Neurology Flashcards
Juvenile Myoclonic Epilepsy
Myoclonic jerks of the upper extremities on awakening and generalized tonic-clonic seizures, and in some cases, a history of absence seizures.
4-6 Hz spike changes
Tx: Valproic Acid
- Phenytoin, Oxcarbazepine and carbamazepine can worsen seizures in JME
Myoclonic Epilepsy with Ragged Red Fibers
Myoclonus -> generalized epilepsy, weakness, ataxia, and dementia. Usually onset after normal early childhood development
Also hearing loss, poor growth, optic atrophy, and cardiomyopathy.
Dx: Skeletal muscle biopsy = ragged red fibers
Inheritance: mitochondrial disorder
- Passed down from mom to ALL children
- Not passed down from dads (sperm mito is destroyed)
Phenobarb - half life and when to check
Phenobarb = LONG half life 20 to 133 hours
Levels reach steady state in about 5 half-lives, so if first checked and it’s subtherapeutic, don’t raise dose until you check again if everything else is fine.
Rett vs Angelman
Rett:
- decline in head growth
- loss of language
- hand wringing and loss of purposeful hand movt’s
- seizures
- X-linked DOMINANT disorder = GIRLS
Angelman: deletion/loss of maternal contribution to 15
- lifelong microcephaly (has always been small)
- no language skills (vs. regression)
- gait ataxia
- happy personality
Guillan-Barre vs. Botulism
Guillan Barre
- ASCENDING weakness with areflexia
- Affects the peripheral nerves.
- Weakness starts in feet/ankles (tripping, weak dorsflexion,, difficulty rising from chair, weakness in hands)
- NEED TO ASSESS RESP FXN with NEG inspiratory force assessment!!
- Cerebrospinal fluid studies often show high protein with normal white blood cell count (cytoalbuminological dissociation)
Botulism
- DESCENDING weakness + mydriasis
- affects neuromuscular junction
Chronic back pain with lower extremity weakness
Sign of spinal cord disorder (myelopathy) such as tethered cord
Tethered cord: leg length discrepancy, foot deformities, scoliosis, neurogenic bladder, recurrent UTIs
VS. Becker muscular dystrophy = disorders of the muscle and motor neuron. Muscle weakness with hyporeflexia.
Risk of seizure
25-40% in developing child, with a nl EEG and MRI of brain
Infant Botulism
Ingestion of clostridium botulinum spores
- honey, home canned foods, dust (construction, farms)
leads to germination and toxin release in intestines
Toxin blocks release of AcH from neuromuscular junction.
Sx: poor feeding, excessive drooling, weak suck and cry, bulbar palsies, constipation, resp failure
Paralysis IS DESCENDING with rapid onset
Tx: Botulism antitoxin (IgG)
What antiseizure medications can you take while taking OCPS?
**Keppra** Ethosuximide Gabapentin Zonisamide Valproic acid - but this has risk of spina bifida and craniofacial abnormalities if taken with 1st trimester
These are safe bc you don’t have induction of hepatic microsomal enzymes that cause failure of OCPs.
IUDs and implants not affected.
Emergency contraception needs larger dose
Everyone should get folic acid supplementation to reduce risk of neural tube defects
Hyperammonemic encephalopathy occurs with which AED?
Valproic acid
- related to either onset of therapy or increase in dose
Hyponatremia associated with which AED?
Carbamazepine or Oxcarbazepine
Cluster Headache treatment
Abortive: 100% O2
Prophylactic: Verapamil.
If this is uneffective, then lithium, glucocorticoids, or topiramate.
Duchenne’s vs. Becker’s
Duchenne’s
- X-linked recessive, but can spontaneous too
- Onset is earlier 2-6 years.
- Lose ambulation by 10-12 yrs. Death by 20 yrs
- Gower’s, pseudohypertrophy, falling
- Super high CK.
- muscle biopsy shows variation in fiber size, connective tissue proliferation, Type 2B fiber deficiency, and absent dystrophin.
- Death usually due to resp insufficiency or cardiac complications
- Diagnosis: Genetics (don’t need the muscle biopsy if showing the DMD gene)
Tx: pred and PT - but these do not change outcome, only symptomatic.
Beckers
- later in childhood 5-10 yrs
- usually still ambulatory by 15. Death in 30-40s
- muscle biopsy - Type 2B and dystrophin are present (but diminished)
EEG Patterns
Absence - 3 Hz spike and wave
Juvenile Myoclonic Epilepsy - 4-6 Hz polyspike and wave pattern. Usually presents in adolescence wiht myoclonic and or GTC seizures
Chiari Malformations vs. Dandy Walker
Chiari I: descent of cerebellar tonsils in foramen magnum
Chiari II: descent of cerebellar vermis, 4th ventricle, medulla.
=> suboccipital headaches, gait abnormality, hydrocephalus
=> Type II is more likely to be assocaited with associated with syrinogmyelias and myelomeningocele
Dandy-Walker => enlargement of the 4th ventricle and absence of cerebellar vermis
Risk of spina bifida
Risk of NTD is 0.1%.
Risk to subsequent siblings is 2-3%
Valproic acid increases risk to 1% (10 fold)
Juvenile Myoclonic Epilepsy
Adolescence
Myoclonic seizures (uni/bilateral single or repetitive, irregular myoclonic jerks "twitches" of the extremities) OR GTC seizures
4-6 Hz generalized polyspike and slow wave discharge
Klippel-Feil Syndrome
Congenitally fused cervical vertebrae
- short neck, low hairline, limited ROM of neck, toriticollis
Also associated with:
- failure of the scapula to descend to normal position
- atlantoaxial instability
- scoliosis
- neural tube defects and neurological deficits
- GU/renal probs = needs US
- CHD
- haering loss, cleft palate, intellectual disability
Neural Tube Defects
- elevated levels of AFP
- valproic acid or carbamazepine in mothers
What symptom is more likely to be seen in children with migranes compared to adults?
Bilateral pain
Red Flags for headaches and indications for head imaging
- auras > 1 hr
- persistent neurologic findings
- predominantly occipital headaches
- decline in cognitive function
- change in headache pattern
- abrupt onset/thunderclap
Benign Epilepsy with Centrotemporal Spikes
Benign Rolandic Epilepsy of Childhood
Seizures: usually when asleep
- simple partial seizure, usually of the face (facial numbness, twitching, guttural vocalizations, drooling, dysphagia, difficulty with speech)
- can generalized into a GTC during sleep
- if seizures happen during awake - they are aware but can’t speak
EEG: biphasic centrotemporal sharp waves
Prognosis is good with spontaneous remission by 12 yrs
Tx only if having frequent generalized seizures interfering with activity
Dominant = + FHX
Tourette’s Diagnosis
- presence of multiple motor and vocal tics for a least 1 year
- no tic-free interval lasting > 3 months
- onset prior to 18 years of age
- no underlying medical cause
Eye cranial Nerves
CN 4 (trochlear) = SO superior oblique CB 6 (abducens) = LR lateral rectus CN 3 (oculomotor) = everything else
Recti muscles = move eye in same direction
Oblique = opposite direction
ex: SO = down and out and IO = up and out
Myotonic Dystrophy
Autosomal dominant
muscles have “slow relaxation after contraction.”
esp in the hand = myotonia
characteristic facies and appearance of sadness
Smooth and cardiac muscles also affected - Cards and GI probs
Endocrine problems
CK may be normal.
Trisomy 21 boy with increased LE tone and hyperreflexia
Atlantoaxial instability causing spinal cord compression
Normally T21 at baseline is hypotonic and hyporeflexia. So these symptoms are new.
Spinal cord compression can also cause new-onset limb spasticity, hyperreflexia, bowel or bladder incontinence, torticollis, or neck pain.
Syncopal Convulsions
Brief convulsions that can occur after syncope of any cause; they are not epileptic seizures
- compared with GTC seizures, these are shorter in duration, usually lasting only a few seconds
- no post-ictal period
- convulsions occur AFTER person has LOC not at the same time as in GTCs
Ex: Hair grooming syncope
Tx: increase fluid and salt intake like in vasovagal syncope
Cataplexy
sudden emotions, such as fright or laughter, cause a collapse of the body, but consciousness is preserved
Dx: Polysomnography with multiple sleep latency test
Benign Rolandic Epilepsy
Focal seizure of face and ipsilateral arm
- drooling, child cannot speak, repetitive chewing or swallowing
- usually occur during sleep
EEG: perirolandic (centrotemporal) spikes
Seizures resolve spontaneously by age 16 to 18 so you don’t need treatment most of the time.
Long term complications of bacterial meningitis
Developmental Delay
Intellectual disability
Hearing impairment
Epilepsy, Spasticisty, Hemiparesis
Tick Paralysis
Presents exactly like Guillian Barre
(ascending proximal paralysis and areflexia).
But is due to the tick - toxin in ticks’ saliva blocks transmission across NMJ
Once tick is removed, weakness will resolve.
Chorea
Among children in the United States, the most common cause of chorea is Sydenham chorea.
When Sydenham chorea has been ruled out as a cause of chorea, further evaluation may include magnetic resonance imaging of the brain, testing for hyperthyroidism, and testing for pregnancy when appropriate.
Chorea gravidarum is chorea that occurs during pregnancy and resolves afterwards.
Hereditary Hemorrhagic Telangiectasia
Autosomal Dominant - refer to Genetics
AVMs in brain, lungs, liver, GI tract, pancreas, spinal cord
Telangiectasias in skin/mucosa
Cerebral arteriovenous malformations are often clinically silent until there is an intracranial hemorrhage.
A vein of Galen aneurysmal malformation can present in the neonatal period or in infancy with congestive heart failure because of the large blood volume that is shunted directly back into the right heart.
Treatment of Bell’s Palsy
Oral steroids.
Acute CN VII palsy - work up for underlying causes
- infection: AOM, meningitis, Lyme, HIV, VZV, HSV
- trauma
- structural lesions in brain
- granuloma disease (TB, sarcoid)
For child with 1st instance of bell’s palsy without other symptoms/risk factors, further diagnostic testing may not be necessary
Tuberous Sclerosis is associated with what
Infantile spasms* (usually tx vigabatrin)
Developmental delay
Shagreen patch, Ash-leaf spots, Angiofibromas
Eyes: retinal hamartomas
Brain: Tubers, Subependymal astrocytomas
Heart: rhabdomyomas
Kidneys’: angiomyolipomas, renal cysts, hamartomas
Autosomal Dominant with incomplete penetrance
Migrane vs. Pseudotumor Cerebri
Similar to migranes BUT it is associated with
- transient visual obscurations (due to ICP)
- tinnitis
- diplopia (CN VI palsy)
Risk factors for IIH:
- obesity, female sex
- doxy, minocycline
- vitamin A (isotretinoin not topical retinoids)
- GH
Normal opening pressure = 10-28
Empiric treatment of brain abscess
Vanco + CTX + metronidazole
OR
Vanco + Mero
Empiric antibiotics must cover pathogens associated with acute and chronic sinusitis such as Staphylococcus aureus (including methicillin-resistant S aureus), pneumococcus, nontypeable Haemophilus influenzae, Moraxella catarrhalis, group A Streptococcus, and anaerobes.
SMA vs. Botulism
Spinal muscular atrophy presents in infancy with head lag; weak, hypotonic limbs; areflexia; paradoxical breathing; tongue fasciculations; and finger trembling. The muscles of facial expression are spared**
Infant botulism presents with a prodrome of
constipation, followed by ptosis, decreased facial movements, head lag, and choking or aspiration. Limb weakness is less prominent early in the course.
Tethered Cord vs. Transverse Myelitis
Tethered Cord
- Chronic progression (as child grows, spinal cord stretched)
- back pain with LE weakness
- scoliosis, leg length discrepancy
Transverse Myelitis
- ACUTE process associated with infection
Marcus Gunn phenomenon (jaw-winking)
Simultaneous eyelid blinking during sucking-jaw movements.
Due to abnormal innervation of trigeminal (controlling muscles of mastication) and oculomotor (blinking)
Most common cause of CP
Prematurity/Low birth weight
VS: then infection, intrapartum asphyxia, genetic/met
Asian girl with seizures who presents with intracranial bleed and MRI showing dilated collateral vessels = what disease
MoyaMoya
- bilateral stenosis or occlusion of the distal carotid arteries and arteries around circle of willis
- THEN arterial collateral vessels and account for hazy angiographic appearance of vascular collateral network “puff of smoke”
Seizure Meds Adjustment Principles
Therapeutic ranges are established as guidelines, which represent serum levels that are typically necessary to control seizures. The upper limits also serve as an aid to reduce symptomatic side effects. Serum drug levels should not be used in isolation to guide therapy as the therapeutic range is different for individual patients
Keep meds the same if doing fine.
Only consider wean if they have been seizure free for 2 years. EEG only needed if considering to wean or seizures are worse, not if he’s doing fine.
Neuro PREP review
2017: 5, 6
2019: 1
GBS next step
Negative inspiratory force measurement!!! WTF
Friedrich ataxia
Friedreich ataxia = autosomal recessive
- GAA repeat expansion in the frataxin gene on chromosome 9
- childhood onset - gait and limb ataxia/clumsiness
- areflexia, lower extremity weakness
- dysarthria, dysphagia
- eye movement abnormalities such as abnormal saccades (rapid jerky movements of both eyes)
- cardiomyopathy
- diabetes mellitus, and bladder dysfunction
AED side effects
Phenytoin usage = gingival hypertrophy, rash, ataxia, and agranulocytosis.
Levetiracetam = behavior changes like emotionality and irritability.
Gabapentin = dizziness and somnolence.
Valproic acid = alopecia, dizziness, hyperammonemia, tremor, and weight gain.
Oxcarbazepine - hyponatremia
Benign Paroxysmal Vertigo of Childhood
- self-limited condition (though symptoms may last 2–3 years) that causes sudden episodes of vertigo in children, usually between 1 and 4 years of age.
The attacks last a few minutes and can be distinguished from seizures by the maintenance of alertness during the episode.
Benign paroxysmal vertigo is thought to be an early childhood periodic syndrome that may be a precursor to migraine.
Benign Neonatal Seizures
Peaks at 4–6 days of life (so have been referred to a “fifth day fits”).
An idiopathic seizure syndrome that usually resolves within 24-48 hours.
Long term prognosis is excellent. Remits spontaneously.
T21 with hypodense region on CT and inability to move LUE.
hypodense = infarct
Likely due to Moya Moya
Infantile Spasms
Hypsarrhythmia - high-voltage, asynchronous, chaotic, slow wave and spike activity in all cortical areas
Typical seizure activity, which often follows arousal, includes spasms, characterized by a sudden flexion and adduction of the extremities, along with simultaneous flexion of the neck and trunk.
Usually presents within 1st year of life
an individual spasm is usually ≤ 10 seconds in duration, the majority of infantile spasms occur in clusters with several spasms during a single cluster.
Prognosis is poor, with only a small minority of patients able to achieve normal developmental milestones. Mortality rates as high as 30% have been reported.
The mainstay of medical treatment of infantile spasms is therapy with adrenocorticotropic hormone (ACTH) or vigabatrin
Topiramate Side effects
Acute angle closure glaucoma
