NEUROLOGY Flashcards
An 18-month-old turns cyanotic associated with a brief loss of consciousness that occurred during a temper tantrum
Reassurance (cyanotic breath-holding spell)
An 18-month-old turns pale with limp jerking and brief loss of consciousness that occurred after the child was scared by his sibling
Reassurance (pallid breath-holding spell)
A 4-month-old infant is having episodes of tonic
neck extension and dystonic posturing of trunk
associated only with feedings. Has a normal
neurologic exam
Sandifer syndrome
A premature infant has brief jerking of the right
upper extremity that cannot be suppressed
Neonatal seizure
A previously healthy 16-month-old boy has 60 s
generalized seizure in the setting of febrile illness (not involving the CNS) and is now acting normal
Simple febrile seizure
A previously healthy 16-month-old boy has had 2 febrile seizures in the last 24 h, and the infant is now acting normal
Complex febrile seizures
What is the recurrence risk after the first simple
febrile seizure?
Approximately 30%
What is the risk of developing epilepsy in children with simple febrile seizures?
Approximately 2%
An 8-year-old boy is having multiple brief daily
episodes of behavioral arrest and eye fluttering
with an EEG showing 3 Hz/s spike-and-wave
discharges
Absence seizure (petit mal seizure)
The first-line treatment for absence seizures
Ethosuximide
Antiseizure medication that should be avoided in women of child-bearing age due to teratogenicity
Valproic acid
A 6-month-old infant having episodes of tonic
flexion of trunk, head, and extremities, occurring in clusters
Infantile spasms
Triad of infantile spasms, hypsarrhythmia on EEG, developmental regression
West syndrome
A 3-year-old boy with a prior history of infantile
spasms who now has intellectual disability,
multiple seizure types, EEG showing slow spikewave activity
Lennox–Gastaut syndrome
An 16-year-old girl who is an excellent student has a generalized tonic-clonic seizure after a sleepover party with her friends. She also reports having jerking movements of her arms in the mornings
Juvenile myoclonic epilepsy
A 5-year-old with nighttime seizures involving the face and focal centrotemporal spikes in sleep
Rolandic epilepsy with centrotemporal spikes
A 3-year-old with language regression and
continuous spike-wave discharges in slow wave
sleep
Landau–Kleffner syndrome
A 9-year-old previously healthy girl with
intractable focal seizures as well as hemiparesis
and cognitive decline. MRI of the brain shows
atrophy of one hemisphere
Rasmussen encephalitis O. I. Naga
An infant with rapid head growth, full fontanel,
irritability, vomiting
Hydrocephalus
The most common cause of macrocephaly
Benign familial macrocephaly
An infant with failure to thrive, developmental
delay, intractable seizures with an MRI showing a “smooth brain”
Lissencephaly
Elevated maternal alpha-fetoprotein, an infant born with a large cranial defect, abnormalities of the face and eyes, without a cortex but an intact brainstem
Anencephaly
Global intellectual disability, brain MRI showing
bilateral clefts within the cerebral hemisphere
Schizencephaly
An infant with a sacral tuft of hair and normal
neurologic exam
Spina bifida occulta
MRI showing downward displacement of the
cerebellar tonsils through the foramen magnum
Arnold–Chiari malformation
Cystic expansion of the fourth ventricle in the
posterior fossa, associated with hydrocephalus,
cerebellar ataxia, and associated with corpus
callosum agenesis
Dandy–Walker syndrome
Newborn with a skull defect, a sac-like protrusion containing brain material
Encephalocele
Infant born with a short neck, very low hairline in the back of the head, and limited range of motion in the neck
Klippel–Feil syndrome
Child with a stroke-like event has MRI with the
appearance of a “puff of smoke”
Moyamoya disease
Adolescent girl presents with ptosis and double
vision and is also complaining that she feels
weaker by the end of the day
Juvenile myasthenia gravis
Preschool age boy has a history of toe walking,
frequent falls, and enlarged calves. O/E: he has
significant proximal muscle weakness, positive
Gower sign, and laboratory evaluation shows
elevated CPK (creatine phosphokinase)
Duchenne muscular dystrophy
A 10-year-old boy presents frequent falls, and
weakness for 3 months. O/E: he has mild proximal muscle weakness, and calf pseudohypertrophy and his echocardiogram shows cardiomyopathy, laboratory shows elevated serum CPK
Becker muscular dystrophy—older onset and
milder form
Group of disorders characterized by decreased
deep tendon reflexes, decreased proprioception, and a vibratory sense that is caused by defective peripheral nerve demyelination
Charcot–Marie–Tooth syndrome
Newborn infant presents with hypotonia,
respiratory distress, and facial muscle weakness. The genetic test is positive for CTG trinucleotide repeat
Congenital myotonic dystrophy
A 12-year-old girl previously healthy over few
months presents with progressive clumsiness, gait and limb ataxia, recurrent falls, rapid, jerky
movements of both eyes, areflexia, lower extremity weakness, dysarthria, and dysphagia. Positive frataxin gene sequencing, associated with cardiomyopathy and increased risk of diabetes mellitus
Friedreich ataxia—GAA trinucleotide repeat
(autosomal recessive and presents in older
children)
A 3-year-old girl presents with recurrent
respiratory infections, clumsiness, gait and limb
ataxia, recurrent falls, oculomotor apraxia,
choreoathetosis, dysarthria, and ocular
telangiectasias, and serum α-fetoprotein is elevated
Ataxia–telangiectasia (autosomal recessive and
presents in young children)—mutation of the
ATM gene
Adolescent with a history of herpes zoster presents with peripheral nerve paralysis, facial pain, and deafness
Ramsay Hunt syndrome
History of diarrhea followed by progressing
ascending weakness and loss of deep tendon
reflexes with CSF showing elevated protein
Guillain–Barré syndrome
A 4-month-old infant with severe hypotonia and
feeding difficulty. O/E: the infant is in frog-leg
position and has tongue fasciculations
Spinal muscular atrophy
Progressive weakness in legs with focal back pain, bowel and bladder dysfunction and sensory level on the exam. Eventually develops into spastic diplegia
Transverse myelitis
A 6-month-old consistently reaches for toys with
the right hand. What is the most likely underlying cause?
Central or peripheral neurologic abnormality of
the opposite side, including hemiparesis
An 18-month-old boy with a history of
prematurity, including bilateral intraventricular
hemorrhages, who is brought in for evaluation
because he is not walking and has increased tone in his legs. Scissoring of the legs is noted when he is held in a vertical position
Spastic diplegic cerebral palsy
A school-age child develops abnormal limb
movements a few weeks after a group A betahemolytic strep infection
Sydenham chorea
Child with dyskinetic cerebral palsy and a history of elevated bilirubin
Kernicterus
An 18-month-old girl with acquired microcephaly, language regression, repetitive hand-wringing movements, loss of purposeful hand use. Genetic testing reveals a mutation in the MECP2 gene
Rett syndrome
Adolescent girl is complaining of right frontal
pulsating headache with photophobia and nausea. She reports that during the headache episodes, she prefers to be in a dark, quiet room. Her father and paternal grandmother also get headaches
Migraine headache
Adolescent complaining of a mild headache
described as “band-like” around the head.
Headache is responsive to over-the-counter
analgesics
Tension headache
Adolescent girl with a BMI more than 98th %
presenting with headaches, nausea, vomiting,
double vision, papilledema, and inability to abduct her left eye. What is the most likely underlying cause?
Idiopathic intracranial hypertension
(pseudotumor cerebri)
A 1-year-old girl presents with an increasing
number of café-au-lait spots all over her body. She has more than 6 macules, each macule measuring more than 5 mm. The rest of the exam is normal. No family history of neurofibromatosis. What is the next best step?
Referral to a pediatric ophthalmologist to check
for Lisch nodules annually
The child in the previous example is positive for
Lisch nodules. What are the recommendations?
Genetic consultation, annual pediatric
ophthalmology evaluation, regular
developmental assessment, and regular blood
pressure monitoring
Multiple café-au-lait spots, Lisch nodules on
ophthalmology exam, and presence of multiple
neurofibromas
Neurofibromatosis type 1
Autosomal dominant
Presents with ringing in the ears; imaging shows
bilateral vestibular schwannomas
Neurofibromatosis type 2
Autosomal dominan
A 10-month-old infant presents with infantile
spasms and is noted to have multiple
hypomelanotic macules (ash leaf spots). MRI brain shows cortical tubers
Tuberous sclerosis complex
History of port-wine stain, seizures, and glaucoma
Sturge–Weber syndrome
Child presenting with chronic back pain, lower
extremity weakness, leg length discrepancy, foot deformities, scoliosis, neurogenic bladder, and recurrent urinary tract infections. There is no acral hair or skin abnormalities in the lower back
Tethered cord syndrome
The child with a ventriculoperitoneal (V/P) shunt
with a triad of high fever, focal neurologic deficits, and headache
Shunt infection—possible brain abscess
Toddler refusing to walk or stand, with back
tenderness and elevated ESR
Diskitis
What is the first-line therapy for tic disorder with no other complications?
Behavioral modification
Child with recurrent throat clearing, facial grimacing, and grunting, but otherwise acting
normal
Tic disorder (Tourette syndrome if symptoms
> 12 months)
An infant with nystagmus, titubation, and
torticollis
Spasmus nutans
A teenager with excessive daytime sleepiness,
sudden episodes of loss of muscle tone and
hallucinations when going to sleep
Narcolepsy
A 9-year-old has a sudden onset of severe
abdominal pain, becomes pale, feels dizzy, and her vision slowly goes black followed by loss of
consciousness for a few seconds and quick return to baseline
Vasovagal syncope
The reflex that appears around 8–9 months in
preparation for a child to stand and walk
Parachute reflex
