Neurology Topic Reviews Flashcards

Question

How does juvenile myoclonic epilepsy present?

Answer 1

early adolescence with myoclonic jerks in the MORNING (causes pts to drop things and seem "clumsy") 90% progress to GTC seizures and 33% develop juvenile absence seizures neurodevelopmentally normal teens 8-20 yrs old onset

Answer 2

Sleep deprivation, alcohol, photic stimulation

Answer 3

6-18 months However can last up to 8 years old (most resolve by age 4, all will resolve by age 8)

Answer 4

Cyanotic Type (Dominant subtype): apnea and cyanosis after anger/frustration Pallid Type: limp, diaphoretic and pale after injury/pain Mixed Type

Answer 5

CBC and ferritin Association with iron deficiency anemia

Answer 6

No, occasionally can actually have a brief seizure after a breath holding spell NO increased risk for seizure disorders in the future

Answer 7

- Reassure parents (ignore breath holding spell once it has started) - Consider iron supplementation trial Note: Median age of remission 4yrs, 100% will resolve by age 8yrs. Usually neurodevelopmentally normal. No increased risk of seizures disorder in future.

Answer 8

4-6 Hz polyspike-and-slow-wave discharges photosensitvity

Answer 9

VPA, Keppra typically do NOT outgrow their seizures (lifelong tx) note: Do NOT use carbamazepine or phenytoin with absence or myoclonic seizures

Answer 10

Neuropsychiatric symptoms (behaviour/personality changes, irritability, aggression, hypersexuality, depression, anxiety, hallucinations, etc) Neurologic (seizures, movement disorders, chorea, nystagmus, oromotor dyskinesias, etc) Autonomic symptoms (labile BP, Temp instability, cardiac arrhythmias, hypoventilation, HR variability, etc)

Answer 11

continuous generalized tonic-clonic (GTC) seizure activity with loss of consciousness for longer than 30 minutes, or two or more discrete seizures without a return to baseline mental status "early/impending status epilepticus" is continuous seizure >5min or discrete seizures lasting >5min without full recovery of consciousness between seizures

Answer 12

ABCs- position on side, suction, reposition on back, jaw thrust, 100% FiO2 face mask, CRM, obtain IV (ideally 2 large bore). Bag or intubate if bradycardia, hypotension and poor perfusion Rapid history - hx of seizure disorder? use of antiepileptic? allergies? Terminate seizure Tests - POC blood glucose (if <2.6, give 5g/kg dextrose - rule of 50s, eg 5 mL/kg of D10W), recheck BG q3-5min -gas with lytes give abx if suspicious for meningitis (do not delay for cx)

Answer 13

give next med if pt still seizing for 5min Benzo (IN, buccal, IM or IV if available) Repeat benzo (IV ideally) 2nd line: fospheny*, pheny, phenobarb, levetiracetam, VPA (limited availabilityin Canda) *note fospheny is the only second line drug that has IM option, all others need IV or IO try a different 2nd line (don't combine fospheny and pheny as the two 2nd line options) consider dose of pyridoxine if <18mo old consult PICU, prepare for intubation and anesthetic medication, tx for refractory status epilepticus might include midaz infusion

Answer 14

phenobarbital esp when combined with benzodiazepines (first line meds) MOA of phenobarb is similar to benzos thus may be less effective if the sz has been refractory to benzo

Answer 15

cardiac arrhythmias, bradycardia, and hypotension (need continuous BP and ECG monitoring) specific to phenytoin: - extravasation of phenytoin can result in severe subcutaneous irritation characterized by edema, discolouration, and pain distal to the site of administration (NEVER give IM) - gum hypertrophy

Answer 16

phenobarbital (but not if pt has resp depression or hemodynamic instability)

Answer 17

levetiracetam (Keppra) also a great choice for kids on many meds as it has the lease interaction with other meds (eg kids on chemo or anti-inflammatories)

Answer 18

liver disease mitochondrial disease (even suspected) <2yrs old with unexplained developmental delay

Answer 19

in case the seizure is being caused by an undiagnosed metabolic disorder trial of pyridoxine (vitamin B6) 100 mg by IV initially, then 50 mg IV/PO BID, should be considered if there is a failure to respond to antiepileptics

Answer 20

gas, lactate, lytes, glucose, CBC-D, Cx anticonsulvant levels on long term meds urine/blood tox screen serum Calcium/Mag, BUN, liver enz, ammonia consider LP if no raised ICP CT if raised ICP, focal neuro deficits, trauma

Answer 21

aggression, "Keppra rage" (20%) suicidality (rare)

Answer 22

rash hepatitis anemia

Answer 23

weight loss kidney stones

Answer 24

rash (5%) start low and go slow

Answer 25

weight gain hepatitis pancreatitis low platelets

Answer 26

renal toxicity (5%)

Answer 27

Location above gluteal fold > 2.5cm from anal verge > 5mm width across base Deep, unable to visualize base Multiple dimples tuft of hair hemangioma subcutaneous appendage if imaging comes back abN, refer to neurosurg

Answer 28

weakness or flaccid paralysis of the upper extremity diagnosed soon after birth, results from injury of one or more cervical and thoracic nerve roots (C5–T1) often a debilitating condition with long-term effects

Answer 29

*shoulder dystocia* (injury sustained with birth) *humeral/clavicle facture macrosomia (>4.5 kg) LGA fetal or birth asphyxia maternal bicornate uterus (injury sustained in utero and during descent) pre-existing maternal diabetes forceps or vacuum-assisted delivery episiotomy

Answer 30

I - Classic Erb's Palsy (C5/C6)- shoulder adducted, internally rotated, elbow extended II - Extended Erb's (C5,6,7)- same with wrist/fingers flexed ("waiter's tip") as C7 additionally involved (photo)

Answer 31

III and IV additionally have C8 and T1 injury (C5-8, T1) resulting in total palsy with complete flaccid paralysis III - no Horner IV - with Horner syndrome (C5-T1 with sympathetic chain involvement) - miosis, ptosis and anhidrosis

Answer 32

I (Classic Erb's palsy) and II (extended Erb's palsy) - recovery rates 70-95% while almost 80% of children with global C5-T1 injuries (aka III and IV) have persistent deficits at 18 mo

Answer 33

weakness contractures limb length discrepancy cosmetic deformities

Answer 34

Variable: Neuropraxia (a temporary conduction block due to interruption of the myelin sheath, with recovery of full function generally within weeks) Axonotmesis (disruption of the nerve fibers and myelin sheath, with some function returning within months but incomplete recovery) Neurotmesis (nerve disruption and avulsion of the nerve roots from the spinal cord, with no chance of recovery)

Answer 35

Prolactinoma

Answer 36

MEN type 1

Answer 37

assess for RF (eg shoulder dystocia) MSK/neuro exam: passive + active ROM, reflexes CXR and humeral XR to assess for humeral/clavicle fracture chest asymmetry or elevated hemi-diaphragm may indicate phrenic injury assess for Horner syndrome

Answer 38

Microadenoma <1cm Macroadenoma > 1cm

Answer 39

pts 3mo and older with persistent deficits refer to brachial plexus multidisciplinary health care team if recovery incomplete at 1 mo (ie active elbow extension and flexion remain absent)

Answer 40

Depends on degree of hyperprolactinemia (can cause primary or secondary amenorrhea, galactorrhea) Can cause headache Can cause delayed puberty Macroadenomas can be associated with other pituitary hormone deficiencies (particularly GH deficiency)

Answer 41

severe direct blow or shearing forces that tear small vessels in pa mater SAH rarely alone causes raised ICP SAH can cause cerebral vasospasm, cerebral hypoxia and diffuse brain swelling (DBS)

Answer 42

shearing forces (eg rapid accel-decel from MVA or non-accidental injury) leading to tearing of bridging veins in subdural space presents with depressed mental status, headache, vomiting, seizure +/- loss of consciousness at time of injury crescentic lesion on CT

Answer 43

usually nonsurgical unless severe

Answer 44

direct blow to head with skull fracture and laceration of epidural vessels classic description: initial loss of consciousness followed by "lucid interval" (although the minority of pts present this way) lethargy, vomiting, headache biconvex lesion adjacent to skull

Answer 45

immediate neurosurg consult and craniotomy with evacuation of blood

Answer 46

heterogeneous group of disorders due to a static insult to developing fetal or infant brain leading to impaired motor function (tone, posture, movement) that limit activity non-progressive, but clinical manifestations may change over time as the child develops

Answer 47

prematurity - associated with periventricular leukomalacia (PVL) or intraventricular hemorrhage (IVH) perinatal infection - most common RF for premature neonates developing CP HIE Perinatal Stroke Structural brain malformation (teratogen, intrauterine infection, genetics)

Answer 48

SPASTIC (MOST COMMON): Spastic Diplegia Spastic Hemiplegia Spastic Quadriplegia DYSKINETIC (involuntary movements): *assoc'd with HIE injury to basal ganglia Choreo-athetotic -chorea: dance-like movements -athetosis: writhing Dystonic Ataxic

Answer 49

Spastic Diplegia - bilateral legs involved -assoc'd with PVL Spastic Hemiplegia -unilateral arm usually - presents 6mo+ with early hand preference -assoc'd with perinatal Stroke Spastic Quadriplegia -all 4 limbs -usually also epilepsy, vision/cognitive issues - assoc'd severe PVL/IVH

Answer 50

involuntary movements *assoc'd with HIE injury to basal ganglia Choreoathetotic CP -chorea: dance-like movements -athetosis: writhing -assoc'd with kernicterus from hyperbili Dystonic: abN posturing Ataxic CP: clumsy, uncoordinated, slow/jerky speech

Answer 51

50% are intellectually disabled epilepsy vison and hearing problems speech disorders orthopedic problems

Answer 52

MRI - may see prior stroke, HIE, PVL or brain malformation consider genetic or metabolic testing

Answer 53

Microadenomas <1cm only treat if symptomatic Macroadenomas ALWAYS treat Treatment = dopamine agonists Cabergoline is the drug of choice Rare cases - need trans-sphenoidal surgery

Answer 54

Brief motor activity, including tonic extension of the trunk and limbs or several clonic jerks, can occur in uncomplicated syncope The severity of convulsive symptoms in syncope varies from subtle signs that are often overlooked to more dramatic symptoms that mimic an epileptic seizure. The combination of seizure-like motor activity in the setting of syncope is sometimes referred to as convulsive syncope. Convulsive syncope is usually brief (<20 seconds) Patients usually wake up quickly after a syncopal event and may recognize their surroundings within a minute or so. Prolonged confusion or lethargy lasting several minutes or longer favors seizure

Answer 55

ORTHO: monitor for... - pain (from increased muscle tone, ill-fitting brace, constipation, GERD) - hip subluxation/dislocation (consequence from delayed weight-bearing) - scoliosis (esp around pubertal growth spurt) - hypertonia (may need botulinum toxin A injection or oral baclofen if limiting function or painful) - monitor for obesity (more sedentary) -OT/PT DEVELOPMENT - vision testing (refractive errors, strabismus, and visual field loss from brain injury) - autism screen (CP kids higher risk) - psychoeducational assessment (more inattention, impulsivity, language difficulties) -Body Image/Self- esteem -SW, SLP +/- developmental pediatrician

Answer 56

ankle-foot orthosis (AFO) (increases stability with stairs and uneven surfaces, stretches hypertonic calf muscles) knee-extension splints and hand-resting splints (prevent muscle contractures) supramalleolar orthosis modified constraint therapy or hand-arm bimanual therapy railings/ramps to hold(Avoid falls)

Answer 57

"function, family, fitness, fun, friends, and future" "Promoting family and child involvement in recreational and community activities, and developing connections with inclusive local programs can build confidence and individual ability while enhancing well-being"

Answer 58

These 3 can be combined to make an accurate diagnosis before 6 mo Hammersmith Infant Neurological Examination (HINE)) Prechtl’s General Movement Assessment) MRI FYI, we can estimate gross motor trajectory based on their GMFCS category by age 2. Most of a child’s motor development has been achieved by 5 years of age

Answer 59

Selective dorsal rhizotomy (SDR) = nerve rootlets severed to reduce spasticity - best for GMFCS levels II and III implantation of a reservoir pump and catheter to deliver Intrathecal Baclofen (ITB) - best for GMFCS levels IV and V - high rates of complications (catheter dislodgement; pump malfxn) Deep brain stimulation - only for severe, refractory dystonia

Answer 60

same as GMFCS I and II, plus monitoring for: - Pelvic XR and exam q6-12 mo (hip subluxation) --> refer to ortho if >30% of femoral head uncovered by pelvis (may need soft tissue release or hip reconstructive surgery) -vit D, dietary calcium, wt bearing activities (reduce osteoporosis) - VFSS as needed for swallowing difficulty; pace intake, maintain upright position when eating, and thickened liquids to prevent aspiration

Answer 61

1st line: Oral Baclofen - side effects: constipation and sedation **rebound hypertonia if stopped abruptly if focal hypertonia, botulinum toxin A injection periodically https://www.aacpdm.org/publications/care-pathways/dystonia-in-cerebral-palsy (linked in CPS)

Answer 62

- preterm with PVL white matter injury - dyskinesia - MSK contracture - "possess antigravity muscle strength" - "Live with positive psychosocial factors (e.g., they can access and participate in a therapy program)" Benefits of SDR appear to be greatest in individuals with CP GMFCS levels II and III

Answer 63

Blank stare 5-30sec, 100s times per day +/- eyelid flutter/upward eye rolling NO post-ictal, no aura May initially be misdiagnosed as “inattention” or “learning disability” Children typically cognitively normal

Answer 64

4-7 yrs for childhood absence seizures Glut1 deficiency – EARLY ONSET ABSENCE SEIZURE (baby/toddler) – treat with keto diet

Answer 65

classic 3 Hz generalized spike and wave Increased risk of other seizure types (GTC)

Answer 66

Ethosuximide, Valproic Acid (VPA) >90% remit by adolescence

Answer 67

Child develops normally until ~3-6y, then begins to lose language function Often behave as if they are deaf initially, then stop talking >70% have clinical seizures, several types memory aid: Kleff is deaf

Answer 68

Diffuse slow spike-waves in SLEEP 1.5-2.5Hz at all slow sleep stages epileptiform discharges in temporoparietal-occipital lobes

Answer 69

Corticosteroids, IVIg VPA, Ethosuximide, clonazepam, clobazam Avoid: carbamaz/oxcarb, lamotrigine, topiramate (worsen discharges)

Answer 70

"final common pathway: for many epilepsy conditions severe, refractory epilepsy multiple seizure types, usually daily significant intellectual impairment difficult to treat

Answer 71

Refractory epilepsy starting first year of life POOR PSYCHOMOTOR DEV'T outcomes Pts have prolonged, often febrile, clonic sz in setting of normal cognitive and motor development prior to sz onset difficult to treat

Answer 72

Patients present with headaches, encephalopathy, visual disturbances, and/or seizures in the setting of high BP

Answer 73

Typically a rapid increase in blood pressure May be due to a number of causes

Answer 74

Chemotherapy or cytotoxic drugs (tacrolimus is a common agent) Kidney disease Post organ transplantation Autoimmune disease Eclampsia

Answer 75

May have visual field deficits (eg hemianopia, visual neglect, cortical blindness) May have upper motor neuron signs eg hyperreflexia, Babinski May have papilledema

Answer 76

Symmetrical white matter changes in the posterior cerebral hemispheres

Answer 77

Urgent treatment of hypertension Treat underlying etiology (eg temporarily discontinue provoking medications, treat underlying disease) Antiepileptic agents if seizures

Answer 78

Acute disseminated encephalomyelitis An entity characterized by acute presentation of encephalopathy presumed to be due to a single demyelinating/autoinflammatory event

Answer 79

Can have focal neuro deficits including motor, sensory, brain stem dysfuntion (eg dysphagia, dysarthria, oculomotor palsies) or ataxia May have seizures May present with or without fever May include other nonspecific symptoms (vomiting, behavioural changes, headache) Typically LP findings show lymphocytosis < 100 WBC

Answer 80

Viral infections (commonly a viral infection 1-8 weeks before neurologic symptoms) Immunizations

Answer 81

Diffuse lesions primarily in the cerebral white matter

Answer 82

Steroids IVIG reserved for refractory cases

Answer 83

Clinical diagnosis that is retrospective after other causes have been ruled out MRI findings can be helpful Diagnosis requires that no new clinical or MRI findings emerge 3 months or more after initial episode of ADEM

Answer 84

- MS typically will not present with fever or encephalopathy - MS can have multiple episodes of symptoms, whereas ADEM is a single episode by definition - Neuroimaging for MS tends to have more discrete white matter changes and will not involve gray or deep brain matter as it can for ADEM

Answer 85

Rapidly progressing bilateral weakness over hours to days - will typically involve legs and sometimes arms (if C-spine is involved) Most patients will have a sensory level Bowel/bladder dysfunction UMN signs: initially low tone and diminished DTRs that progress to increased tone and hyperreflexia

Answer 86

Postinfectious (West Nile virus, herpes viruses, HIV, Lyme, Mycoplasma, syphilis) CNS demyelinating disorder (MS, ADEM) Systemic autoimmune diseases (SLE, Sjogren, sarcoidosis)

Answer 87

TM: - Inflammation of the spinal cord (CNS) - Often post-infectious, autoimmune, or idiopathic - Sensory level often present - Reflexes initially normal or brisk, then decreased - Bladder/bowel dysfunction common - Cranial nerve involvement very rare - LP shows pleocytosis GBS: - Immune-mediated demyelination of the peripheral nerves. - Often follows viral or bacterial infection (e.g., Campylobacter jejuni) - Sensory loss but no sensory level - Absent DTRs early - Can have autonomic instability (eg HR) - Can have cranial nerve involvement - LP shows albuminocytologic dissociation (high protein, normal WBC)

Answer 88

thickened cauda equina and intrathecal nerve roots

Answer 89

numbness and parasthesia followed by ascending weakness absent DTRs or hyporeflexia +/- bulbar involvement (dysphagia and facial weakness)

Answer 90

Treat with IVIG (for 2, 3, or 5 days) Hastens recovery, but does not alter long term outcome Plasmapheresis and/or immunosuppressive drugs are alternatives, steroids not as effective Differential recovery if axonal vs. demyelinating

Answer 91

Myotonic dystrophy type 1 AD inheritence Anticipation: trinucleotide repeat count increases over successive generations --> next generation presents earlier

Answer 92

profound hypotonia facial diplegia poor feding arthrogryposis (congenital joint contractures - especially of the legs) respiratory failure truncal and appendicular weakness areflexia or marked hyporeflexia

Answer 93

If presenting outside the neonatal period: usually presents before age 10 Cognitive and behavioural problems Executive dysfunction Cardiac rhythm disturbances Skeletal and respiratory muscle weakness Cataracts daytime somnolence Typical pattern of weakness: facial muscles, hand intrinsic muscles, ankle dorsiflexors Myotonia: delayed relaxation after muscle contraction (grip and can't let go after handshake)

Answer 94

Meningocele - protrusion of meninges through a spinal defect, resulting in the appearance of a cyst over lumbar spine - spinal cord remains intact - usually neurologically asymptomatic Myelomeningocele: - protrusion of meninges and spinal roots through defect (cyst remains covered by meninges) - results in severe neurologic complications with variable loss of function below the spinal level of the defect

Answer 95

Latex allergy Up to 70% of patients have some type of allergy to latex (ranging from rash to anaphylaxis)

Answer 96

tumour of neural crest cells?

Answer 97

cancer of INFANCY (usually <5yrs)

Answer 98

- Neural crest cells normally make up the sympathetic ganglia and adrenal medulla - the sympathetic nervous system neurons release norepinephrine - adrenals release epinephrine NE and Epi break down in Homovanillic acid (HMA) + vanillylmandelic acid (VMA) the neuroblastoma can develop in the adrenals (50%) or anywhere along sympathetic nervous system (paraspinal, mediastinum, neck) -tumour release of HMA and VMA

Answer 99

may be somatic or germline mutation somatic (98%) heritable (2%) - familial neuroblastoma (ALK gene) - PHOX2B Neurocristopathy syndrome = Congenital neuroblastoma + Hirschsprung dz + congenital hypoventilation syndrome

Answer 100

constitutional sx: wt loss, fever, sweating, fatigue firm, fixed, non-tender abdo mass Mass may press on organs --> abdo pain, constipation, UTI, HTN (renal artery) Emergent presentations: spinal cord compression, stridor (compression from the mass), SVC syndrome Horner’s syndrome (anhidrosis, ptosis and miosis) from the mass pressing on the sympathetic nerves Paraneoplastic syndromes: - Opsoclonus-myoclonus ataxia syndrome - VIPoma - Excessive catecholamine secretion syndrome (pheo-like with HTN crisis)

Answer 101

Opsoclonus-myoclonus ataxia syndrome VIPoma Excessive catecholamine secretion syndrome (pheo-like with HTN crisis) - flushing, sweating, HTN

Answer 102

paraneoplastic syndrome associated with neuroblastoma - rapid, dancing eye movements - rhythmic jerking of the limbs - ataxia - sleep regression, irritability **opsoclonus-myoclonus ataxia is associated with LOW RISK tumours

Answer 103

IVIG, rituximab and steroids

Answer 104

neoplastic syndrome associated with neuroblastoma intractable, secretory diarrhea (persists when fasting)

Answer 105

- Spine -> muscle weakness, incontinence - Bones (50%) -> bone pain, fractures (skull fracture = racoon eyes) - Bone Marrow -> cytopenias (fatigue from anemia, bruising from low plt, infections from low neuts) - Cervical LN --> Horner syndrome - Liver mets = if large, coagulopathy - if mediastinal mass, resp distress, laryngeal nerve compression (hoarse)

Answer 106

“blueberry muffin” rash (mets to subcutaneous tissue) proptosis, “raccoon eyes” (metastasis to orbital bone) heterochromia (different colored irises) if cervical neuroblastoma

Answer 107

Urine catecholamines VMA/HVA SPECT CT (staging) Tumour biopsy/resection Metastasis Work-Up: - CBC (cytopenia in BM mets), bone marrow aspirate and biopsy - MIBG - nuclear med imaging, attaches to neuroblastoma cell receptors, looking for distant mets - LFTs

Answer 108

Low Risk / Better prognosis if: - dx <18mo (younger the better) - localized disease - hypoploidy histology - absence of MYN-C oncogene

Answer 109

Low risk = surveillance, most will regress without intervention. If localized and easily resectable, can also use surgery High risk = surgery, chemo, radiation, +/- stem cell transplant (50% survival, 5-yr survival 8%)

Answer 110

Brain disorder from de novo mutation in MECP2, leading to defective MECP2 protein which is critical to normal brain function

Answer 111

occurs in females MECP2 gene de novo mutation located on the X chromosome (thus not usually heritable) X-Linked Dominant inheritance

Answer 112

intellectual disability (mod/severe) normal development until ~18mo followed by loss of speech and purposeful hand use, stereotypical hand movement (hand-wringing or washing) gait ataxia deceleration of head growth (acquired microcephaly)

Answer 113

MECP2 molecular analysis

Answer 114

Most severe form of spinal cord dysraphism Protrusion of meninges and spina roots thorugh defect with an open lesion over the back, resulting in a direct communication between the spinal canal and the external environment High risk for CNS infections

Answer 115

Spina bifida occulta

Answer 116

Prenatal supplementation with folic acid Minimum 1mg daily, some resources say up to 5mg daily

Answer 117

Anti seizure medications

Answer 118

Chiari II malformations Neurologic disability Cognitive issues (disruptions in white matter tracts, including agenesis of corpus collosum; ADHD) Latex allergy (random but true lol) Tethered cord Hydrocephalus CNS infections Seizures

Answer 119

Obstruction Infection Overdrainage Loculated ventricules

Answer 120

1. Movement Assessment Battery for Children - 2 (MABC-2) administered by an occupational or physical therapist. MABC-2 total < 16th percentile may be indicative of DCD for children > 6 years, for children 3-5 a total score < 5th percentile is required to meet Criteria A 2. DCDQ (5-15 years) or little DCDQ (3-4 years) - parent questionnaire used to determine functional impact of motor difficulties for Criteria B 3. Standardized IQ testing to rule out intellectual disability in Criteria D

Answer 121

1. ADHD 2. ASD 3. Specific Learning Disabilities 4. Language Impairment

Answer 122

non specific markers of performance differences that usually face by age 6, non specific to DCS 1. Overflow movements: hand posturing when walking on heels or toes 2. Mirror movements: one hand copying the other when imitating a finger pattern 3. Finger agnosia: visual monitoring to copy a finger pattern when proprioceptive feedback is insufficient

Answer 123

May struggle with coordination testing (finger to nose and rapid alternating movements)

Answer 124

describes function in every day life Level I—walks without limitations, have difficulties with speed, balance and coordinating more advanced motor skills Level II—walks with limitations, able to walk on flare and familiar surfaces but will require support navigating uneven surface, crowded areas and long distance Level III—walks using a hand-held mobility device (canes, crutches, walkers that do not support the trunk) Level IV—self-mobility with limitations; may use powered mobility Level V—transported in a manual wheelchair

Answer 125

Trigger evaluation for: 1. Hand preference before 12 months 2. stiffness or tightness in the legs before 12 months 3. inability to sit by 9 months 4. persistent fisting of hands beyond 4 months 5. delays or asymmetry in movement or posture

Answer 126

1. Cognitive disability (50%) 2. Pain (75%) 3. Hip displacement (30%) 4. Seizures (25%) 5. Behavioral disorders (25%) 6. Sleep disturbances 7. Visual and hearing impairments 8. Obesity

Answer 127

Function, family, fitness, fun, friends and future

Answer 128

Intracranial Hemorrhage and Periventricular Leukomalacia

Answer 129

1. Maternal Thyroid Disease 2. Fever during labour 3. Treatment of infertility

Answer 130

Periventricular leukomalacia

Answer 131

Periventricular leukomalacia Multicysitc enceophalomalacia cortical malformations

Answer 132

Stroke - focal infarct or cortical/subcortical damage

Answer 133

Asphyxia - symmetrical scarring in putamen and thalamus Kernicterus - scarring in globus pallidus and hippocampus Mitochondrial - scarring in globus pallidus, caudate, putamen and brainstem If there is no lesion consider a dopa responsive dystonia

Answer 134

Commando Crawling Significantly delayed walking - feet held in equinovarus, toe walking Extensive hip abduction making it difficult to put on a diaper scissoring of lower extremities when held by the axilla Normal intellectual development

Answer 135

Early hand preference, arm > legs delayed walking with circumductive gait and toe walking growth arrest of extemities associated with epilepsy

Answer 136

swallowing difficulties increased tone and spasticity in all extremities flexion contractures

Answer 137

AP Hip X-Ray every 6-12 months - refer to orthopedics for > 30% of the femoral head uncovered by the pelvis

Answer 138

1. Baclofen - first line - associated with sedation, hypotonia and constipation 2. Benzodiazepine - second line and adjunct - associated with sedation and memory disturbances 3. Botox Injections - associated with fever (1-3 days), transient pain, local irritation and bruising 4. Gabapentin - treats pain as a trigger of spasticity

Answer 139

Oral or enteral Baclofen is first line Trihexyphenidyl may be used on those with isolated dystonia or co-existing sialorrhea Benzodiazepine may be used for dystonic spasms post surgery, relieving painful dystonic postures and sleep disruption Levodopa may be used as part of assessment is there is suspicion that the individual may have a dopa responsive dystonia

Answer 140

1. Clonidine (oral, enteral or transdermal) 2. Gabapentin

Answer 141

Botulinum Toxin Type A injection

Answer 142

1. Intrathecal Baclofen 2. Deep Brain Stimulation

Answer 143

compression of one of the branches of the facial nerve during labour or hypoplasia or agenesis of the Depressor Angularis Oris Muscle (DAOM) (usually left sided) or the Depressor Labii Inferioris Muscle (DLIM) (usually right sided)

Answer 144

1. primiparity 2. multiple births 3. large baby 4. difficult labour and delivery 5. forceps delivery 6. uterine tumors 7. polyhydramnios

Answer 145

evidence of mandibular asymmetry and maxillary-mandibular asynclitism (look at the gums - lower gum moving downward and the upper gum remaining horizontal)

Answer 146

- one sided downward movement of the corner of the mouth while the opposite side does not move during - Palpable thinning of the lateral portion of the lower lip on the affected side (usually present) - Normal and symmetric forehead wrinkling, closure of eyelid, nasolabial fold depth, frowning, tearing, and nostril dilatation with respiration - Normal conduction time and nerve excitability study results

Answer 147

echocardiogram can be considered if malformations are present due to high prevalence of associated anomalies - FISH for 22q11 microdeletion is necessary if echocardiogram is abnormal

Answer 148

1. Atrial septal defect 2. Ventricular septal defect 3. Patent ductus arteriosus

Answer 149

Search for other anomalies is not indicated - further investigations should be based on clinical findings, primarily cardiovascular and dysmorphology "wait and see" approach for 1 months to asses for spontaneous improvement

Answer 150

1. > 5 attacks in the last year 2. Each lasts 2-72 hours when untreated the time a child sleeps can be considered part of headache duration 3. Headache has 2 of the following characteristics (SULTANS): - Severity: Moderate-severe pain - Unilateral/bilateral - Throbbing (or pulsating) quality - Aggravated by activity 4. Plus at least one of - Nausea/vomiting - Sensitivities - Photophobia or phonophobia 5. Not better explained by another condition

Answer 151

take medication within 30 minutes, treatment within 1 hour improved pain free rates 1. Ibuprofen 10mg/kg q6h (max 600 mg), alternate or together with acetaminophen 15 mg/kg q6h, (1000 mg) OR naproxen 5 mg/kg q8-12 (max 1000 mg) 2. Triptans 3. combination triptan and OTC - more effective than monotherapy in adults

Answer 152

1. history cardiovascular disease including stroke, TIA, MI,severed peripheral vascular disease, ischemic bowel disease, coronary vasospasm (Prinzmetal angina) 2. history of cardiac accessory conduction pathway disorders including WPW 3. history of hemiplegic aura or migraine with brainstem aura

Answer 153

A. At least 2 attacks fulfilling criteria B and C B. 1 or more of the following fully reversible aura symptoms - visual - sensory - speech/language symptoms - motor - brainstem - retinal B. At least 3 of the following characteristics - at least 1 aura symptom spreads gradually over 5 or more minutes - 2 or more symptom occur in succession - each individual aura symptoms lasts 5-60 minutes - at least one aura symptoms is unilateral - at least one aura symptom is positive - the aura is accompanied, or followed within 60 minutes, by headache

Answer 154

A. At least 2 attacks fulfilling criteria B A. Aura with BOTH of the following - At least two of the following brainstem symptoms: - dysarthria - vertigo - tinnitus - hyperacusis - diplopia - ataxia - decreased level of consciousness - no motor or retinal symptoms

Answer 155

Prochlorperazine 0.15 mg/kg IV Metoclopramide 0.2 mg/kg IV Ketoralac 0.5 mg/kg IV Valproate 15 mg/kg IV Dihydroergotamine 0.5 mg/dose Q8H IV Nasal Spray

Answer 156

Lifestyle: avoid caffeine, avoid triggers, at least 1 h exercise/day, protein in AM and regular meals Pharmacological: Flunarizine, Propranolol, VPA, topiramate, amitriptyline, Onabotulinumtoxin A injection Biologics: Eptinezumab, erenumab, galcanezumab, fremanezumaub

Answer 157

1. Female sex 2. Post-pubertal status 3. Obesity 4. PCOS 5. Medications: growth hormone tx, retinoids, and tetracycline antibiotics

Answer 158

minocycline, tetracycline, and doxycycline

Answer 159

- headache - variable in severity during the day, most often more severe in the morning and exacerbated with Valsalva, lying supine, bending over or coughing - bilateral optic disc edema - nausea and vomiting - transient visual obscurations (< 30 seconds of monocular or binocular blurring or “graying out” of vision) - enlarged blind spot on visual fields - peripheral construction, nasal field loss and inferior arcuate defects - cranial nerve VI palsy - pulsatile tinnitus

Answer 160

1st line: Acetazolamide 20-25 mg/kg/day divided BID 2nd line: Furosemide (diuretic and need to monitor for hypokalemia) Topiramate can be considered in patients who cannot tolerate acetazolamide or furosemide Surgical intervention with optic nerve sheath fenestration (ONSF) is rarely necessary

Answer 161

1. transient paresthesia 2. metabolic acidosis 3. slight increase in urination 4. metallic taste to food

Answer 162

Modified Dandy Criteria 1. Signs & symptoms of raised ICP (chronic, progressive headache, nausea, vomiting, transient visual obscurations, or papilledema) 2. Absence of localizing neurologic signs except for unilateral or bilateral 6th (abducens) nerve palsy 3. CSF opening pressure > 20 cm H2O with normal composition 4. Normal to small ventricles as demonstrated on CT or MRI

Answer 163

1. tetracyclines 2. venous sinus thrombosis (superior sagittal and transverse sinuses) - increased risk of sigmoid or jugular thromboses in patients with otitis or mastoiditis

Answer 164

A: Multiple motor tics and one or more vocal tics have been present at some point during disorder, although not concurrently B: Wax and wane in frequency, but have persisted > 1 year since onset with no more than 3 consecutive months passing without a tic C: Disturbance causes marked distress and or significant impairment in social, occupational lor other important areas of functioning D: Onset before 18y E. Not caused by substance or another medical condition

Answer 165

A: single or multiple motor and/or vocal tics (ie sudden, rapid, recurrent, nonrhythmic, stereotype motor movements and vocalizations B: tics occur many times a day, nearly every day for at least 4 weeks, but for no longer than 12 consecutive months C: the disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning D: onset is before age 18 years E: disturbance is not due to the direct physiological effects of distance (eg stimulants) or general medical condition (eg Huntington disease or post viral encephalitis) F: Criteria has never been met for Tourette Disorder or chronic motor or vocal tic disorder

Answer 166

1. Male gender 2. Genetic predisposition 3. Younger age 4. Environmental Influence 5. Impaired executive functioning

Answer 167

1. OVD 2. ADHD 3. Anxiety 4. Mood Diroder 5. Sleep Disorder 6. Disruptive Behaviours (rage attacks)

Answer 168

< 6 month duration Preschool age Acute, severe onset (subarachnoid hemorrhage) Occipital location (Chiari 1 malformation) Recent head injury prior to onset Headache upon awakening recurrently Sleep-related headaches Worsens with Valsalva Lack of visual aura Pain that is difficult to describe and localize Deterioration of mental function or devt Persistent vomiting over many days Confusion, abnormal neuro exam Lack of family history of migraine Comorbid seizures

Answer 169

Definite: - New associated neurological findings (e.g. seizures, persistent abnormal gait) - New focal abnormalities on neurological exam - Papilledema

Answer 170

Headaches (morning, positional - worse when laying down) Vomiting at night (when laying down) Abdominal pain Fever Neurological changes - new weakness, sensory or cognitive changes History of previous shunt malfunctions and similar associated symptoms

Answer 171

Shunt series (skull xray, chest and abdomen) to rule out shunt tube disconnection CT or MRI to look at ventricular size and compare with previous imaging CSF sample (Neurosurgery) through subcutaneous reservoirs if suspicion of infection

Answer 172

IgG antibodies against GluN1 subunit of the NMDA Can have anti-NMDA receptor antibodies in serum as well

Answer 173

IV steroids IVIG Plasmapheresis Rituximab Should investigate for any underlying neoplastic etiology (although anti NMDA receptor encephalitis can occur without underlying tumour)

Answer 174

Timing: ADEM presents more acutely (hours to days) compared to anti-NMDA which is more subacute (weeks) Initial presentation: ADEM typically more similar to meningitis symptoms with fever, headache, altered mental status, seizures, whereas anti NMDA initial symptoms typically psychiatric (anxiety, psychosis, agitation)

Answer 175

Ovarian teratoma

Answer 176

- frequent clusters of symmetric flexion, extension or mixed spasms - typically cluster when waking up associated with developmental delay or regression

Answer 177

west syndrome - infantile spasms, hypsarrhythmia on EEG, developmental delay

Answer 178

Myoclonic jerks: sudden brief symmetrical axial flexor spasms of trunk and head lasting 1-2 seconds or “vibratory” tonic flexion of neck - May be provoked by excitement/fear; can cluster at mealtimes, often occurs during sleep. - resolves by age 5 In contrast to infantile spasms, normal physical exam, development and EEG

Answer 179

In newborns -> suspect with hypoglycemia, jaundice, microphallus, midline defects, hypopituitarism, optic nerve hypolasia Associated with developmental delay, seizures, sleep disturbance, precocious puberty, obesity, anosmia, sensorineural hearing loss and cardiac anomalies.

Answer 180

events characterized by closed eyes and both sides of body involved - usually longer duration and fluctuating course - history of mood and dissociative disorders. Occassionally psychosis, substance use, behavioural disturbances.

Answer 181

presents at 3-4 years (NOT in infancy) with toe-walking, waddling, hyperlordosis, Gower's sign, difficulty walking up stairs, delayed early gross motor skills. Often have Gastrocnemius pseudohypertrophy

Answer 182

X-linked recessive

Answer 183

- dystrophin gene mutation - CK > 10,000 - biopsy shows extensive fibrosis and increased fiber size variation

Answer 184

- Treat with corticosteroids or deflazacort 0.9mg/kg/day, slows pace of the disease and delays motor disability - monitor for dilated cardiomyopathy - ortho and PT support - resp - PFTs, monitor for hypoventilation

Answer 185

Scoliosis Respiratory failure Osteopenia Contractures End-stage dilated cardiomyopathy arrythmias

Answer 186

Previously, wheelchair by 10, bedridden by 15, death by 20s (usually as a result of progressive respiratory decline or cardiac dysfunction)

Answer 187

Focal aware or impaired awareness seizures with imp that may evolve to bilateral convulsive events; auras are common and may include epigastric rising, déjà or jamais vu, olfactory or gustatory hallucinations usually manifest with a behavioral arrest and staring and last between 30 and 120 seconds. The patients are generally unaware and unresponsive during this period +/- presence of olfactory hallucinations, other seizure auras, or ictal automatisms

Answer 188

Myasthenia gravis: chronic autoimmune neuromuscular disease that causes weakness in the skeletal muscles

Answer 189

fatigable weakness PTOSIS difficulty swallowing slurred speech DTRs may be diminished but RARELY absent unable to sustain upward gaze for 30-60 secs

Answer 190

- respiratory insufficiency, inability to suck or swallow, and generalized hypotonia and weakness

Answer 191

Antibodies to the postsynaptic AChR block, alter, or destroy the receptors for acetylcholine at the neuromuscular junction, which prevents the muscle from contracting

Answer 192

- EMG (electromyography) is more specifically diagnostic than a muscle biopsy - Anti-AChR antibodies plasma assay (inconsistent)

Answer 193

Acetylcholinesterase inhibitors (neostigmine)

Answer 194

episodic nocturnal behaviors that often involve cognitive disorientation and autonomic and skeletal muscle disturbance. include nightmares, sleep walking (somnambulism), sleep talking, hypnogogic hallucinations, and sleep paralysis;

Answer 195

10x higher in children with family history of sleepwalking development of sleepwalking is 2x higher in children with history of sleep terrors. peak prevalence 1-5 years old

Answer 196

- parental education and reassurance, healthy sleep practices, avoidance of exacerbating factors (sleep deficit and caffeine) - in sleepwalking, important to institute safety precautions (door alarms, gates, locking outside doors and windows) - scheduled awakenings is a behavioural intervention parents can use to wake their child 15 minutes BEFORE typical events occur.

Answer 197

- Regular meals (protein in the morning) & sleep, avoid caffeine, avoid food triggers, exercise (20-30 mins daily), limit screen time (>3 hours - Avoid headache triggers - Address comorbid sleep problems (e.g. delayed sleep onset, frequent night waking), mood problems, and/or anxiety - Limit use of abortive therapies to < 15x/month - headache diary

Answer 198

- combination of GERD with spastic torticollis and dystonic body movements with or without hiatal hernia AKA abnormal movements (often axial stiffening) occurring due to GERD - can be associated with apnea, staring, and minimal jerking of the extremities - Usually occur with or after feeds in a “spitty” baby

Answer 199

Child has a 30% risk of developing febrile sz if has > 2: - 1st or 2nd degree relative with a history of febrile seizures (10-20% if sib, greater if parent) - Developmental delay - Attendance at day care - Hx of >28d in NICU

Answer 200

Overall rate of recurrence: 30-35% - 50-75% of recurrences took place within 1 year of initial seizure, almost all occurred within 2 years

Answer 201

Young age at onset (age <1 year) Complex febrile seizure Hx of febrile seizures in 1st degree relative Seizure initiated by low fever

Answer 202

Generalized tonic clonic Lasts < 15 min (majority last 3-6 mins.) Does NOT recur within 24h No post-ictal abnormalities (i.e. no association with Todd’s paralysis

Answer 203

- prolonged >15 min, and/or recurs within 24h. - often focal seizure - Presence of post-ictal neurological abnormalities

Answer 204

Simple febrile seizure 1% - (2x baseline) Recurrent febrile seizures - 4% Complex febrile Multiple in 24h = 4% (8x baseline) Prolonged (>15min) = 6% (12x baseline) Focality = 30% (60x baseline) 2 features present = 25% (50x baseline) 3 features present = 50% (100x baseline) Family history of epilepsy =18% Neurodevelopmental abnormalities 33%

Answer 205

No clear guidelines EEG NOT indicated Imaging not generally necessary Consider LP (if signs of meningitis; consider in infant 6-12 months with seizure and fever w/o Hib or S pneumo immunization), EEG, neuroimaging if: Questionable fever PRIOR to sz Focal seizure H/o dev delay Abnormal neuro exam (birth marks, micro/macro-cephaly, dysmorphic features)

Answer 206

disorders are associated with antibodies against neuronal cell surface proteins and synaptic receptors involved in synaptic transmission, plasticity, or neuronal excitability.

Answer 207

antibodies against NMDA-r - mostly idiopathic, can be triggered by prescence of a tumor (ie ovarian teratoma or paraneoplastic syndrome) common 50% history of infectious prodromal symptoms, can be associated with HSV or COVID

Answer 208

psychiatric symptoms decreased verbal output sleep disorder seizures dysautonomia dystonia dyskensias rigidity

Answer 209

EEG - almost always abnormal showing epileptic activity or slowing brain MRI - nonspecific abnormal findings in 35% CSF - pleocytosis and or increased protein

Answer 210

serum and CSF cultures, brain imaging, EEG CSF autoimmune encephalitis panel Autoimmune evaluation (ANA, ANCA, complements, immunoglobulin levels) urine toxicology serum complete metabolic panel targeted metabolic evaluation as indicated thyroid studies

Answer 211

pulse methylpred 30mg/kg for 3-5 days IVIG 2g/kg with maintenance monthly +/- PLEX +/- rituximab +/- tumour removal if present 50% of patients need second line immunotherapy relapses in 15% of patients

Answer 212

most common epilepsy syndrome nocturnal focal seizures 2-3 minutes, may awaken with inability to speak ("sleep walker") may have rhytmic facial twictching and may spread to GTC

Answer 213

peak onset - 7 to 10 yrs old (range 1-14 years)

Answer 214

centrotemporal spikes = rolandic area -> corresponds to face and tongue

Answer 215

most outgrow during puberty and do not need treatment if required: keppra or carbamazepine

Answer 216

if given with dextrose, phenytoin will crystalize. Fosphenytoin is a pro drug and safe to administer IM.

Answer 217

possible chiari malformation

Answer 218

* Headaches >15 days per month (often daily) * Better (or relieved) with medication * Recurs later in day * Ibuprofen or acetaminophen >15x/mos over >3 mos

Answer 219

Muscular dystrophies are related to gene mutation that impairs muscle fibre integrity and are prone to tearing -> HIGH CK -cognitively not normal - myotonia appears later in life Congential myopathies are related to gene mutation impairing contractile unit (actin/myosin) with NO breakdown -> normal CK - often cognitvely normal and muscle weakness is non-progressive

Answer 220

26-30 weeks GA

Answer 221

- Inheritance: AR - Gene mutation: ATM (ATM is a phosphatidylinositol-3 kinase that phosphorylates proteins involved in DNA repair and cell-cycle control)

Answer 222

AGE OF ONSE: 2 yrs SYMPTOMS: - Degenerative ataxia (loss of ambulation by adolescence) - Telangiectasia (sclerae, nose, ear, extremities) - Immunodeficiency (Low Ig; frequent sinopulm infections) - Increased cancer risk (50-100 fold increased risk of lymphoreticular tumours (lymphoma, leukemia, and Hodgkin disease) and brain tumours) - Ocular findings: Strabismus. Nystagmus. Hypometric saccade pursuit abnormalities. Oculomotor apraxia with horizontal gaze. - Endocrinopathies (GH deficiency, short stature, gonadal failure (infertility)) - Extrapyramidal features - Loss of skin elasticity - Hepatosplenomegaly

Answer 223

Genetic testing = gold standard for diagnosis Other supportive features: - Clinical findings (degenerative ataxia, oculomotor apraxia, telangiectasias, immunodeficiency, inc cancer risk) - Bloodwork: High AFP, Low Immunoglobulins (low IgA, low IgG), Low CD4 Tcells - Imaging: MRI brain with cerebellar atrophy of vermis

Answer 224

** Supportive cares, no cure for AT ** Neurologic symptoms: - PHYSIOTHERAPY Cancer & Radiosensitivity: - REGULAR CANCER SCREENING (breast, ovarian, leukemia). If cancer diagnosed, standard of care protocols except avoid ionizing radiation and some chemotherapies due to increased AT cell sensitivity. Immunologic symptoms: - May require PROPHYLACTIC ANTIBIOTICS (due to propensity to frequent infections) - Can have inactivated vaccines but AVOID LIVE VACCINES - +/- consider IVIg - +/- nicotinamide riboside Future treatments: Antioxidants, antisense morpholino oligonucleotides, aminoglycoside abx (that affect ATM protein function), and small molecules targeting ATM gene (to address tumorigenesis)

Answer 225

Most common type of pediatric craniopharyngioma are adamantinomatous craniopharyngiomas due to CTNNB1 pathogenic variants. Papillary craniopharyngiomas are more common in adults. Craniopharyngiomas are usually large and heterogeneous (solid + cystic components) occurring within the suprasellar region. They are minimally invasive, adhere to adjacent brain parenchyma, and engulf normal brain structures.

Answer 226

- Endocrinologic abnormalities (MC = growth failure and delayed sexual maturation, panhypopituitarism) - Visual changes (decreased VA or visual field abnormalities, bitemporal hemianopia). Eventual vision loss.

Answer 227

Imaging: - MRI brain is best imaging modality for craniopharyngiomas, often described as a solid tumor mass with cystic structures containing fluid of intermediate density. - CT head not as helpful, may be better at demonstrating calcifications. Management: - Surgical excision if causing symptoms. Sometimes Radiotherapy.

Neurology Topic Reviews Flashcards

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