chapter 66 - 71-72-73-74

Question 1

Maple syrup urine disease due to defective metabolism of which amino acids?
1. Leucine
2. Isoleucine
3. Valine
4. Phenylalanine
Select: A = 1, 2, 3. B = 1, 3. C -2. 4. D = 4 only. F = All

Answer 1

a

Question 2

Which of the following are prenatal clinical indicators of anencephaly?
1. Serum CEA
2. Elevated amniotic fluid a-fetoprotein
3. Maternal genetic testing
4. Ultrasound
Select: A = 1,2, 3. B= 1, 3. C = 2,4. D - 4 only. E - All

Answer 2

c

Question 3

A patient with occipital encephalocele has reconstructive surgery as an infant. What is the
prognosis for good neurologic outcome with the repair?
A. Good, near normal
B. Fair, continued neurologic deficit, but improvement with surgery
C. Poor, repair offers no improvement in neurologic function

Answer 3

c

Question 4

Which of the following statements are tme regarding holoprosencephaly?
1. Most patients have midline facial dysplasia
2. Most patients have severe developmental delay
3. Most patients have seizures
4. There is never any value to shunting of the large ventricle
Select: A= 1,2. 3. B = 1.3. C = 2, 4. D - 4 only. F - All

Answer 4

a

Question 5

Which of the following statements arc true of septo-optic dysplasia’
7
1. Mental retardation is common
2. Visual deficits are common
3. Seizures are common
4. Endocrine deficits are common Select: A = 1. 2, 3. B = 1, 3. C - 2, 4. D = A sol] B=A

Answer 5

c

Question 6

An MRI is performed or- a child with epis: : headaches with nausea, vomiting, and photophobia,
and shows displacement of the cerebellar tonsils and posterior vermis thr: ig the foramen
magnum. There is no hydrocephalus, and the brainstem appears to have no significant
compression. What type deficit is described?
A. Chiari I malformation
B. Chiari II malformation
C. Chiari 111 malformation
D. Chiari IV malformation

Answer 6

a

Question 7

Whai involvement would you expect the Chiari malformation to have in the patient’s headaches,
as described above?
A. Probably related, from intermittent obstructive hydrocephalus
B. Probably related, from intermittent medullary compress ion
C. Probably unrelated

Answer 7

c

Question 8

A patient at autopsy is found to have a small area focal dysplasia of the cerebellar cortex. You
know nothing about the patient’s clinical presentation, and the patient died of a non-neurologic
cause. What clinical presentation would you have expected of this developmental abnormality?
A. Major neurologic deficit, mental retardation and ataxia
B. Seizures
C. Mild deficit, cerebellar ataxia
D. None, the patient was probably asymptomatic

Answer 8

d

Question 9

Which is the most common CNS tumor in neurofibromatosis type 1? 
A. Cerebral glioma 
B. Brainstem glioma 
C. Acoustic schwannoma 
D. Optic glioma

Answer 9

d

Question 10

The figure shows a child with a plexiform neurofibroma.
The cutaneous lesion is associated with which disorder?
A. NF 1
B NF2
C. Both
D. neither

Answer 10

a

Question 11

A patient presents with mental retardation, seizures, and behavioral abnormalities and has skin 
lesions shown in the figure. 
Which is the most likely diagnosis? 
A. NF1 
B. NF2 
C. Sturge-Weber syndrome 
D. Tuberous sclerosis

Answer 11

d

Question 12

A two-year-old child is brought to the office for follow-up of “cerebral paisy.” The patient has
spastic quadriplegia which began in the first year of life, and seizures which are tonic and
myoclonic. Medical examination shows brittle light-colored hair and hypopigmentation of the
skin. Which is the most likely diagnosis?
A. Arginosuccinic aciduria
B. Kinky hair syndrome
C. Perinatal asphyxia
D. Congenital hypomyeiination

Answer 12

b

Question 13

Which of the following features would be expected in xeroderma pigmentosum?
1. Mental retardation
2. Hearing loss
3. Skin cancer
4. Abnormal EEG but normal EMG
Select: A = 1,2, 3. B= 1,3. C-2,4. D = 4 only. E = All

Answer 13

a

Question 14

A one-year-old child presents with prominent truncal ataxia as he begins to walk which worsens
over the ensuing months. Examination at 18 months of age shows gait ataxia and intention
tremor. Eye examination shows apraxia of gaze. Which of the following is most likely?
A. Wilson’s disease
B. Von Hippel-Lindau syndrome
C. Ataxia-telangiectasia
D. Zellweger’s disease

Answer 14

c

Question 15

Fabry's disease is associated with deficiency of which of the following enzymes? 
A. a-galactosidase A 
B. Arginosuccinate lyase 
C. Phenylalanine hydroxylase 
D. Cystathionine p-synthase

Answer 15

a

Question 16

Which of the following are potential complications of Ehlers-Danlos syndrome?
1. Cerebral aneurysm
2. Arterial dissection
3. Carotid-cavernous fistula
4. Peripheral neuropathy
Select: A= 1.2,3. B= 1,3.C = 2,4. D = 4 only. E = All

Answer 16

e

Question 17

The figure shows a child with a facial lesion. 
Which is the most likely diagnosis': 
A. Neurofibromatosis type 2 
B. Yon Hippel-Lindau syndrome 
C. Sturge-Weber syndrome 
D. Tuberous sclerosis

Answer 17

c

Question 18

The figure shows a MR1 slice of a patient and ataxia.
Which is the most likely diagnosis

A. Neurofibromatosis type 2
B. Von Hippel-Lindau syndrome
C. Sturge-Weber syndrome
D. Tuberous sclerosis

Answer 18

b

Question 19

A 70-year-old man is evaluated for memory difficulty and found to have mild cognitive
impairment, how would you advise the patient about the risk of developing Alzheimer’s disease?
A. The risk of developing AD is 100%
B. The risk of developing AD is increased but not certain
C. There is no increase in risk of developing AD

Answer 19

b

Question 20

Dementia with Lewy bodies is differentiated from AD by which of the following features?
1. Parkinson’s features
2. Visual hallucinations
3. Fluctuation level of consciousness
4. More severe loss of short-term memory
Select: A = 1.2, 3. B= 1, 3. C = 2,4. D = 4 only. E = All

Answer 20

a

Question 21

The figure shows an MRI taken from a patient who does not have clinical signs of memory-loss
or other cognitive disturbance.
Which of the following clinical conclusions can be made from this information?
A. The patient has incipient vascular dementia which will eventually become evident on
examination
B. The patient has Alzheimer’s disease which is so far subclinical
C. The patient has vascular disease which places him at increased risk of dementia

Answer 21

c

Question 22

Which of the following statements are true regarding treatment of AD with choiinesterase
inhibitors?
A. Choiinesterase inhibitors are helpful mainly for patients with severe AD
B. Choiinesterase inhibitors are helpful mainly for patients with mild to moderate AD
C. Choiinesterase inhibitors are not helpful for treatment of patients with AD

Answer 22

b

Question 23

What is the role of genetic testing for APP or presenilin in the routine evaluation of a patient
with suspected Alzheimer’s disease?
A. Genetic testing is rarely performed for the routine diagnosis of dementia
B Genetic testing is performed on most patients with dementia
C. Genetic testing is performed when the patient is under the age of 55

Answer 23

a

Question 24

A 55-year-old female presents with progressive dementia of 3 months duration, action tremor,
hyperrerlexia, and upgoing toes. She then develops startle myoclonus. Which is the most likely
diagnosis?
A. Anoxic encephalopathy
B. Creutzfeldt-Jakob disease
C. Hepatic encephalopathy
D. Progressive multiple sclerosis

Answer 24

b

Question 25

A 70-year-old man presents with dementia, ataxia with small shuffling steps. The arms and legs
have increased tone and slowed movements. The patient has supranuclear palsy with downgaze
paresis. Which is the most likely diagnosis?
A. Parkinson’s disease
B. Striatonigrai degeneration
C. Progressive supranuclear palsy
D. Multiple system atrophy

Answer 25

c

Question 26

A 75-year-old man presents with dementia and is found to have shuffling gait with short . steps
and impaired arm swing with reduced fingei movements. He has occasional urinary
incontinence. MR! shows increased ventricular size out of proportion to cortical atrophy, and the
radiologist suggests normal pressure hydrocephalus on the basis of radiographic appearance.
Which statement best describes the relationship between NPH and the parkinsons-dementia
syndrome described?
A. The patient most likely has parkinsons-dementia syndrome and the increased ventricular size
is due to atrophy
B. The patient may have NPH which can present as a parkinson’s syndrome with dementia
C. The patient has obstpjetive hydrocephalus which presents with frontal lobe ataxia

Answer 26

b

Question 27

Which of the following suggest striatonigral degeneration rather than Parkinson’s disease?
1. Absence of resting tremor
2. Asymmetric motor signs
3. Severe autonomic dysfunction
4. Slower functional decline
Select: A = 1. 2. 3. B - 1, 3. C = 2, 4. D = 4 only. E = All

Answer 27

b

Question 28

A patient with progressive dementia is diagnosed as having frontotemporal dementia on the basis
of clinical findings and PET scan. What is the role of cholinesterase inhibitors in the treatment of
FTD?
A. Cholinesterase inhibitors are at least as helpful in FTD as in AD
B. Cholinesterase inhibitors are helpful for FTD, but less so for AD
C. Cholinesterase inhibitors are not helpful for FTD

Answer 28

c

Question 29

A patient presents with episodes of unresponsiveness without loss of postural tone. He appears
unaware of external stimuli during the episode and briefly confused after the episode. He has no
memory for events during the episode. Which is the most likely diagnosis?
A. Attention deficit disorder
B. Absence seizure
C. Simple partial seizure
D. Complex partial seizure

Answer 29

d

Question 30

An 8-year-old child presents with episodes of right facial jerking and speech arrest. During the
episodes, the patient has preservation of consciousness. The episodes are mainly nocturnal.
Neurologic examination is normal. Which is the most likely diagnosis?
A. Absence epilepsy
B. Benign epilepsy with centrotemporal spikes
C. Benign epilepsy with occipital paroxysms
D. Complex partial epilepsy

Answer 30

b

Question 31

Which of the following statements are true regarding mortality from epilepsy?
1. Mortality in patients with epilepsy is increased at least twofold
2. Motor vehicle accident is the most common cause of accidental death due to epilepsy
3. The cause of death in epilepsy is often related to the underlying cause
4. Sudden unexplained death (SUDEP) is unrelated to seizure control
Select: A = 1, 2, 3. B = 1, 3. C = 2, 4. D - 4 only. E - All

Answer 31

b

Question 32

Which of the following statements are true regarding post-traumatic epilepsy?
1. Post-traumatic epilepsy is most common in older patients
2. Post-traumatic epilepsy is increased in incidence in patients with intracranial hematoma
3. Prophylaxis with phenytoin lowers the risk of late development seizures
4. Post-traumatic epilepsy is more common with depressed skull fractures
Select: A = 1 2, 3. B = 1, 3. C = 2, 4. D = 4 only. E = All

Answer 32

c

Question 33

A 36-year-old female presents with episodes of unresponsiveness associated with flailing of the
arms and pelvic thrusting. The head swings from side to side. The patient is limp and confused
after the episode for a few minutes. Which is the most appropriate formulation?
A. The episodes are psychogenic seizures and psychiatric evaluation is indicated
B. The episodes are probably psychogenic, but monitoring should be performed to confirm the
diagnosis
C. The episodes are complex partial seizures and AED therapy is needed
D. The episodes are generalized seizures and AED therapy is needed

Answer 33

b

Question 34

Which of the following statements are true regarding evaluation of patients with potential non-epileptic seizures?
1. Normal EEG during a partial or generalized seizure is diagnostic of non-epileptic seizure
2. Preserved posterior dominant rhythm during seizure is diagnostic of non-epileptic seizure
3. Lack of elevation in serum prolactin with a generalized seizure makes the diagnosis of
nonepileptic seizure
4. Suppression of EEG background after a clinical seizure indicates an epileptic seizure
Select: A = 1, 2, 3. B = 1, 3. C = 2, 4. D = 4 only. E - All

Answer 34

d

Question 35

MR1 images of a patient with complex partial seizures are shown in the figure. Top is Tl-weighted and bottom is T2-weighted imaging.
Which is the pathology shown in the scans?
A. Astrocytoma
B. Hamartoma
C. Herpes encephalitis
D. Mesial temporal sclerosis

Answer 35

d

Question 36

Which of the following medications are helpful for patients with absence epilepsy?
1. Ethosuximide 2. Lamotrigine 3. Valproate 4. Carbamazepme
Select: A = 1, 2. 3. B = 1, 3. C = 2, 4. D = 4 only. E – All

Answer 36

a

Question 37

Which of the following are appropriate treatments for primary generalized tonic-clonic seizures?
1. Valproic acid
2. Carbamazepine
3. Phenytoin
4. Levietiracetam
Select: A= 1,2, 3. B = I, 3. C = 2,4. D = 4 only. E = All

Answer 37

e

Question 38

Which of the following statements are true regarding vagal nerve stimulation for patients with
refractory epilepsy?
1. VNS results in complete control of seizures in about a third of patients
2. VNS reduces seizure frequency but not severity
3. VNS is predominantly used for generalized seizures
4. Patients with VNS need continued AED therapy
Select: A = 1, 2. 3. B = 1, 3. C = 2, 4. D = 4 only. E = All

Answer 38

d

Question 39

Which of the following statements is NOT true regarding sleep requirements?
A. Patients who sleep less than 4 hours have a higher incidence of death from CAD
B. Patients who sleep more than 10 hours have a higher incidence of death from CAD
C. Longer sleepers have less stage II sleep than short sleepers
D. Longer sleepers have less stage III and IV sleep

Answer 39

c

Question 40

Which of the following statements regarding sleep deprivation are NOT true?
A. Daytime sleepiness is increased
B. Microsleeps are more frequent
C. Most Americans are sleep deprived
D. Sleep deprivation results in permanent neuropsychiatric disorder

Answer 40

d

Question 41

Chronic insomnia can be expected to have which of the following effects?
1. Impaired motor performance
2. Long-term cognitive disturbance
3. Increased risk of motor vehicle accidents
4. Misperception of sleep time
Select: A= 1,2,3. B = 1,3. C = 2,4. D = 4 only. E = A!!

Answer 41

e

Question 42

A patient presents with episodes of irresistible sleepiness which occur even when active. He
complains of excessive daytime sleepiness. Neurologic examination is normal. Which is the most
likely diagnosis?
A. Cataplexy
B. Chronic insomnia
C. Narcolepsy
D. Sleep deprivation

Answer 42

c

Question 43

Which of the following predisposes to obstructive sleep apnea?
1. Males
2. Age more than 40 years.
3. Obesity
4. Smoking
Select: A = 1, 2, 3. B = 1, 3. C = 2. 4. D = 4 only. E = All

Answer 43

e

Question 44

A 60-year-old female patients with paresthesia in the legs which keeps her awake at night. The
diagnosis of restless legs syndrome is made. Peripheral electrophysiological studies show axonal
polyneuropathy. What is the implication of the abnormal electrophysiological studies?
A. The patient has peripheral neuropathy and not RLS
B. The patient has RLS due to peripheral neuropathy
C. The finding of peripheral neuropathy is technically in error

Answer 44

b

Question 45

A 55-year-old female presents with morning headache. She awakes at about 4 am each night
with a holocephalic headache. She has no headaches during the day. Which would be the best
treatment?
A. Dexamethasone
B. Indomethacin
C. Valproate
D. Verapamil

Answer 45

b

Question 46

A patient is evaluated for insomnia and is found to have markedly attenuated sleep patterns and
only brief episodes of REM sleep, lasting less than a minute. His mother died m middle age with
rapidly-progressive dementia progressing to coma of unknown cause. Which is the most likely
diagnosis?
A Familial Alzheimer’s disease
B. Fatal familial insomnia
C. Huntington’s disease
D. Obstructive sleep apnea

Answer 46

b

Question 47

Which of the following statements are true regarding sleep and stroke?
1. Sleep apnea predisposes to stroke
2. Stroke predisposes to sleep apnea
3. Snoring is a risk factor for stroke
4. Brainstem infarction may cause Ondine’s curse
Select: A = 1, 2, 3. B = 1, 3. C = 2, 4. D = 4 only. E = All

Answer 47

e

Question 48

A patient with excessive daytime sleepiness not associated with sleep attacks has a multiple sleep
latency test and is found to have two sleep-onset REM epochs. Which is the correct
interpretation of these data?
A. The findings are normal
B. The findings indicate that the patient has narcolepsy
C. The findings are consistent with excessive sleepiness
D. The findings indicate an error in interpretation

Answer 48

c