Pediatric Neurology Flashcards
1
Q
Absence seizures may be differentiated from inattentive staring spells by the presence of […].
A
Absence seizures may be differentiated from inattentive staring spells by the presence of automatisms.
e.g. lip smacking, eyelid fluttering
2
Q
Are absence seizures associated with a post-ictal period?
A
No
important distinguishing feature from focal seizures with impairment of consciousness
3
Q
Are craniopharyngiomas benign or malignant?
A
Benign
4
Q
Craniopharyngiomas commonly […], which is visible on imaging.
A
Craniopharyngiomas commonly calcify, which is visible on imaging.
5
Q
Friedreich ataxia patients often have […] (foot type) with hammer toes.
A
Friedreich ataxia patients often have pes cavus (foot type) with hammer toes.
6
Q
Generalized seizures may be differentiated from syncopal episodes by the presence of a […] state.
A
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
7
Q
Guillain-Barre syndrome results in inflammation and […] of peripheral nerves and motor fibers.
A
Guillain-Barre syndrome results in inflammation and demyelination of peripheral nerves and motor fibers.
8
Q
Homocystinuria causes increased risk for […] and atherosclerosis, which may cause stroke and MI.
A
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
9
Q
Homocystinuria may present with […] disability, osteoporosis, and kyphosis.
A
Homocystinuria may present with intellectual disability, osteoporosis, and kyphosis.
intellectual disability is an important distinguishing feature from Marfa
10
Q
Homocystinuria typically presents with subluxation of the lenses […] and […]. (direction)
A
Homocystinuria typically presents with subluxation of the lenses downward and inward. (direction)
versus marfan syndrome which is usually upward and temporally
11
Q
Infant botulism is caused by ingestion of […], which are found in environmental dust and honey.
A
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
12
Q
Infant botulism is caused by ingestion of Clostridium botulinum spores, which are found in […] and honey.
A
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
13
Q
Intraventricular hemorrhage is most commonly seen in […] and […] infants.
A
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
14
Q
Is Sturge-Weber syndrome inherited or sporadic?
A
Sporadic (somatic mosaicism)
15
Q
Medulloblastoma is a posterior fossa tumor of childhood that typically arises from the […]. (location)
A
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)
16
Q
Neonatal intraventricular hemorrhage may be complicated by […] hydrocephalus. (communicating or non-communicating)
A
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
17
Q
Neurofibromatosis I is associated with optic glioma and […]. (eye findings)
A
Neurofibromatosis I is associated with optic glioma and Lisch nodules (pigmented iris harmatomas). (eye findings)
18
Q
Neurofibromatosis type […] is also known as von Recklinghausen disease.
A
Neurofibromatosis type I is also known as von Recklinghausen disease.
19
Q
Neurofibromatosis II is associated with juvenile […].
A
Neurofibromatosis II is associated with juvenile cataracts.
20
Q
Neurofibromatosis […] is associated with juvenile cataracts.
A
Neurofibromatosis II is associated with juvenile cataracts.
21
Q
Niemann-Pick disease may be differentiated from Tay-Sachs disease by the presence of […]-reflexia and the […] of hepatosplenomegaly.
A
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
22
Q
Parinaud syndrome often results from a tumor of the […] gland.
A
Parinaud syndrome often results from a tumor of the pineal gland.
pineal gland masses may also cause obstructive hydrocephalus (e.g. papilledema, headache, vomiting)
23
Q
Patient’s with suspected Guillain-Barre syndrome should have their pulmonary function assessed with serial […].
A
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)
24
Q
Pilocytic astrocytoma is a […], well-circumscribed tumor of astrocytes.
A
Pilocytic astrocytoma is a benign, well-circumscribed tumor of astrocytes.
25
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.
26
PO2 [...] cerebral perfusion pressure only when \< 50 mmHg.
PO2 **increases** cerebral perfusion pressure only when \< 50 mmHg.
27
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
28
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**.
29
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.
30
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
31
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
32
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
33
The characteristics of Sturge-Weber syndrome may be remembered with the mnemonic "STURGE":
## Footnote
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
34
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
35
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**
36
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
37
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
38
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
39
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
40
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
41
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
42
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**
43
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: [...], 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
44
The characteristics of von Hippel-Lindau disease may be remembered with the mnemonic "HARP":
H: [...]
A: Angiomatosis (e.g. cavernous hemangiomas in skin, mucosa, organs)
R: Renal cell carcinoma
P: Pheochromocytoma
The characteristics of von Hippel-Lindau disease may be remembered with the mnemonic "HARP":
H: **Hemangioblastomas in retina, brain stem, cerebellum, spine**
A: Angiomatosis (e.g. cavernous hemangiomas in skin, mucosa, organs)
R: Renal cell carcinoma
P: Pheochromocytoma
45
The characteristics of von Hippel-Lindau disease may be remembered with the mnemonic "HARP":
H: Hemangioblastomas in retina, brain stem, cerebellum, spine
A: Angiomatosis (e.g. cavernous hemangiomas in skin, mucosa, organs)
R: [...]
P: Pheochromocytoma
The characteristics of von Hippel-Lindau disease may be remembered with the mnemonic "HARP":
H: Hemangioblastomas in retina, brain stem, cerebellum, spine
A: Angiomatosis (e.g. cavernous hemangiomas in skin, mucosa, organs)
R: **Renal cell carcinoma**
P: Pheochromocytoma
46
The characteristics of von Hippel-Lindau disease may be remembered with the mnemonic "HARP":
H: Hemangioblastomas in retina, brain stem, cerebellum, spine
A: Angiomatosis (e.g. cavernous hemangiomas in skin, mucosa, organs)
R: Renal cell carcinoma
P: [...]
The characteristics of von Hippel-Lindau disease may be remembered with the mnemonic "HARP":
H: Hemangioblastomas in retina, brain stem, cerebellum, spine
A: Angiomatosis (e.g. cavernous hemangiomas in skin, mucosa, organs)
R: Renal cell carcinoma
P: **Pheochromocytoma**
47
The incidence of neonatal intraventricular hemorrhage may be reduced by preventing preterm labor and administering antenatal maternal [...].
The incidence of neonatal intraventricular hemorrhage may be reduced by preventing preterm labor and administering antenatal maternal corticosteroids.
48
The NF1 tumor suppressor gene normally codes for neurofibromin, a negative regulator of [...].
The NF1 tumor suppressor gene normally codes for **neurofibromin**, a negative regulator of RAS.
49
Treatment of homocystinuria involves [...] supplementation and antiplatelets/anticoagulation.
Treatment of homocystinuria involves **vitamin (B6, B9, B12)** supplementation and antiplatelets/anticoagulation.
50
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.
51
What astrocyte-derived CNS tumor is associated with tuberous sclerosis?
Subependymal giant cell astrocytomas
52
What cause of intellectual disability is associated with small palpebral fissures, smooth philtrum, and thin vermillion border?
Fetal alcohol syndrome
53
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
54
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
55
What feature of tuberous sclerosis is seen in the image below?
Angiofibromas (adenoma sebaceum)
56
What feature of tuberous sclerosis is seen in the image below?
Ash-leaf spots (hypopigmented macule)
57
What feature of tuberous sclerosis is seen in the image below?
Shagreen patches (patches of localized leathery thickenings)
58
What inherited disorder is caused by expansion of CGG trinucleotide repeats in the FMR1 gene?
Fragile X syndrome
59
What inherited disorder is caused by expansion of GAA trinucleotide repeats in the frataxin gene?
Friedreich ataxia
60
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
61
What is the first-line pharmacotherapy for absence seizures?
Ethosuximide
valproic acid is a second-line treatment due to increased risk of side effects
62
What is the greatest risk factor for development of cerebral palsy?
Prematurity
63
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)
64
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
65
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)
66
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
67
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
68
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
69
What is the likely diagnosis in a previously healthy infant that presents with constipation, bilateral ptosis, and a "floppy" head?
Infant botulism
70
What is the likely diagnosis in an adolescent that presents with recurrent episodes of bifrontal headache accompanied by nausea and photophobia?
Migraine
migraines in children are often bifrontal and of shorter duration; first-line treatment in children includes acetaminophen or NSAIDs (triptans may be used as a second-line treatment)
71
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
72
What is the mode of inheritance of Friedreich ataxia?
Autosomal recessive
73
What is the mode of inheritance of homocystinuria?
Autosomal recessive
74
What is the mode of inheritance of neurofibromatosis I and II?
Autosomal dominant
75
What is the mode of inheritance of von Hippel-Lindau disease?
Autosomal dominant
76
What is the most common cause of inherited intellectual disability?
Fragile X syndrome
77
What is the most common primary CNS tumor in children?
Pilocytic astrocytoma
benign
78
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
79
What is the next step in management for a child that presents to the ED after a transient simple febrile seizure?
Reassurance
80
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
81
What is the next step in management for an infant that experienced a breath-holding spell?
Reassurance
breath-holding spells are considered normal development
82
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
## Footnote
CT preferred in a symptomatic child; MRI is preferred if the patient is stable and asymptomatic to spare radiation exposure
83
What is the treatment of choice for infant botulism?
Human-derived botulism immune globulin
84
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
85
What psychiatric comorbidities are associated with absence seizure?
ADHD and anxiety
86
Which cause of intellectual disability is characterized by prominent jaw, large ears, and macroorchidism?
Fragile X
87
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)
88
Which lysosomal storage disease is caused by deficiency of hexosaminidase A?
Tay-Sachs disease
89
Which lysosomal storage disease is caused by deficiency of sphingomyelinase?
Niemann-Pick disease
90
Which lysosomal storage diseases are associated with a "cherry-red" spot on the macula?
Niemann-Pick and Tay-Sachs disease
91
Which neurocutaneous disorder is associated with cafe-au-lait spots, cutaneous neurofibromas, and Lisch nodules?
Neurofibromatosis I
92
Which type of generalized seizure is characterized by a blank stare?
Absence seizures
93
[...] seizures originate from a single cerebral hemisphere.
**Focal** seizures originate from a single cerebral hemisphere.
may secondarily generalize, causing loss of consciousness and automatisms
94
[...] 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)
95
[...] is a metabolic disorder that may present with marfanoid habitus.
Homocystinuria is a metabolic disorder that may present with marfanoid habitus
## Footnote
typically caused by cystathionine synthase deficiency
96
[...] 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
97
[...] syndrome is also known as encephalotrigeminal angiomatosis.
**Sturge-Weber** syndrome is also known as encephalotrigeminal angiomatosis.
98
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.
99
[...] 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.
100
Absence seizures are easily provoked by [...].
Absence seizures are easily provoked by **hyperventilation.**
101
[...] seizures are easily provoked by hyperventilation.
**Absence** seizures are easily provoked by hyperventilation.
102
Neurofibromatosis II is a neurocutaneous disorder associated with [...]. (ear findings)
Neurofibromatosis II is a neurocutaneous disorder associated with **bilateral acoustic schwannomas**. (ear findings)
103
[...] is a neurocutaneous disorder associated with bilateral acoustic schwannomas. (ear findings)
**Neurofibromatosis II** is a neurocutaneous disorder associated with bilateral acoustic schwannomas. (ear findings)
104
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
105
[...] 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
106
Neuroblastoma originates from [...] cells and typically arises in the adrenal glands, but may occur anywhere along the sympathetic chain.
Neuroblastoma originates from **neural crest** cells and typically arises in the adrenal glands, but may occur anywhere along the sympathetic chain.
calcifications and/or hemorrhages may be seen on X-ray
