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 60s 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 24h, 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 3Hz/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
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 3months. 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
Newborn infant presents with hypotonia, respiratory distress, and facial muscle weakness. The genetic test is positive for CTG trinucleotide repeat
Congenital myotonic dystrophy
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
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
Child with dyskinetic cerebral palsy and a history of elevated bilirubin
Kernicterus
A school-age child develops abnormal limb movements a few weeks after a group A betahemolytic strep infection
Sydenham chorea
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 5mm. 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 dominant
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
Toddler refusing to walk or stand, with back tenderness and elevated ESR
Diskitis
The child with a ventriculoperitoneal (V/P) shunt with a triad of high fever, focal neurologic deficits, and headache
Shunt infection—possible brain abscess
Child with recurrent throat clearing, facial grimacing, and grunting, but otherwise acting normal
Tic disorder (Tourette syndrome if symptoms >12months)
What is the first-line therapy for tic disorder with no other complications?
Behavioral modification
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 8–9months in preparation for a child to stand and walk
Parachute reflex
