Neurology - Updated 2019! Flashcards
Child with severe trigonalcephaly. What is your management?
- sablage of metopic suture
- helmet
- place child face down
- craniostomy with removal of metopic suture
- observe
- craniostomy with removal of metopic suture
What is the most common reason for surgical intervention in a child who is born with a myelomeningocele:
a) Hydrocephaly
b) Chiari malformation
c) Syringomyelelia
d) Tethered cord
a. Hydrocephaly
Hydrocephalus with type 2 chiari in 80% (hydroceph is the reason to do surgery)
o Surgery within 1-7d (sooner if CSF leak), most require shunt, bladder catheterization, enemas
Which of the following is associated with spinal cord anomalies in a newborn:
a. anorectal anomalies
b. arthrogryposis
c. malrotation
d. dislocated hip
ANSWER:
a. anorectal anomalies
?Caudal regression syndrome (more common in IDM)
o anorectal malformation, kidneys, urinary tract, sacral abnormalities
b. arthrogryposis (congenital contractures)
d. dislocated hip in spina bifida occulta
6 mo old kid with vascular malformations of upper face. Complication you need to monitor?
a. Ipsilateral hearing loss
b. Cerebral AVM
c. Glaucoma
c. Glaucoma
Picture of a baby with right facial droop, able to wrinkle forehead, able to close eyes, normal nasalabial folds. Identify abnormality.
Asymmetric Crying Faceies (absence of depressor anguli oris muscle) - eye and forehead unaffected, compared to facial nerve palsy
A 4 month old child is observed to have positional plegiocephaly. What do you recommend to the parents?
a) encourage tummy time
b) refer to neurosurgery to rule out craniosynostosis
a) encourage tummy time
o 40% (highest incidence) at 4 months (babies can’t hold their own heads up until 4 months of age), then decreases - 3.3% at 24 months
o usually resolves by age 2-3 years
Child with facial nevus in V1 distribution. Came to the hospital with focal seizure.
What is the CT head finding expected?
Name 2 other complications.
Sturge Weber syndrome
1. Abnormal blood vessel in brain (ipsilateral leptomeningeal angioma aka leptomeningeal capillary-venous malformation)
- Abnormal blood vessel of eye (leading to glaucoma)
- visual field deficits
- focal seizures
- hemiparesis
- developmental delay
- stroke like episodes
- Intellectual disability
- Growth hormone deficiency
Four month infant who has recurrent extensor and flexor movements, preceded by a sharp cry, often in the early morning. Noted to have hypopigmented patches of skin. (1) What is your diagnosis of his acute problem? (1) What test would you use to confirm this ? What is his underlying condition (1) ? What test would you do to confirm this (1) ?
- infantile spasms
- EEG - hypsarrhythmia
- tuberous sclerosis
- MRI or genetic testing (TSC1 or TSC2 mutation)
TS Dx can be bade on genetics or clinically (Definite 2 major or 1 major and 2 minor)
Child with hypopigmented marks on his body and seizures. What is the diagnosis? How is it inherited? What test to you do to establish a diagnosis?
- tuberous sclerosis
- autosomal dominant with variable expression
- MRI +/- genetic testing
Neurofibromatosis – description of a kid with it. How many criteria need to be met to diagnose NF1? Name four of the criteria
Need two of seven:
- cafe au lait macules (6 or more): > 5mm prepubertal and >15mm post pubertal
- 2+ lisch nodules (Irish hamartomas)
- axillary/inguinal freckling
- 2+ neurofibromas
- optic gliomas
- bone changes - sphenoid dysplasia, cortical thinning of long bones, ± pseudoarthrosis
- first degree relative with NF1
A 3 and a half year old female had been developing normally, then over the past 6 months has been losing milestones. Which of the following diagnosis is this consistent with:
a. Tuberous sclerosis
b. GM-1 gangliosidosis
c. Adrenoleukodystrophy
d. MELAS
b. GM-1 gangliosidosis
Lysosomal storage disorder. GM1- neurodegeneration (ataxia, seizures, regression), HSM, cherry-red spot, skeletal deformities- AR
*Adrenoleukodystrophy- peroxisomal disorder (accumulation of VLCFA)- X-linked (boys)- females mildly affected much later.
Progressive dysfunction of adrenal cortex, central and peripheral nervous centre white matter. ADHD -> vegetative state.
MELAS (mitochondrial encephalopathy. lactic acidosis stroke like episodes) - maternally inherited, stunted growth, episodic vomiting, seizures, recurring cerebral insults. Degenerative.
TS - shouldn’t cause regression
List 4 features of Rett syndrome.
- acquired microcephaly
- hand wringing
- plateau and then regression of developmental milestones
- seizures
- scoliosis
- sighing respirations
Scenario of a child dying with metachromatic leukodystrophy who is palliative. You want to start opiods at home for pain control, What are four things/four principles you will have to consider when starting opioids?
- By Mouth : use least invasive method if possible
- By the clock: scheduled to avoid break through
- For the child: right medications tailored to ensure adequate pain relief
- Anticipate side effects
A mom comes to see you about her 2 year old previously well child who is having daily episodes where her trunk is writhing, and she becomes flushed and diaphoretic. She also grunts, and breathes rapidly during these. Mom is sure she does not lose consciousness and if she talks to her daughter, she can shorten the duration of the episode. They happen when the child is in her car seat or watching t.v. What is your next step?
a. Refer to neurology for an EEG
b. GI imaging to r/o reflux
c. Reassure mom
d. Refer to a psychologist
c. Reassure mom
Masturbation may occur in girls 2-3 yr of age and is often associated with perspiration, irregular breathing, and grunting, but no loss of consciousness
Which is an indication (most specific) of seizure activity in a neonate?
- tachycardia
- abnormal eye movements
- irregular breathing
- irritability
- abnormal eye movements
Subtle- eye deviations, nystagmus, blinking, mouthing, abnormal extremity movements, fluctuations in heart rate, hypertension, apnea
A 3 month old baby with myclonic jerks of the head and arms. What is the most likely diagnosis:
- Juvenile myoclonic epilepsy
- Benign myoclonus of infancy
- Lennox-Gastaut
- Landau-Kleffner
- Benign myoclonus of infancy - myoclonic jerks of extremities in wakefulness/ sometimes sleep, similar to shuddering attacks (rapid tremor of head, shoulder, trunk lasting a few seconds, associated with eating, recurring many times per day).
May be mistaken for infantile spasms, but EEG, MRI and development are normal. Spontaneous remission at 2-3 years.
*3. Lennox-Gastaut → Triad: difficult to control seizures, slow spike-wave EEG during awake state, mental retardation
A child in status epilepticus. HR 220, respirations difficult to assess, BP 150/80. Unable to get IV access. What to do:
- Sodium nitroprusside
- Rectal diazepam
- Intubate
- IM Dilantin
- Rectal diazepam
* then monitor for respiratory depression (more common with diazepam than lorazepam)
A 7 year old girl has had 3 episodes over the past 3 months where she awakes from sleep, has twitching of her right upper lip and is unable to verbalize for 3 minutes. What is the likely diagnosis:
a. benign rolandic epilepsy of childhood
b. juvenile myoclonic epilepsy
c. parasomnias
a. benign rolandic epilepsy of childhood
- Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS)
A 7 year old girl has had 3 episodes over the past 3 months where she awakes from sleep, has twitching of her right upper lip and is unable to verbalize for 3 minutes. What is the treatment?
Rx: clobazam, carbamazepine (can induce myoclonus), or no treatment if mild and rare
Adolescent female noted to have ?seizure post soccer game. There is a family history of seizures and the GP starts her on phenobarb prophylactically. Despite this, she has a second episode. What would you do next?
a. EEG
b. ECHO
c. Holter for 24 hours
d. ECG
e. exercise ECG
d. ECG
children with new-onset seizure disorder should get an ECG to rule out LQT syndrome masquerading as a seizure disorder.
Cardiac syncope is usually sudden without the gradual onset and the symptoms that accompany vagal syncope
All of the following can cause seizures in the neonate EXCEPT:
a) hyperkalemia
b) hyponatremia
c) hypomagnesemia
d) hypocalcemia
e) alkalosis
a) hyperkalemia
alkalosis can cause decreased ionized calcium due to increased binding of calcium to albumin
Child with absence seizures. What do you tell the parents:
a) significantly increased risk of generalized tonic-clonic seizures in the future
b) should be seizure-free within 2 years
c) will have more absence seizures as time goes on
d) increased risk of developmental delay
e) prognosis is generally poor
a) significantly increased risk of generalized tonic-clonic seizures in the future
Absence: Onset 5-8y, Offset 10-12y
▪ <4y should evaluate for glucose transporter defect (low CSF glucose) gene- GLUT-1 def
30-50% will have GTCs, often years later
What is the best medication for treating absence seizures:
a) valproic acid
b) clonazepam
c) carbamazepine
d) phenytoin
e) phenobarbital
a) valproic acid
Ethosuximide also a good option (with fewer SE than VPA)
3 month old with myoclonic jerks. No skin lesions. EEG shows disorganized background with intermittent discharges. What is the most likely diagnosis?
a. infantile spasms
b. benign myoclonus of infancy
c. familial myoclonus
a. infantile spasms (now called epileptic spasms - can happen past infancy)
- onset typically between 4-8 months of age
- underlying cause in ¾ of pt (perinatal, asphyxia, congenital, malformation, TS)
- hypsarrhythmia = high voltage b/l irregular high voltage spike + wave pattern
Parent of 2 yr with infantile spasms , DNR. Newly moved to your community. what is the management?
● Tx: vigabatrin first line (especially with TS) +/- prednisone, then maybe ACTH
o Awake and asleep EEG done 1,2, 4 wk after initiation of Vigabatrin to monitor patient’s response
o AE in higher doses: HTN, electrolyte imbalance, infections, high BG, glycosuria, gastric ulcers
Child presents with GTC of 10 minutes and is febrile. He has a history of febrile seizures.
What questions do you ask to see if he is at risk of developing epilepsy (4).
What is his absolute risk of developing epilepsy.
If he had risk factors, what would his absolute risk be of having epilepsy?
- Questions to ask: family hx of epilepsy, abnormal neurodevelopment, previous brain injury/damage, complex febrile seizures, previous afebrile seizure, age <6mos for first febrile seizure
- Simple = <15 mins, 1sz in 24h, generalized; risk of recurrence of febrile sz 30-50%, risk of epilepsy 1-2% (general population 1%)
- Risk of epilepsy if has risk factors: 20-50%
If just complex febrile Sz= 5-10%
2 year girl who has episodes of abnormal breathing and movements. Occurs when watching TV or bored. Mum can decrease length of episodes when talking to her. Episodes last 5-6 min. She seems responsive throughout the episodes. What do you recommend to do to mum
Reassurance - this is self stimulation and is normal behaviour
Kid with facial twitch in the middle of the night and drooling. Seizure pattern? A. Centro-temporal b. 3 hz spike and wave c. hypsarrhythmia d. poly spike wave
A. Centro-temporal
- seizures at night - think benign rolandic seizures/BECTS
- face twitching/can’t speak
- usually spontaneously resolve, no meds needed
Kid on longstanding phenytoin and valproic acid. Well controlled sz. Has gums so big he can’t eat, it hurts. What do you do:
a) Stop phenytoin
a) Decrease phenytoin
b) Stop valproic
c) Decease valproic
a) decrease phenytoin. Can reduce risk with folic acid + dental hygiene. May need to change drugs but probably don’t want cold turkey w/o another plan.
VPA: weight gain, tremor, alopecia, hepatic and pancreatic toxicity
Phenytoin: gingival hypertrophy, hirsutism, coarse facies, nystagmus, ataxia, liver toxicity
Child wakes up every night, ++ scared and screaming, no recollection in the morning. Parents are tired and frustrated. What to do?
a) wake him up 11:45 pm every night for a week
b) prescribe a benzo
c) refer to psychiatry
a) wake him up 11:45 pm every night for a week - kind of right… peds in review says to continue this for 2-4 weeks
Child has frightening awakenings, screams, cries. No recollection in the morning.
What is the most likely diagnosis?
a. nightmares
b. night terrors
b. night terrors
What is the most specific indication of seizures in neonate
a) tachycardia
b) abnormal eye movements
c) irregular breathing
d) Tachypnea
b) abnormal eye movements
Newborn, mom poor PNC, remote history of IVDU. Kid is having a seizure:
o Give pyridoxine
o Phenobarbital 20 mg/kg
o Morphine infusion
o Phenobarbital 20 mg/kg
*o Give pyridoxine - consider when seizures begin shortly after birth and are resistant to conventional antiepileptics
History of child waking up with garbled, confused speech. What would you expect on EEG?
a. normal EEG
b. 3 spikes/wave
c. centrotemporal spikes
d. hypsarrhythmia
c. centrotemporal spikes
benign focal epilepsy of childhood - focal motor seizures of mouth, tongue, face or upper extremity. Occur during sleep-wake transition.
What is a dysphasic aura?
least-common type of typical aura - described as an inability or difficulty to respond verbally. The patient afterwards will describe an ability to understand what is being asked, but cannot answer back . (previously called confusional migraine)
What are the two components of the symptoms seen with hypoglycemia?
- activation of autonomic nervous system and epinephrine release - anxiety, sweating, palpitations, tremor, nausea, vomiting
- cerebral glucopenia: HA, confusion, staring spells, diplopia, personality change, dysarthria, paresthesia, dizziness, lethargy, seizure, coma, stroke
Which medication do you choose to treat seizures with 3 Hz spike & wave pattern on EEG:
a) valproic acid
b) carbamazepine
c) clonazepam
d) phenytoin
a) valproic acid (absence seizures)
- ethosuximide is first line (as effective as VPA but less toxicity)
- second line is VPA and lamotrigine
8 month old child presents with seizures. He is dehydrated and his sodium is 121. What do use for treatment?
a) Ativan
b) 3% Saline
c) phenobarb
b) 3% Saline
Seizing child, decreased LOC. Best treatment?
a. intranasal midaz
b. iv valproic acid
c. iv phenytoin
d. Intubate
a. intranasal midaz
Which is the best treatment for tension headaches?
(a) acetaminophen
(b) ibuprofen
(c) codeine
(a) acetaminophen - better studied in children and better safety profile - ibuprofen is better for migraines
*** we said Ibuprofen! UTD references one study showing ibuprofen was superior
What is the most frequent cause of school absence in teenage girls:
(a) headache
(b) dysmenorrhea
(c) asthma
(d) sore throat
(b) dysmenorrhea
Teenager with migraine. Most likely to abort headache:
a. acetominophen
b. ibuprofen
c. caffeine
d. codeine
b. ibuprofen
Which of the following would be an indication for migraine prophylaxis:
- Headaches impact on daily activities
- Headaches are triggered by cold weather
- Headaches impact on daily activities
A 5-year-old boy has been experiencing constant headaches for the past 3 months. They are getting worse and are interfering with his functioning. Which diagnosis should you consider:
a ) brain tumor
b) migraine headaches
c) tension headaches
d) behavioral problem
a ) brain tumor (esp since constant)
A 10-year-old child has a history of migraine headaches. Which drug should he take at home for symptomatic relief from headaches:
a) acetaminophen
b) codeine
c) gravol
d) sumatriptan
e) maxeran
a) acetaminophen
- ibuprofen would be better option
- sumatriptan not approved for kids under 12
Which of the following is not prescribed for migraine prophylaxis:
a. propranolol
b. methylsegide
c. sumatriptan
d. phenytoin
e. amitriptyline
c. sumatriptan → abortive not prophylactic
- prophylaxis indicated for >1/wk and disabling (missing activities) >1/month
- some of these are old (methylsegide and phenytoin)
- propranolol and amitriptyline are used for prophylaxis; flunarizine is a CCB that is very effective
- neutraceuticals: Coenzyme Q10, riboflavin, Mg
Describes a child with headaches, emesis, acne, being teased at school. Exam shows papilledema. Diagnosis?
Idiopathic intracranial hypertension (pseudotumour cerebri) secondary to isotretinoin
List 3 reasons to image a child with headaches
- focal neurologic abnormalities on exam
- waking from sleep
- early morning vomiting
- headache improved with sitting up, worse with lying flat
- aura <5 minutes or >60 minutes
- brief headache only associated with bending forward or coughing
- occipital headache
- instantaneous “worst headache ever”
A 10 year old boy presents to your office with a history of waking in the mornings with a headache for the past month. He occasionally vomits with the headache. Over the past week he has started to complain of double vision, and feels that he is unsteady on his feet. What is your diagnosis?
posterior fossa tumour (most common are medulloblastoma, cerebellar astrocytoma)
Kid with abdominal migraine. Family history of migraines. What are two periodic syndromes associated with migraine development as an adult.
- cyclic vomiting syndrome, recurrent abdominal pain
- benign peroxysmal vertigo
Child with headaches interfering with function. What to prophylaxis with?
a. Amitriptyline
b. Pimozide
c. Some type of SSRI (I think Effexor)
d. Valproic acid
a. Amitriptyline
(Pimozide is a high potent antipsychotic)
Can also use VPA but has lots of reactions
What is the most common cause of childhood headaches.
a) Migraine
b) Myopia
c) Sleep disorder
a) Migraine (most frequent recurrent HA brought to medical attention)
- and tension type headaches also common childhood HA
What medications can be used for the treatment of status migrainosus?
all IV - use in ED or inpatient setting
- prochlorperazine, metoclopramide (can get EPS - have diphenhydramine ready)
- ketorolac
- dihydroergotamine
- valproate sodium injection
Which type of brain injury is most commonly seen in shaken baby syndrome?
a. epidural hemorrhage
b. subdural hemorrhage
c. intraventricular hemorrhage
b. subdural hemorrhage - most common abusive head injury
Sickle cell anemia, which is true about strokes?
a. usually subclinical strokes
b. clinical stroke
a. usually subclinical strokes
- they are ischemic, not hemorrhagic
- mgmt: blood transfusion to get hemoglobin close to but not >100
A 1 month old has a droopy lower left lip. The forehead moves normally. What is the problem:
- centrally mediated facial nerve palsy
- peripherally mediated facial nerve palsy
- congenital absence of the mouth angle depressor muscle
- congenital absence of the mouth angle depressor muscle
Congenital Absence of Depressor Angularis Oris Muscle: Facial asymmetry, especially when infant cries.
Often a/w other anomalies - especially cardiac
Is NOT a facial nerve lesion, does not interfere with feeding
Guillain Barre has been associated with which of the following infections?
a. e coli gastro
b. shigella
c. campylobacter
c. campylobacter
- occurs about 10 days following specific GI/resp infections
o GI: campylobacter jejuni , helicobacter pylori
o Resp: mycoplasma
14 year old boy with Duchenne’s, who is in a wheelchair, has recently seen his FVC fall from 30 to 21% predicted. What symptom will he most likely be complaining of?
a. Headache early in morning
b. Headaches in the afternoon
c. Tingling of his fingers
d. Dyspnea with exertion
a. Headache early in morning
In a child with myopathy, which of the following could help distinguish Dermatomyositis from Duchenne’s MD?
a) proximal muscle weakness
b) rash on face and knuckles
c) abnormal muscle enzymes
d) onset before age 5 years
e) more commonly affects girls than boys
b ) rash on face and knuckles
*d) onset before age 5 years (both usually after 5)
Criteria for JD: Classic rash (heliotrope, gottron papule) PLUS 3 of: - weakness (symmetric, proximal) - Elevated CK, AST, LD or aldolase -EMG changes -Muscle Bx w/ necrosis/inflammation
3 yo with proximal muscle weakness. You suspect Duchenne. How do you confirm the dx?
a. Dystrophin assay
b. Biopsy
c. Molecular testing
d. EMG
c. Molecular testing
- blood PCR for dystrophin gene - if positive can defer biopsy
Molecular genetic testing is indicated for patients with an elevated serum CK level and clinical findings suggestive of a dystrophinopathy. The diagnosis is established if a disease-causing mutation of the DMD gene is identified
Child with proximal muscle weakness and decreased DTR
a. Congenital myopathy
b. Peripheral neuropathy
c. Spinal cord
d. Neuromuscular junction problem
a. Congenital myopathy
Decreased DTR = LMN
Proximal muscle weakness - a muscle problem
Spinal cord = UMN, expect increased DTR
Peripheral neuropathy and NMJ would expect distal>proximal weakness
Kid with bilateral proximal muscle weakness. Dysphagia, bilateral ptosis, difficulty with upward gaze. Slow onset. Give the Dx. Gave a whole bunch of normal blood work, creat, TSH, CK was normal.
Myasthenia gravis
Dx: Hx/PE, serum autoantibodies, EMG
Tx: Acetylcholinesterase inhibitors, PLEX, IVG
Child with suspected Duchenne muscular dystrophy. What is diagnostic on biopsy (be specific)?
What 2 things do you want to know to help with genetic counseling?
- Absent dystrophin in myofibrils, myofiber necrosis, fibroblast infiltration
- X-linked, ⅔ inherited
- review 3 generation family tree
- need to know if mother is a carrier
- if plan to have more kids
- consider if mom has sisters who have or are planning to have kids
Duchene muscular dystrophy 7 year old. List 4 complications you will monitor for.
- scoliosis
- cardiomyopathy and heart failure
- weakness of swallowing muscles and aspiration
- restrictive lung disease
- contractures
Infant with symptoms of myotonic dystrophy described. Give diagnosis. (for practice, give 4 signs/symptoms of myotonic dystrophy)
Generally normal at birth, may have hypotonia
- Feeding difficulties
- characteristic facies: inverted V shaped mouth, thin cheeks, high palate, concave temporalis muscles
- DISTAL muscle wasting (different from most muscular dystrophies)
- myotonia - very slow relaxation of muscles after contraction (e.g. the handshake grip that can’t let go)
- cataracts
- heart block, hypothyroidism
Most specific finding in duchenne’s
a. pelvic girdle weakness
b. fasciculations
c. distal muscle weakness
a. pelvic girdle weakness
= proximal muscle weakness
eg. lordotic posture to compensate for gluteal weakness, gower’s sign, trendelenburg gait
17 year old male with Duchenne’s MD. His FVC has gone from 30% to 21%, what does he complain of?
a) AM somnolence
b) PM somnolence
c) dyspnea with activities
a) AM somnolence - due to hypoventilation at night
also see HA
