Neurology Flashcards
Clinical signs of hydrocephalus
- Bulging fontanel
- Sundowning
- Poor feeding/vomiting
- Lethargy
- Increasing head circumference if fontanels are not closed
- Stridor/apnea, vocal cord dysfunction
What are classic signs of Juvenile myoclonic epilepsy (Janz Syndrome)?
• EEG: 4-6 Hz spike and slow wave, polyspike and slow wave discharges
- Presentation is in early adolescence; myoclonic jerks in the morning, causing patient to drop things
- Generalized tonic clonic seizures upon awakening
- Juvenile absence seizures
- Triggers: Sleep deprivation, alcohol, photic stimulation
What is the most common cause of acute onset ataixa?
Acute cerebellar ataxia
suspected autoimmune mechanism in response to viral infection 2-3 weeks after initial illness
A child presents at age 2 with ataxia that does not self resolve, difficulty with horizontal gaze and frequent sino-pulmonary infections. What is the suspected condition?
Ataxia telangiectasia (though the telangiectasias may not present until middle childhood)
Must confirm with alpha-fetoprotein and genetic testing
A child presents with lower limb weakness, ataxia, nystagmus, absent DTR and hypertrophic cardiomyopathy. What is the suspected condition and what is the genetic basis behind this condition?
Friedrich’s Ataxia
Trinucleotide repeat expansion (GAA) which results in oxidative stress injury in the mitochondria of cells of the spinocerebellar tracts, dorsal columns in the spinal cord, the pyramidal tracts, and the cerebellum and medulla
In which situations is antiepileptic medication less likely to be discontinued?
- Mesial temporal lobe sclerosis
- Lennox-gastaut
- Severe myoclonic epilepsy
What adverse effects are to be expected for Carbemazepine?
- Hyponatremia
- SJS/allergy
- Aplastic anemia/leukopenia
- Neural tube defects if mother is pregnant
What adverse effects are expected for Valproic acid?
- Hepatotoxicity
- Hair loss
- Pancreatitis
- Thrombocytopenia
- Weight gain
What adverse effects are expected for Topiramate?
- Kidney stones
- Anhydrosis
- Parasthesias
- Weight loss
- Mental slowing
- Glaucoma
What adverse effects are expected for Clobazam?
- Hyperactivity
- Drowsiness
- Drooling
What adverse effects are expected for Lamotrigene?
- Rash
* SJS/TENs
What adverse effects are expected for Levetiracetam?
• Aggressive behaviour
What adverse effects are expected for Phenytoin?
- Gingival hypertrophy
- Hypertrichosis
- Fetal Hydantoin Syndrome (Fetal Dilantin Syndrome)
- Interactions with Septra (decreased clearance)
What is the classic triad expected for botulism?
- Intact sensorum
- Descending paralysis
- Absence of parasthesias
Will also see: parasympathetic involvement i.e. dry mucous membranes, constipation, blood pressure instability, urinary retention
What treatment is required for suspected botulinum toxicity?
- IV Ig botulinum toxin within 3 days
- Supportive management to maintain respiration and safe nutrition
- Fecal botulism spores/toxin detection for confirmation
What treatments are available for treatment of sialorrhea?
- Supportive: Bibs, bandanas, etc
- SLP: Oral motor skills & sensory awareness (#1 most effective if >cognitive abilities
- Anticholinergics 1st line
- Opthalmic atropine drops SL
- Glycopyrrolate (enteral)
- Transdermal scopolamine patches
AE: Urinary retention, vomiting, constipation, blurry vision, xerostomia (dry mouth); intolerance in 30%
- Surgical: If mod-severe, unresponsive to Tx for 6+mo:
- Botox injections
- Salivary duct ligation, ablation, duct removal
What nerves are involved in an Erb Palsy?
Erb-Duchenne-Type Injury (C5, C6 +/- C7 = “plus”)
“Waiter’s tip” position - limp arm, pronated wrist, internal rotation
• Most common type
• Consider phrenic nerve injury (“C3, 4, 5 keeps the diaphragm alive”)
What nerves are involved in a Klumpke Palsy?
Klumpke-Dejerine Injury (C8-T1)
- Sensory (ulnar side of hand) deficit
- “holding the towel” position - paralysis of extensors of forearm & flexors of wrist & intrinsic muscles of hand :. Absent grasp
- +/- Horner syndrome (if 1st thoracic root involved) & cervical sympathetic damage – ipsilateral ptosis & miosis
What is the prognosis for most brachial plexis injuries?
- Erb’s Palsy - most likely spontaneous resolution
- Klumpke Palsy - most likely spontaneous resolution; seek surgery if not improved by 3 months
- Phrenic nerve palsy - most likely spontaneous resolution; seek surgery if not improved by 3 months
What are the 2 types of breath holding spells?
1) Pallid
• caused by reflex vagal-cardiac bradycardia and asystole
• Child usually has “silent” cry with marked pallor
2) Cyanotic / “blue”
• Does not occur during inspiration; results from prolonged expiratory apnea and intrapulmonary shunting
What is the most common form of craniosynostosis?
Premature closure of the sagittal suture, resulting in long skull i.e. dolicocephaly/scaphocephaly
• More common in boys
What syndromes are associated with craniosynostosis?
- Apert syndrome - coronal suture closure
* Crouzon syndrome - clover-leaf, mostly F, closure of coronal sutures
What are the features of a febrile seizure?
- Pt is between 6 months and 6 years of age
- Generalized tonic-clonic seizure
- lasts 15 mins
- only one seizure within 24 hours
What is the change that a child with a febrile seizure will develop epilepsy?
- 2-7% of children with febrile seizure will develop epilepsy later in life (Nelson’s)
- 1-2% risk as per Uptodate
What are the risk factors for recurrence of febrile seizures?
- Major: age <1 yr, duration of fever <24 hrs, fever 38-39 C
* Minor: fmhx of febrile sz, fmhx of epilepsy, complex febrile sz, daycare, M, low serum Na
Which infectious agents are more likely to cause Guillain Barre Syndrome?
- Campylobacter jejuni
- H. flu for Miller-Fisher syndrome
- Mycoplasma pneumoniae
What features on LP are to be expected in a case of Guillain Barre?
- High protein (up to twice the upper limit of normal
- No WBC/pleocytosis
- Normal glucose
- Negative bacterial/viral cultures
What is Miller Fischer Syndrome?
Rare variant where instead of ascending weakness, patients have external/internalopthalmoplegia, ataxia and areflexia with distal paresthesias
What investigative features are expected in cases of GBS?
- MRI will show thickened cauda equina
- EMG will show reduced nerve conduction velocities and signs of acute denervation of muscle
- mildly elevated CK
- May be able to detect antiganglioside antibodies (anti-GM1 and GD1)
What features distinguish tick bite paralysis from Guillain Barre?
- Tick Bite paralysis rarely occurs with a picture of ascending weakness, consider if there is diplopia, dysphagia or dysarthria, drooling or localized paralysis
- Recovery is swift after removal of tick (within hours)
What are some causes of idiopathic intracranial hypertension?
- Drugs: OCPs, minocycline, steroids
- Hypervitaminosis A
- Metabolic disorders: galactosemia
- Obesity
- SLE
What are the classic features of IIH?
- Chronic, worsening frontal headache that changes with posture or Valsalva maneuver
- Transient visual obscuration, diplopia
- Pulsatile tinnitus
- Photopsia (flashing lights)
- Retrobulbar pain
What are some red flags symptoms of headaches?
- Abnormal focal signs/symptoms
- Headaches associated with seizures
- Unusual headaches in children (occipital location, basilar, hemiplegic headaches)
- Acute secondary headache
- Headache worsened with cough
- Migraines in a child with no family history, cyclical vomiting or motion sickness
What are the main features of spasmus nutans?
- Pendular nystagumus (fine, rapid, horizontal)
- Head nodding
- Torticollis
What type of syncope is associated with hair combing, surprise, micturiation/defecation or breath holding?
Neurocardiogenic
What condition should be suspected in the case of multifocal clonic seizures in the first few days of life?
Pyridoxine dependent seizures
What are the classic findings in infantile spasms?
- Hypsarrhythmia - high voltage, slow background, chaotic EEG pattern
- Symmetric, bilateral, brief and sudden contractions
- May see findings consistent with tuberous sclerosis
- Treatment of choice is vigabitran or ACTH
What condition should be considered in the case of prolonged or atypical febrile seizures?
Dravet syndrome
• Also consider in cases of vaccine encephalopathy
• Onset in infancy
• AD inheritance
• Unilateral clonic seizures that develop into myoclonus, atypical absence, and partial seizures in the second year of life
• Associated developmental delay usually follows
What conditions should you consider in an infant presenting with seizures that demonstrate a burst suppression pattern on EEG?
Ohtahara Syndrome
Infant child with myoclonic jerking between 3-8 months of life; parents state usually occurs around meal time. What condition do you suspect and what is expected on EEG?
If EEG is normal, benign myoclonic epilepsy of infancy
How do you distinguish central vs. peripheral facial nerve palsy?
- Peripheral should involve the entire face and forehead as in Bell’s palsy
- If innervation to the forehead and eyebrow is preserved, consider central cause
This occurs because the dorsal tracts of the facial nerve (which innervate the forehead) cross the brainstem several times whereas the ventral portions cross only once, so if the lesion is within the brainstem, there is greater chance of rescue for the dorsal tracts than if the lesion was present outside of the brain stem
What findings are expected in the case of Bell’s palsy?
Unilateral facial drop involving the corners of the mouth, forehead and eyelid. May be unable to close the eyelid completely. Lack of taste in the anterior 2/3 of the tongue is also common, as is decreased tear production and hyperacusis
What is the expected prognosis of children with Bell’s Palsy?
- 85% full recovery
- 10% mild, persistent facial weakness
- 5% permanent severe facial weakness
Potential causes of optic neuritis?
- Nutritional deficiencies i.e. vitamin B12
- Toxic ingestion i.e. Lead, vincristine, methanol, ethambutol
- Inflammatory disorders i.e. SLE, sarcoidosis, Bechet
- Infectious causes i.e. meningitis, TB, syphillis, Lyme disease
What is the risk of developing MS following one episode of optic neuritis in childhood?
20% by age 20
What is the diagnostic criteria for multiple sclerosis?
• Evidence of demyelination without encephalopathy, localizing to distinct CNS regions, lasting longer than 24 hours and separated by more than 30 days
DDx: ADEM, NMO
What is unique to MS with respect to lumbar puncture results?
Oligoclonal bands
What are the main features of myasthenia gravis?
Chronic autoimmune disease of the NMJ that results in fatigability of the striated muscles
• Think weakness of the hands, extraocular muslces and those involved in swallowing
How is myasthenia gravis diagnosed and treated?
- EMG - decremental response to repetitive nerve stimulation
- Treatment: steroids, thymectomy (to remove anti-Ach receptor antibodies), IV Ig, plasmapharesis, Neostigmine (q 4-6 hours and before meals)
- In infants, give Neostigmine before meals while awaiting maternal antibodies to resolve within 3-10 wks
What are the characteristics of Charcot-Marie-Tooth Disease?
- Clumsiness that develops in late childhood/early adolescence with weakness of dorsiflexion and foot drop
- Stork-like appearance due to wasting of the anterior compartment of the lower legs and high arched feet
- Tingling and burning sensation felt in feet
- 17p11.2 gene locus - peripheral myelin protein 22
What condition reveals onion bulb formation of the Schwann cell cytoplasm on nerve biopsy?
Charcot-Marie-Tooth
will need molecular genetic confirmation by blood for confirmation
What are the 4 types of cerebral palsy?
- Hemiplegic (25%) - focal infarct, stroke/infection/bleed
- Spastic diplegic (35%) - PVL, large ventricles, prematurity
- Spastic quadripletic (20%) - PVL, ischemia/infection
- Athetoid (15%) - asphyxia, kernicterus, mitochondrial/genetic disease
Risk factors for cerebral palsy?
- Prematurity
- Multiple births
- Early pregnancy loss i.e. of twin increases risk 60x
- Low birth weight
- Maternal infection
- Early childhood infection (particularly if meningitis)
- Hyperbilirubinemia
- Hypoxia
What complications must be monitored for in children with CP?
- Malnutrition/aspiration/poor feeding
- Contractures
- Urinary retention
- Osteopenia (no weight bearing)
- Injury/fractures
- Scoliosis
- Dislocated hips
- Pressure sores
- Mental health
- Sleep disorders/muscle spasms
What is Postural Orthostatic Tachycardia Syndrome (POTS)?
Transient increase of at least 40 bpm in the first 10 mins of upright tilt test without associated hypotension
• must have DAILY orthostatic symptoms
What is the best diagnostic test for confirmation of Spinal Muscular Atrophy?
- Genetics: SMN1 and SMN2 genes are both located on 5q13), homozygous deletion of SMN1 gene results in SMA. SMN2 produces a shortened unstable SMN mRNA through alternative splicing, thus disease severity is predicated on SMN2 copy numbers
- SMA1 - 2 functional copies of SMN2
- SMA 2 - 3 copies
- SMA 3-4 - 3-4 copies
- EMG may help
- CK will be normal to elevated
What is the risk of a recurrent myelomeningocele after the first affected child? The second?
- 3-4%
* 10%
How much folic acid should women of child bearing age be taking to mitigate risk of meningocele/myelomeningocele?
- 0.8-4.0 mg / day
* up to 5.0 mg / day if high risk
What steps should be taken in the management of a baby with a known myelomeningocele?
- Application of moist, sterile saline soaks
- Keep the child off of their back
- Avoid contact with latex materials (anaphylactic)
- Consider antibiotics
- Call neurosurgery
- Admit and monitor for signs of hydrocephalus i.e. bulging fontanelle, dilated scalp veins, sunsetting eyes, vomiting, increased HC
What lifelong conditions should a child with spina bifida or myelomeningocele be followed for?
- Hydrocephalus and shunt dysfunction
- Development/LD (math, visual-spatial reasoning, executive function and processing speed)
- Latex anaphylaxis (needs MedicAlert and EpiPen)
- Neurogenic bladder
- Neurogenic bowel
What are the characteristic facial features seen in children with myotonic dystrophy?
- Inverted V-shaped upper lip
- Thin cheeks
- Concave temporalis muscles
- Narrow face
- High palate (owing to weak temporal and pterygoid muscles in late fetal life)
- Frontal balding, cataracts, arrhythmias, diabetes as an adult
What is the genetic basis for myotonic dystrophy?
CTG repeat expansion on Chromosome 19q13.3 or CCTG expansion on Chromosome 3q21
What other features aside from progressive wasting of the distal muscles is seen in cases of myotonic dystrophy?
- Arrhythmias/heart block leading to cardiomyopathy
- Endocrinopathies - DM, adrenocortical insufficiency, hypothyroidism, delayed puberty, testicular atrophy
- Cataracts
- Immune deficiencies
- Intellectual disability
Quick facts about Absence seizures
- EEG: 3 Hz generalized spike and wave pattern
- Best AEM: Ethosuximide, followed by VPA and LMT
- DO NOT GIVE carbamazepine, phenytoin, vigabatrin
Migraines without aura
“54321 rule”
- 5 episodes minimum
- 4 hours to 3 days in duration
- 2/4 of the following:
- unilateral
- pulsating
- moderate/severe pain
- aggravation by routine physical activity leading to avoidance
- 1/2 of the following:
- N/V
- Phonophobia/photophobia
What features are seen in a Migraine with aura as compared to without?
- Only need a history of 2 attacks
- The aura must involve reversible attacks of visual,sensory, speech/language symptoms with no brainstem or retinal symptoms (otherwise, considered to be Basilar migraine)
What are the different types of Somatic Symptom Disorder?
• Somatic symptom disorders:
• Distressing physical symptoms
• Excessive thoughts, feelings or behaviours in relation to these symptoms
• (NOT an absence of medical explanation to somatic symptoms)
• Disorders:
1. Conversion d/o
2. Somatic symptom disorder
3. Factitious disorder (+/- by another)
4. Psychological factors affecting other medical conditions
5. Other specified/unspecified somatic symptom disorder
What is the DSM criteria for Conversion Disorder (Functional Neurologic Symptom Disorder)?
- A. One or more symptoms or deficits affecting voluntary motor or sensory function
- B. Clinical findings provide evidence of incompatibility between the symptom and recognized neurologic or medical conditions
- C. The symptom or deficit is not better explained by another medical or mental disorder
- D. The symptom or deficit causes clinically significant distress or impairment in social, occupational or other important areas of functioning or warrants medical evaluation
What strategies should be implemented to evaluate growth of a wheelchair-bound child with cerebral palsy?
- Segmental measurements to estimate height
- Upper arm circumference
- Caliper measurements for estimating body fat
- Assisted standing with help of a parent
- Dietitian assisting with calorie-count and inputs/outputs
What management strategies should be offered to families when a child has confirmed diagnosis of SMA?
- Genetic counselling
- Ventilation support, chest physio and preventative measures re: respiratory illness i.e. Flu shot
- G-tube/NG tube feeding
- Ortho/OT/PT team to assist with tx of contractures or scoliosis
- Gene therapy
- Nusinersen (antisense oligonucleotide used to increase SMN2 gene product quantity)
A child presents in status migrainosus, what treatment should you offer them?
- Hydration (IV/PO)
- Treatment of nausea (metocloprimide, odansetron, gravol)
- Pain control: ketoralac, NSAIDs, Tylenol
- Abortive medications for mod-severe headaches (Triptan medication - rizatriptan, VPA, dihydroergotamine)
What are some long-term management strategies for migraines?
- Lifestyle changes: sleep hygiene, avoidance of dehydration, prolonged fasting and caffeine
- Stress reduction
- Supplementation: Mg, coenzyme Q, Vitamin B2, butterbur
- Flunarizine (only in Europe)
- Amytriptyline (1 mg/kg/day at dinner)
- Toperamate, VPA, Keppra/Leviteracetam, Gabapentin
- Propranolol (contraindicated in allergic disorders and asthma)
