial neonatal seizures)
48
What is the characteristic EEG finding in benign idiopathic neonatal seizures?
Interictal EEG shows a distinctive pattern called theta pointu alternant (runs sharp 4-7 Hz activity)
Ictal EEG shows multifocal electrographic seizures
49
When do benign idiopathic neonatal seizures usually resolve?
By 6 weeks
| Good prognosis!
50
What is the characteristic EEG finding in benign familial neonatal seizures?
Interictal EEG is normal
51
How are benign familial neonatal seizures inherited?
Autosomal dominant
| Mutations in KCNQ2 and KCNQ3 genes
52
What are the important components of seizure education?
Supervised swimming
Helmet
Driving
Seizure safety
53
What AEDs can you use for absence seizures?
Ethosuximide, valproate, lamotrigine
54
What AEDs can you use for focal seizures?
Carbamazepine, keppra, topiramate
55
What AEDs can you use for generalized seizures in children >2 years of age?
Valproate, keppra, topiramate
56
What AEDs can you use for JME?
Valproate, lamotrigine
57
What AEDs can you use for infantile spasms?
Vigabatrin
| ACTH
58
When should you NOT use valproate?
If metabolic disorder has not been ruled out
| <2 years of age
59
When should you NOT use carbamezipine or phenytoin?
Absence or myoclonic
60
In general, after how many years of being seizure free should AEDs be discontinued?
2 years
61
Side effects of valproic acid
```
Transaminitis
Pancreatitis
Thrombocytopenia
Weight gain
Hair loss
Tremor
PCOS
Teratogenic
```
62
Side effects of phenytoin
```
Gingival hyperplasia
Hirsutism
Decreased bone mineral density
SJS
Folic acid depletion
```
63
Side effects of keppra
Behavioural disturbance
64
Side effects of lamotrigine
SJS
65
Side effects of vigabatrin
Retinal toxicity
| Concentric visual loss
66
Side effects of topamax
Kidney stones
Cognitive slowing
Weight loss
67
Side effects of ethosuximide
Agranulocytosis
68
List 10 differentials for seizures
```
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
```
69
List 10 differentials for seizures
```
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
```
70
What is the typical age of presentation of breatholding spells?
6 and 18 mo of age
71
What clinical clues suggest a diagnosis of breatholding spells?
Provoked with injury, anger, and frustration, particularly with surprise
Starts with cry, then apnea, cyanosis-->can lead to syncope or anoxic seizure
72
List 3 steps in management of breatholding spells
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
73
What is the main reason diazepam is not used as an anticonvulsant in neonates?
Neonates have decreased liver metabolism of diazepam
| Can accumulate with repeated use and cause increased toxicity
74
What is the clinical signs of infantile masturbation?
May occur in girls 2-3 yr of age
Perspiration, irregular breathing, and grunting, but no loss of consciousness
75
What sutures are fused in scaphocephaly?
Sagittal suture
| No hydrocephalus!
76
What sutures are fused in plagiocephaly?
Unilateral coronal or lambdoidal synostosis
77
What sutures are fused in trigonocephaly?
Metopic suture
78
What sutures are fused in kleeblattschädel?
Multiple sutures fuse prematurely
79
What sutures are fused in acrocephaly?
Sagittal, coronal, and lambdoid synostosis
80
Name 2 complications of craniosynostosis
```
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
```
81
When is the optimal timing of craniosynostosis surgery?
8 to 12 months of age
82
List 4 physical exam findings that would be contraindications to a LP
Cushing triad
Absence of reactive pupils, Loss of brainstem reflexes, decorticate/decerebrate posturing
Infection at site of LP
Myelomeningocole
Petechial Rash
83
List 4 contraindications to LP
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
84
What patients are at highest risk for chronic valproic acid toxicity?
```
<2 years old
Organic brain disease
Developmental delay of unknown etiology
Metabolic disorders
Multiple AEDs
```
85
List 4 clinical features of acute valproic acid toxicity
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
86
List 4 clinical features of chronic VPA toxicity
```
Hepatic failure
Hyperammonemia
Pancreatitis
Alopecia
Leukopenia
Thrombocytopenia
Anemia
Cerebral edema
```
87
What 4 investigations would you order in suspected chronic VPA toxicity?
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
88
What are the most common types of headaches in children?
1) Migraine
| 2) Tension
89
List 3 characteristics of tension headaches
Mild to moderate in severity
Diffuse
Not affected by activity
Nonthrobbing (often described as a constant pressure)
Duration 30 min to 7 days
90
What is the best pharmacologic management of tension headaches?
Ibuprofen > acetaminophen
91
How much analgesic use does it require to develop medication overuse headaches?
Patient taking analgesics >15days /month for >3months
92
How do you treat medication overuse headaches?
Withdraw slowly, can give steroids as transition for abrupt withdrawl
93
Definition of idiopathic intracranial hypertension
Inc ICP with normal head imaging
94
List 4 risk factors for idiopathic intracranial hypertension
```
Obesity
Female
Systemic disease (SLE, hypo/hyperthyroidism)
Rapid changes in weight
OCP
Tetracycline
TCAs
Growth Hormone
Accutane/Retinoids
```
95
What complication can result from untreated idiopathic intracranial hypertension?
Permanent visual field loss
96
What is the treatment of idiopathic intracranial hypertension?
Acetazolomide
Weight loss
Cessation of triggering med
97
List the ILAR diagnostic criteria of migraines
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
98
What conditions on family history are often associated with migraines?
Migraines
Cyclic vomiting
Motion sickness
Menstrual headaches
99
List 5 triggers for migraines
Poor sleep
Dehydration
Weather changes
Food no longer considered a common trigger
Menses
100
List 3 types of migraine auras
Visual (most common)
-photopsia (flashes of light)
Sensory
- Bugs crawling
- Numbness
Dysphasic
-Difficulty or inability to verbally respond
Hemiplegic
Basilar
101
List 3 clinical features of confusional migraines
Agitation, disorientation, aphasia
Eventually turn into typical migraines
102
List 3 clinical features of abdominal migraine
Dull pain, moderate to severe, from 1h – 72h, usually midline
Must have at least 2 of →anorexia, nausea, vomiting, or pallor
103
Describe Alice in Wonderland Syndrome
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
104
Indications for migraine prophylaxis
Headache is frequent (≥1/week)
Affecting school/life
105
List 3 options for abortive treatment of migraines
Fluids/hydration
NSAIDs (should not use more than 2-3x/week)
Triptans (>12 years)
Antiemetics (prochlorperazine, metoclopramide) -on top of NSAID/triptan
106
List 3 options for prophylaxis of migraines
```
Riboflavin/Mg/CoQ10
CCBs
Amitriptyline
VPA
Topiramate
Gabapentin
Propranolol
Prochlorperazine
```
107
Which migraine prophylaxis to avoid in asthma
Propanolol
108
List 5 features of basilar migraine
Vertigo, tinnitus, diplopia, blurry vision, scotoma, ataxia, occipital h/a
109
List 4 migraine variant conditions
Paroxysmal vertigo
Cyclic vomiting syndrome
Abdominal migraine
Others:
Alice in Wonderland syndrome
Retinal migraine
Basilar migraine-NO TRIPTANS
110
List 5 hyperkinetic movement disorders in childhood
```
Stereotypies
Tics
Chorea
Ballism
Dystonia
Athetosis
Tremor
Myoclonus
```
111
Differential diagnosis for ataxia
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
List 5 clinical features of ataxia telengeactasia
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
How is ataxia telangiectasie inherited?
AR
114
List 3 clinical features of Friedrich ataxia
Ataxia (after AT, but before 10 years)
Explosive dysarthric speech
Skeletal abnormalities (pes cavus, hammertoes, kyphoscoliosis)
Hypertrophic cardiomyopathy
115
What medications are recommended in Friedrich ataxia
Antioxidant therapy with coenzyme Q10 and vitamin E
116
What is the difference between chorea and athetosis?
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
List 3 clinical features in keeping with chorea
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
Differential diagnosis of chorea
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
List 3 clinical characteristics of Sydenham chorea
Chorea
Hypotonia
Emotional lability
120
How long after GAS does sydenham chorea typically present?
Occurs 1-8mo after GAS infection
121
What is the prognosis of sydenham chorea?
Usually spontaneously resolves in 6-9mo, but can persist
122
Differential for tremor
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
List 4 causes of dystonia
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
How do you treat acute dystonic reaction?
IV Benadryl
| IV Benzotropine
125
How long do you need to be on a medication to get tardive dyskinesia?
After at least 3 months of med use and may not resolve after med is discontinued
126
In what type of patients is dyskinetic CP more common?
Term with perinatal asyphyxia?
127
What is the prognosis of • benign paroxysmal torticollis of infancy (recurrent episodes of cervical dystonia starting at 1 y.o.)
Resolves by 3 y.o.
128
List 2 things that make tics worse and 2 things that make tics better
Worse:
Stress
Stimulant meds
Better:
Sleep
Relaxation
Concentration
129
List 3 methods to manage tics
Ignore
CBT
Meds only if the tics cause significant distress or impairment in functioning
(Clonidine, Guanfacine, Haldol, pimozide, SSRI if comorbid OCD/anxiety)
130
List the DSM V criteria for Tourettes
- 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
Name 2 conditions associated with Tourette's
OCD
ADHD
ODD
132
What pharmacologic treatment is recommended for Tourette's?
Risperidone
133
What is PANDAS?
Neuropsychiatric disorders (OCD, tics, and Tourettes) for which a possible relationship with GAS infections has been suggested
134
List 3 things that support diagnosis of Tourettes in a child with tics?
Male (4:1)
Family history of tics
ADHD, OCD
135
List 10 conditions in the differential for stroke
```
Migraine
Seizure
Meningitis
Demyelination
Hypoglycemia
IEM-e.g. MELAS
Alternating hemiplegia
Acute cerebellar ataxia
Channelopathy
```
136
List 10 causes of acute ischemic stroke
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
List 3 steps in the management of acute ischemic stroke
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
What is the most common cause of CP in term babies?
Perinatal stroke
139
List 2 complications of CSVT
Raised ICP
Optic neuropathy
Venous infarction
Cerebral edema
140
List 5 risk factors for CSVT
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
How do you treat CSVT?
Anticoagulation with unfractionated or low molecular weight heparin
Treat for 3 months, then re-image– if persistent thrombus, extend to 6 months
142
List 5 causes of hemorrhagic stroke
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
List causes of acquired peripheral neuropathies in chidlren
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
List causes of hereditary neuropathy in children
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
What infectious agents are associated with Guillain Barre?
Campylobacter
H. pylori
Mycoplasma
West nile
146
List 2 signs of impending respiratory failure in Guillain Barre?
Bulbar involvement!
Dysphagia
Facial weakness
147
List 3 clinical features of Miller Fisher syndrome
External ophthalmoplegia
Ataxia
Muscle weakness with areflexia
148
What CSF findings are consistent with GBS?
High protein + normal WBC (diagnostic!), normal glucose
149
What investigations do you order in GBS?
MRI spine
NCS
EMG
150
List 3 steps in management of GBS
Admit on monitors
Monitor resp status with spirometry
If rapid progression – IVIg +/- plasmapheresis +/- immunosuppression
Gabapentin for chronic neuropathic pain
151
When should you expect a patient with GBS to recover?
2-3 weeks
152
List 3 poor prognostic factors in GBS
CN involvement
Intubation
++disability at presentation
153
What is the most common genetically determined neuropathy?
CMT
154
How is CMT inherited?
AD
155
Describe clinical features of CMT
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
Differential for facial nerve palsy
```
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
Management of Bell's palsy
Prednisone
| Management of dry eyes
158
What is the prognosis of Bell's palsy?
85% full recovery
10% mild residual weakness
5% severe residual weakness
159
What is Ramsay Hunt caused by?
Reactivation of VZV
160
List two causes of congenital facial palsy
Congenital absence of depressor angularisoris muscle
Moebius
161
What is the abnormality sif often associated with congenital absence of depressor angularisoris muscle ?
Cardiac
162
Describe the clinical features of complex regional pain syndrome
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
Treatment of CRPS
PT/OT
Psychotherapy
Stop meds
For severe, refractory-pain reducing procedures (e.g. regional sympathetic nerve block)
164
Definition of concussion
Trauma-induced brain dysfunction without demonstrable structural injury on standard neuroimaging
165
List 5 clinical signs/symptoms of concussion
```
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
```
4. Sleep disturbances
Sleeping more than usual
Sleeping less than usual
166
When can patients return to play?
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
How long does each phase last in return to play protocol?
24 hours, go back if symptoms
168
List 3 preventive strategies to prevent concussion
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
Return to learn protocol
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
Return to play protocol
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
What advise would you give patients re: return to play?
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
List 5 etiologies for CP
```
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
What is the most common cause of spastic diplegia?
Prematurity (20-34 weeks)
PVL
Rare: Urea cycle defects
174
What is the most common cause of spastic hemiplegia?
Stroke
175
What is the most common cause of dyskinetic CP?
Asphyxia
Kernicterus
Less common: mitochondrial disease, glutaricaciduria, Segawa disease (doparespsonisve)
176
List 5 early signs of CP
- 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
List 3 clinical features of spastic hemiplegia
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
List 3 clinical features of spastic diplegia
```
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
List 3 clinical features of spastic quadriplegia
All limbs impaired
High rate of cognitive delay and seizures.
Speech and vision highly affected
Swallowing difficulties → aspiration pneumonia
180
Gross Motor Function Classification System (GMFCS)
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
What investigations to order in CP?
MRI Brain
Hearing and Vision screening
Consider genetic or metabolic as indicated
Inherited thrombophilic disorders should be tested if in utero stroke suspected
182
List the components of management of CP
```
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
When does the parachute reflex appear and disappear?
Appears at 7-9 months and does not disappear
184
When does moro reflex disappear?
6 months
185
When does grasp reflex disappear?
2 months
186
When does ATNR disappear?
7 months
187
List 5 features that are highly suggestive of GBS as unerlying cause of progressive weakness
* **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
List 5 features that work against the diagnosis of GBS as underlying cause of progressive weakness
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
What investigations would you order in suspected GBS?
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
List 3 severe complications to monitor in GBS
Bulbar dysfunction with aspiration risk
Respiratory failure
Autonomic dysfunction → arrhythmias, asystole
191
What is the pathophysiology of myasthenia gravis?
Ach-receptor-antibodies
192
Describe the clinical features of neonatal mysathenic syndrome
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
List 3 cliical features of juvenile myasthenic syndrome
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
What investigations would you order in suspected myasthenia gravis?
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
Treatment of myasthenia gravis
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
Clinical presentation of botulism
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
How do you diagnose botulism?
Stool +ve toxin
EMG: decreasing response with stimulation similar to MG
198
How do you treat botulism?
Botulism Ig or IVig is mainstay of Rx (within 72h)
Supportive care
199
Clinical features of tick paralysis
***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
What disease is highly associated with optic neuritis?
MS
Others:
NMO
ADEM
201
What are the clinical features of optic neuritis?
Monocular (sometimes binocular) vision loss
Eye pain
Develops over hours to days and peaks within 1-2 weeks
RAPD positive
202
Over what time period do most patients with optic neuritis recover?
Most patients with optic neuritis recover functional vision within one year.
203
What is the treatment of optic neuritis?
IV steroids in select patients
204
List 3 clinical features that would suggest transverse myelitis as a cause of weakness
```
Neck/back pain
Bilateral sensorimotor chances
Urinary retention occurs early
Sensory levels
Initially flaccidity, progresses to spasticity
```
205
What tests would you order in suspected transverse myelitis?
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
Describe the clinical features of NMO
Recurrent episodes optic neuritis and/or transverse myelitis
207
List 2 risk factors for NMO
F>M
| Asian>black/white
208
List 3 differences between MS and NMO
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
What CSF finding is characteristic of NMO?
↑ WBC (usually >50)
Nooligoclonal bands (unlike MS)
210
What is the definition of MS
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
What is the typical age of presentation of ADEM?
5-8 years
212
Describe clinical features of ADEM
```
H/A
Vomiting
Fever
Seizures
Encephalopathy
Multifocal neurologic deficits (: visual loss/ON, CN neuropathies, ataxia, motor deficits (TM or hemiparesis), bladder/bowel dysfunction )
```
213
What is the prognosis of ADEM?
Maximum disability 4-7 days; severe phase overall lasts 2-4 weeks
Most fully recover
214
If ADEM recurs after 3 months, what conditions must you consider?
MS
NMO
Recurrent ADEM (but not if >2)
215
List 3 differences between ADEM and MS
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
List 3 clinical features of adrenoleukodsytrophy
```
Present 5-15 years
Academic difficulties
Behavioural disturbance
-Can be mistaken for ADHD
Seizures
Visual disturbance
Ataxia
Poor handwriting
```
217
How is adrenoleukodystrophy inherited?
X-linked
218
Genetics of Duchene's
X-linked recessive
In-frame deletion = partial dystrophin production (BMD)
Frame-shift mutation - absent protein (DMD)
30% de novo
DMD gene on Xp21
219
When is the clinical onset of weakness in DMD?
2-3 years of age
220
What is the pattern of weakness in DMD?
Proximal before distal
| Lower before upper
221
List 2 physical exam features consistent with DMD
Gower's sign
Waddling gait
Lumbar lordsosis
Calf pseudohypertrophy
222
When are patients with DMD typically wheel chair bound?
12 years
223
List 5 complications associated with DMD
```
Progressive scoliosis
Contractures
Malignant hyperthermia
Fractures due to falling
Dilated cardiomyopathy
Arrythmias
Hypoventilation
Frequent pulmonary infections
Aspiration risk
Intellectual disability
```
224
How do you make diagnosis of DMD?
Molecular testing for dystrophin gene mutation
Elevated CK
Muscle biopsy if PCR normal
225
Treatment of DMD
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
List 2 differences between DMD and BMD
BMD-age of onset later (15 years), LD less common, cardiomyopathy more evident
227
Specific biopsy finding in DMD
Immunohistochemical staining shows abnormal dystrophin molecule
228
What 2 things do you want to know to help with genetic counseling in DMD?
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
Anatomic differential of neonatal hypotonia
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
Describe the different type of SMA
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
Describe 3 clinical features of SMA syndrome
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
How do you diagnose SMA?
Genetic molecular testing for mutation
| If normal, confirm with muscle Bx
233
How is myotonic dystrophy inherited?
AD, usually from mother
234
What signs should you look for in a mother a child with suspected myotonic dystrophy?
Frontal balding
Mouth opening
Hand myotonia when shake it
Dull cognition
235
Describe the clinical features of congenital myotonic dystrophy (or congenital DM1)
```
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
List 3 clinical features of juvenile myotonic dystrophy (juvenile DM1)?
****Progressive wasting of distal muscles
SCM atrophy
Gowers sign
***DTRs preserved
Dysarthria
Myotonia usually not evident until age 5 yr
237
List 3 non-muscular complications of juvenile myotonic dystrophy
```
GI-slow gastric emptying, constipation
Cardiac-heart block, arrythmia
Endocrine-hypothyroidism, DM, arenal insufficiency, delayed puberty
Cataract
Low IgG
Intellectual impairment
```
238
How do you diagnose myotonic dystrophy?
Molecular genetic testing DM1/DM2
239
Describe the clinical features of congenital muscular dystrophy
```
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
Name 3 types of congenital myopathy
Nemaline rod
Central core disease
Myotubular myopathy
241
How do you distinguish between congenital myopathy and congenital myotonic dystrophy
Both have same clinical features BUT in
| congenital myopathy-mother is normal and multisystem disorder!
242
How do you diagnose nemaline rod myopathy?
Muscle biopsy
243
List 3 risk factors for ONTDs
Folic acid deficiency
| AEDs (VPA, carbemazepine), Maternal obesity or diabetes
244
How much folic acid should mothers with risk factors be taking to prevent ONTDs?
5 mg/day
245
What is the best prenatal test for ONTDs?
2nd TM U/S (95% sensitivity)
| AFP (85% sensitivity)
246
What is spina bifida occulta?
Cleft in vertebral column without protrusion of SC or meninges
247
List 3 complications associated with spina bifida occulta
Syringomyelia, Diastematomyelia
Tethered cord
Anorectal and urogenital malformations
248
List 3 complications associated with meningocele
Syringomyelia, Diastematomyelia
Tethered cord-can lead to spastic diplegia
Hydrocephalus
249
List 3 reasons why patients with encephalocele are at increased risk of hydrocephalus
Aqueductal stenosis
Chiari
Dandy-Walker
250
In tethered cord, conus medullaris ends beyond ___?
L2
251
How do you patients with syringomelia present?
Central cord syndrome
Numbness beginning in shoulders in capelike distribution
Then weakness in UE before LE
252
What is diastematomyelia?
SC split in half; anatomy of outer half essentially normal, medial half very underdeveloped
253
Describe the clinical features of diastematomyelia?
Progressive loss of bowel/bladder function
Sensory/motor difficulties in the LEs
Back pain common
254
List 3 spinal lesions that require imaging for occult spinal dysraphism
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
List 3 conditions associated with myelomeningocele
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
List 3 management priorities in spinal dysraphism
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
3 things you would tell mother with a previous child with myelomeningocele who is planning to have another child
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
Myelomeningocele in what area is most likely to be associated with lower limb paresis?
Higher up, worse outcomes
259
What sort of imaging should you do for spinal dysraphism?
Spinal U/S <6 months
| MRI spine >6 months
260
4 Risk factors for developing epilepsy after febrile seizure
Complex febrile seizure
Developmental delay
Family history of epilepsy
Febrile seizure within 1st year of life
261
List 4 types of treatable neonatal seizures
1. Pyridoxine dependent seizures
2. Biotinidase deficiency
3. Folinic acid responsive seizures
4. Glucose transporter type 1 syndrome
5. Pyridoxal phosphate dependent seizure
262
List 4 causes of raised ICP
Tumour
CSVT
Pseudotumour cerebri
Meningitis/encephalitis
263
Best treatment for tension headaches
Acetaminophen
264
What is a Arnold Chiari type II malformation?
Herniation of the cerebellar tonsils, caudal brainstem, and the fourth ventricle through the foramen magnum
Associated with myelomeningocele
and hydrocephalus
265
List 3 conditions associated with Arnold Chiari type II malformation (other than myelomeningocele and hydrocephalus)?
Hypoventilation
Vocal cord paralysis
Bradyarrhytmias
266
Clues to central vs peripheral causes of neonatal hypotonia
Central:
- Dysmorphisms
- Encephalopathic
- Normal strength
- Hyperactive or normal reflexes
- Fissting, scissoring
- Seizures
Peripheral:
- Alert
- Profound weakness
- Hyporeflexia
- Fasciulations
- Muscle atrophy
267
Work up for neonatal hypotonia
- 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
