Pediatric Neurology Flashcards
Absence seizures may be differentiated from inattentive staring spells by the presence of […].
Absence seizures may be differentiated from inattentive staring spells by the presence of automatisms.
e.g. lip smacking, eyelid fluttering
Are absence seizures associated with a post-ictal period?
No
important distinguishing feature from focal seizures with impairment of consciousness
Are craniopharyngiomas benign or malignant?
Benign
Craniopharyngiomas commonly […], which is visible on imaging.
Craniopharyngiomas commonly calcify, which is visible on imaging.
Friedreich ataxia patients often have […] (foot type) with hammer toes.
Friedreich ataxia patients often have pes cavus (foot type) with hammer toes.
Generalized seizures may be differentiated from syncopal episodes by the presence of a […] state.
Generalized seizures may be differentiated from syncopal episodes by the presence of a post-ictal state.
i.e. transient sleepiness and/or confusion after regaining consciousness
Guillain-Barre syndrome results in inflammation and […] of peripheral nerves and motor fibers.
Guillain-Barre syndrome results in inflammation and demyelination of peripheral nerves and motor fibers.
Homocystinuria causes increased risk for […] and atherosclerosis, which may cause stroke and MI.
Homocystinuria causes increased risk for thrombosis and atherosclerosis, which may cause stroke and MI.
due to increased serum homocysteine; significant morbidity and mortality are due primarily to thromboembolism
Homocystinuria may present with […] disability, osteoporosis, and kyphosis.
Homocystinuria may present with intellectual disability, osteoporosis, and kyphosis.
intellectual disability is an important distinguishing feature from Marfa
Homocystinuria typically presents with subluxation of the lenses […] and […]. (direction)
Homocystinuria typically presents with subluxation of the lenses downward and inward. (direction)
versus marfan syndrome which is usually upward and temporally
Infant botulism is caused by ingestion of […], which are found in environmental dust and honey.
Infant botulism is caused by ingestion of Clostridium botulinum spores, which are found in environmental dust and honey.
California, Pennsylvania, and Utah have the greatest concentration of soil botulism spores
Infant botulism is caused by ingestion of Clostridium botulinum spores, which are found in […] and honey.
Infant botulism is caused by ingestion of Clostridium botulinum spores, which are found in environmental dust and honey.
California, Pennsylvania, and Utah have the greatest concentration of soil botulism spores
Intraventricular hemorrhage is most commonly seen in […] and […] infants.
Intraventricular hemorrhage is most commonly seen in premature and low-birth-weight infants.
screen all infants younger than 30-32 weeks with ultrasound; bleeding usually originates from the germinal matrix
Is Sturge-Weber syndrome inherited or sporadic?
Sporadic (somatic mosaicism)
Medulloblastoma is a posterior fossa tumor of childhood that typically arises from the […]. (location)
Medulloblastoma is a posterior fossa tumor of childhood that typically arises from the cerebellar vermis. (location)
thus, symptoms may include truncal/gait ataxia, signs of increased ICP, and/or obstructive hydrocephalus (due to proximity to the 4th ventricle)
Neonatal intraventricular hemorrhage may be complicated by […] hydrocephalus. (communicating or non-communicating)
Neonatal intraventricular hemorrhage may be complicated by communicating hydrocephalus. (communicating or non-communicating)
accumulation of blood in the subarachnoid space can irritate arachnoid villi, impairing CSF absorption
Neurofibromatosis I is associated with optic glioma and […]. (eye findings)
Neurofibromatosis I is associated with optic glioma and Lisch nodules (pigmented iris harmatomas). (eye findings)
Neurofibromatosis type […] is also known as von Recklinghausen disease.
Neurofibromatosis type I is also known as von Recklinghausen disease.
Neurofibromatosis II is associated with juvenile […].
Neurofibromatosis II is associated with juvenile cataracts.
Neurofibromatosis […] is associated with juvenile cataracts.
Neurofibromatosis II is associated with juvenile cataracts.
Niemann-Pick disease may be differentiated from Tay-Sachs disease by the presence of […]-reflexia and the […] of hepatosplenomegaly.
Niemann-Pick disease may be differentiated from Tay-Sachs disease by the presence of hypo-reflexia and the presence of hepatosplenomegaly.
both diseases classically have a “cherry-red” spot on the macula
Parinaud syndrome often results from a tumor of the […] gland.
Parinaud syndrome often results from a tumor of the pineal gland.
pineal gland masses may also cause obstructive hydrocephalus (e.g. papilledema, headache, vomiting)
Patient’s with suspected Guillain-Barre syndrome should have their pulmonary function assessed with serial […].
Patient’s with suspected Guillain-Barre syndrome should have their pulmonary function assessed with serial spirometry.
FVC is the gold standard for assessing ventilation; decline in FVC (especially)
Pilocytic astrocytoma is a […], well-circumscribed tumor of astrocytes.
Pilocytic astrocytoma is a benign, well-circumscribed tumor of astrocytes.
Pilocytic astrocytomas are most often found in the posterior fossa, such as the […]; may be supratentorial.
Pilocytic astrocytomas are most often found in the posterior fossa, such as the cerebellum; may be supratentorial.
PO2 […] cerebral perfusion pressure only when < 50 mmHg.
PO2 increases cerebral perfusion pressure only when < 50 mmHg.
Signs of shaken baby syndrome include bilateral […] hemorrhages and neurological abnormalities (e.g. seizures, AMS).
Signs of shaken baby syndrome include bilateral retinal hemorrhages and neurological abnormalities (e.g. seizures, AMS).
typically involves a history given by the caregiver that is inconsistent with developmental age
Sturge-Weber syndrome is a developmental anomaly of neural crest derivatives due to somatic […].
Sturge-Weber syndrome is a developmental anomaly of neural crest derivatives due to somatic mosaicism.
Sturge-Weber syndrome is caused by an activating mutation in one copy of the […] gene.
Sturge-Weber syndrome is caused by an activating mutation in one copy of the GNAQ gene.
Tay-Sachs disease may be differentiated from Niemann-Pick disease by presence of […]-reflexia and the […] of hepatosplenomegaly.
Tay-Sachs disease may be differentiated from Niemann-Pick disease by presence of hyper-reflexia and the absence of hepatosplenomegaly .
both diseases classically have a “cherry-red” spot on the macula
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:
S: Sporadic, […]
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: Retardation (intellectual disability)
G: Glaucoma, GNAQ gene
E: Epilepsy
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:
S: Sporadic, port-wine Stain
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: Retardation (intellectual disability)
G: Glaucoma, GNAQ gene
E: Epilepsy
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:
S: Sporadic, port-wine Stain
T: […]
U: Unilateral
R: Retardation (intellectual disability)
G: Glaucoma, GNAQ gene
E: Epilepsy
S: Sporadic, port-wine Stain
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: Retardation (intellectual disability)
G: Glaucoma, GNAQ gene
E: Epilepsy
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:
S: Sporadic, port-wine Stain
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: […]
G: Glaucoma, GNAQ gene
E: Epilepsy
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:
S: Sporadic, port-wine Stain
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: Retardation (intellectual disability)
G: Glaucoma, GNAQ gene
E: Epilepsy
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:
S: Sporadic, port-wine Stain
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: Retardation (intellectual disability)
G: […], GNAQ gene
E: Epilepsy
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:
S: Sporadic, port-wine Stain
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: Retardation (intellectual disability)
G: Glaucoma, GNAQ gene
E: Epilepsy
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic “STURGE”:
S: Sporadic, port-wine Stain
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: Retardation (intellectual disability)
G: Glaucoma, GNAQ gene
E: […]
S: Sporadic, port-wine Stain
T: Tram track calcifications (opposing gyri)
U: Unilateral
R: Retardation (intellectual disability)
G: Glaucoma, GNAQ gene
E: Epilepsy
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: […]
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: […]
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: […]
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: […]
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: […]
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: […]
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, […]
The characteristics of tuberous sclerosis may be remembered with the mnemonic “HAMARTOMAS”:
H: Hamartomas in CNS and skin
A: Angiofibromas (adenoma sebaceum)
M: Mitral regurgitation
A: Ash-leaf spots (hypopigmented macule)
R: cardiac Rhabdomyoma
T: Tuberous sclerosis
O: autosomal dOminant
M: Mental retardation (intellectual disability)
A: renal Angiomyolipoma
S: Seizures, Shagreen patches
Treatment of homocystinuria involves […] supplementation and antiplatelets/anticoagulation.
Treatment of homocystinuria involves vitamin (B6, B9, B12) supplementation and antiplatelets/anticoagulation.
Tuberous sclerosis is a neurocutaneous disorder associated with […], which are flesh-colored lumps emerging from nail folds.
Tuberous sclerosis is a neurocutaneous disorder associated with ungual fibromas, which are flesh-colored lumps emerging from nail folds.
What cause of intellectual disability is associated with small palpebral fissures, smooth philtrum, and thin vermillion border?
Fetal alcohol syndrome
What cutaneous findings are associated with neurofibromatosis I?
[…] and cutaneous neurofibromas (peripheral nerve sheath tumors)
What cutaneous findings are associated with neurofibromatosis I?
cafe-au-lait spots and cutaneous neurofibromas (peripheral nerve sheath tumors)
patients may also have axillary freckling
What cutaneous findings are associated with neurofibromatosis I?
What cutaneous findings are associated with neurofibromatosis I?
cafe-au-lait spots and cutaneous neurofibromas (peripheral nerve sheath tumors)
patients may also have axillary freckling
What feature of tuberous sclerosis is seen in the image below?
Angiofibromas (adenoma sebaceum)
What feature of tuberous sclerosis is seen in the image below?
Ash-leaf spots (hypopigmented macule)
What feature of tuberous sclerosis is seen in the image below?
Shagreen patches (patches of localized leathery thickenings)
What inherited disorder is caused by expansion of GAA trinucleotide repeats in the frataxin gene?
Friedreich ataxia
What is commonly the cause of death in Friedreich ataxia?
Hypertrophic cardiomyopathy
Friedreich ataxia also may cause staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, hammer toes, and diabetes mellitus
What is the first-line pharmacotherapy for absence seizures?
Ethosuximide
valproic acid is a second-line treatment due to increased risk of side effects
What is the greatest risk factor for development of cerebral palsy?
Prematurity
What is the likely diagnosis in a child that presents with hemiparesis and aphasia hours after falling down with an object in their mouth?
internal carotid artery dissection or thrombus formation
can also occur with neck manipulation (e.g. sports, chiropractic manipulation)
What is the likely diagnosis in a child that presents with multiple staring episodes accompanied by head tilting and mouth chewing, followed by a transient period of confusion?
Focal seizure with impairment of consciousness
previously known as complex partial seizure; may present with motor, sensory, or autonomic symptoms +/- automatisms
What is the likely diagnosis in a child that presents with unilateral hemiparesis that self-resolved within four hours following a seizure?
Todd paralysis
other causes of paralysis should be ruled out if there is no clear history of a preceding seizure (e.g. CT scan/MRI to evaluate for stroke)
What is the likely diagnosis in a child with a history of tetralogy of Fallot and recurrent sinusitis that presents with a two-week history of worsening morning headaches, fever, and a recent first-time seizure?
Brain abscess
congenital heart disease and recurrent sinusitis are important predisposing factors for brain abscess
What is the likely diagnosis in a newborn that develops scalp swelling limited to one cranial bone several hours after birth?
Cephalohematoma (subperiosteal hemorrhage)
most cases do not require any treatment and resorb spontaneously within 2 weeks to 3 months; versus caput succedaneum, which is a soft tissue swelling that can cross suture lines
What is the likely diagnosis in a non-dysmorphic infant that presents with bilateral lower extremity hypertonia and hyperreflexia with equinovarus deformities of both feet?
Cerebral palsy (spastic diplegia subtype)
CP is a disorder of non-progressive motor dysfunction; other subtypes of cerebral palsy include dyskinetic and ataxic
What is the likely diagnosis in a previously healthy infant that presents with constipation, bilateral ptosis, and a “floppy” head?
Infant botulism
What is the likely diagnosis in an infant that becomes cyanotic and experiences transient loss of consciousness after crying from an upsetting event?
Cyanotic breath-holding spell
the other subtype of breath-holding spell, pallid, typically occurs after minor trauma
What is the mode of inheritance of homocystinuria?
Autosomal recessive
What is the most common sequelae of bacterial meningitis in children?
Hearing loss
thus all children with meningitis should have audiologic screening and developmental follow-up
What is the next step in management for a child that presents to the ED after a transient simple febrile seizure?
Reassurance
What is the next step in management for a child that presents to the ED with signs of mild traumatic brain injury (TBI)?
head CT without contrast or observation for 4 - 6 hours
signs of mild TBI include GCS score of 13 - 15, loss of consciousness for < 5 minutes, headache, and vomiting
What is the next step in management for an infant that experienced a breath-holding spell?
Reassurance
breath-holding spells are considered normal development
What is the next step in management for an infant that presents with poor feeding, a bulging anterior fontanelle, and increasing head circumference?
CT scan of the head
CT preferred in a symptomatic child; MRI is preferred if the patient is stable and asymptomatic to spare radiation exposure
What is the treatment of choice for infant botulism?
Human-derived botulism immune globulin
What pathology is associated with an enlarged jaw, testes, and ears?
Fragile X syndrome
patients may have features of autism and/or ADHD with speech and motor delays
What psychiatric comorbidities are associated with absence seizure?
ADHD and anxiety
Which cause of intellectual disability is characterized by prominent jaw, large ears, and macroorchidism?
Fragile X
Which intracranial hemorrhage commonly presents in premature infants within the first 72 hours of life?
Intraventricular hemorrhage
screen all infants younger than 30-32 weeks with ultrasound; bleeding usually originates from the germinal matrix (highly vascularized layer of the brain that starts disappearing at 28 weeks gestation)
Which lysosomal storage disease is caused by deficiency of hexosaminidase A?
Tay-Sachs disease
Which lysosomal storage disease is caused by deficiency of sphingomyelinase?
Niemann-Pick disease
Which lysosomal storage diseases are associated with a “cherry-red” spot on the macula?
Niemann-Pick and Tay-Sachs disease
Which neurocutaneous disorder is associated with cafe-au-lait spots, cutaneous neurofibromas, and Lisch nodules?
Neurofibromatosis I
Which type of generalized seizure is characterized by a blank stare?
Absence seizures
[…] seizures originate from a single cerebral hemisphere.
Focal seizures originate from a single cerebral hemisphere.
may secondarily generalize, causing loss of consciousness and automatisms
[…] is a trinucleotide repeat disorder that causes degeneration of the cerebellum and multiple spinal cord tracts.
Friedreich ataxia is a trinucleotide repeat disorder that causes degeneration of the cerebellum and multiple spinal cord tracts.
look for a patient with a combination of neurologic, skeletal, and cardiac disease (e.g. ataxia, scoliosis, hypertrophic cardiomyopathy)
[…] is a metabolic disorder that may present with marfanoid habitus.
Homocystinuria is a metabolic disorder that may present with marfanoid habitus
typically caused by cystathionine synthase deficiency
[…] is a neurocutaneous disorder associated with a port-wine stain of the face (nevus flammeus).
Sturge-Weber syndrome is a neurocutaneous disorder associated with a port-wine stain of the face (nevus flammeus.
non-neoplastic birthmark
Absence seizures are characterized by […] Hz spike-and-wave discharges on EEG.
Absence seizures are characterized by 3 Hz spike-and-wave discharges on EEG.
[…] seizures are characterized by 3 Hz spike-and-wave discharges on EEG.
Absence seizures are characterized by 3 Hz spike-and-wave discharges on EEG.
Absence seizures are easily provoked by […].
Absence seizures are easily provoked by hyperventilation.
[…] seizures are easily provoked by hyperventilation.
Absence seizures are easily provoked by hyperventilation.
Parinaud syndrome is characterized by bilateral eyelid retraction and paralysis of […] due to a lesion in the superior colliculi (e.g. stroke, hydrocephalus, pinealoma).
Parinaud syndrome is characterized by bilateral eyelid retraction and paralysis of conjugate vertical gaze due to a lesion in the superior colliculi (e.g. stroke, hydrocephalus, pinealoma).
may also have absent pupillary light reflex and with normal accomodation due to proximity of the superior colliculus to the pretectal nuclei
[…] syndrome is characterized by bilateral eyelid retraction and paralysis of conjugate vertical gaze due to a lesion in the superior colliculi (e.g. stroke, hydrocephalus, pinealoma).
Parinaud syndrome is characterized by bilateral eyelid retraction and paralysis of conjugate vertical gaze due to a lesion in the superior colliculi (e.g. stroke, hydrocephalus, pinealoma)
may also have absent pupillary light reflex and with normal accomodation due to proximity of the superior colliculus to the pretectal nuclei
