Neurology Flashcards
Match the following:
Horner’s syndrome and facial numbness
A. Tolosa-Hunt syndrome
B. Gradenigo’s syndrome
C. Raeder’s syndrome
A. Tolosa-Hunt syndrome
B. Gradenigo’s syndrome
C. Raeder’s syndrome
Raeder’s para trigeminal neuralgia is often localized adjacent to the trigeminal nerve as it courses through
the middle cranial fossa. The cause of this syndrome is often
unclear, but it is usually characterized by a partial Horner’s
syndrome and unilateral trigeminal nerve problems, including tic-like pain, numbness, and/or masseter weakness.
Gradenigo’s syndrome, also lmown as apical petrositis, often
consists of the classic triad of abducens nerve palsy, retroorbital pain, and a draining ear. Tolosa-Hunt syndrome is a
diagnosis of exclusion; this condition is believed to result
from inflammation adjacent to the superior orbital fissure. It
is characterized by painful ophthalmoplegia, cranial nerves
III, IV, and VI palsies, and recurrent attacks and remissions;
it is typically treated with intravenous steroids (Greenberg,
pp.581-582).
Match the following:
Retro- or bital pain and sixth nerve palsy
A. Tolosa-Hunt syndrome
B. Gradenigo’s syndrome
C. Raeder’s syndrome
A. Tolosa-Hunt syndrome
**B. Gradenigo’s syndrome **
C. Raeder’s syndrome
Raeder’s para trigeminal neuralgia is often localized adjacent to the trigeminal nerve as it courses through
the middle cranial fossa. The cause of this syndrome is often
unclear, but it is usually characterized by a partial Horner’s
syndrome and unilateral trigeminal nerve problems, including tic-like pain, numbness, and/or masseter weakness.
Gradenigo’s syndrome, also lmown as apical petrositis, often
consists of the classic triad of abducens nerve palsy, retroorbital pain, and a draining ear. Tolosa-Hunt syndrome is a
diagnosis of exclusion; this condition is believed to result
from inflammation adjacent to the superior orbital fissure. It
is characterized by painful ophthalmoplegia, cranial nerves
III, IV, and VI palsies, and recurrent attacks and remissions;
it is typically treated with intravenous steroids (Greenberg,
pp.581-582).
Match the following:
Painful ophthalmoplegia and third, fourth , and fifth nerve palsies
A. Tolosa-Hunt syndrome
B. Gradenigo’s syndrome
C. Raeder’s syndrome
**A. Tolosa-Hunt syndrome **
B. Gradenigo’s syndrome
C. Raeder’s syndrome
Raeder’s para trigeminal neuralgia is often localized adjacent to the trigeminal nerve as it courses through
the middle cranial fossa. The cause of this syndrome is often
unclear, but it is usually characterized by a partial Horner’s
syndrome and unilateral trigeminal nerve problems, including tic-like pain, numbness, and/or masseter weakness.
Gradenigo’s syndrome, also lmown as apical petrositis, often
consists of the classic triad of abducens nerve palsy, retroorbital pain, and a draining ear. Tolosa-Hunt syndrome is a
diagnosis of exclusion; this condition is believed to result
from inflammation adjacent to the superior orbital fissure. It
is characterized by painful ophthalmoplegia, cranial nerves
III, IV, and VI palsies, and recurrent attacks and remissions;
it is typically treated with intravenous steroids (Greenberg,
pp.581-582).
A 56-year-old male with a long history of smoking and hypertension presents to a stroke neurologist with a unique vascular insult involving the cephalad portion of the nucleus ambiguus. Which of the following problems can often be avoided with such an insult?
A. Palatal paralysis
B. Pharyngeal paralysis
C. Laryngeal paralysis
D. None of the above
E. All of the above
A. Palatal paralysis
B. Pharyngeal paralysis
**C. Laryngeal paralysis **
D. None of the above
E. All of the above
Lesions within the nucleus ambiguus may occur as
a result of vascular insults, tumors, syringobulbia, motor
neuron disease, and inflammatory disease. Lesions in this
location often result in palatal, pharyngeal, and laryngeal
paralysis that is often associated with other adjacent cranial
nerve and brainstem abnormalities. If the cepha lad portion
of the nucleus ambiguus is injured , however, laryngeal function is often spared due to the somatotopic organization of
this motor nucleus. This is referred to as “palatopharyngeal
paralysis of Avellis” (Brazis, pp. 321- 322).
Ipsilateral trapezius and sternocleidomastoid muscle wealmess, dysphonia and dysphagia, loss of taste over the posterior third of the tongue , and depressed sensation over the pharYlu characterizes what syndrome?
A. Collet-Sicard syndrome
B. Vernet’s syndrome
C. Schmidt’s syndrome
D. Garcin syndrome
E. Weber’s syndrome
A. Collet-Sicard syndrome
**B. Vernet’s syndrome **
C. Schmidt’s syndrome
D. Garcin syndrome
E. Weber’s syndrome
Refer to Table 3-SA. The spinal accessory nerve enters
the jugular foramen accompanied by cranial nerves IX and X.
Lesions of the jugular foramen including tumors, infections,
and fractures can result in Vernet’s syndrome, which is cha racterized by ipsilateral trapezius and sternocleidomastoid
muscle wealmess, dysphonia and dysphagia , loss of taste
over the po~terior third of the tongue, and depressed sensation over the pharynx (Brazis, pp. 330-331).
A 7 -year-old boy presented to the emergency room with involuntary laughter (gelastic seizures) and precocious puberty. An MRI study of the brain may show a lesion in what location?
A. Amygdala
B. Hippocampus
C. Cingulate gyrus
D. Hypothalamus
E. Sella turcica
A. Amygdala
B. Hippocampus
C. Cingulate gyrus
**D. Hypothalamus **
E. Sella turcica
An [vIR} study of the brain in a patient with seizures
accompanied by involuntary laughter (gelastic seizures) that
alternates with crying or sobbing spells would likely show
a lesion in the hypothalamus. A small series of cases have
been reported in the literature to date describing this
phenomenon; in one report, 4 of 16 patients were found to
harbor a hypothalamic hemartoma. Gelastic seizures or
laughing fits have been reported to occur in up to 21% of
patients with hypothalamic hemartomas. Most patients with
this lesion present with isosexual precocious puberty by the
age of 3 years, although patients as old as 8 years have been
reported. Hypothalamic hemartomas may be associated
with midline deformities such as callosal ageneSis, optic
malformations, and hemispheric dysgenesis (Kaye and Laws,
pp. 593- 596).
A 52-year-old construction worker noted some
weakness in his hands while at work, followed by thickening
of his speech and swallowing problems a few months later.
Although he complained of generalized fatigue and aching in his upper and lower extremities, no numbness or other
sensory abnormalities were noted on physical examination.
There were marked fasciculations and atrophy of his arms, legs, and tongue, as well hyperactive retlexes and Babinski
Signs.
The most likely diagnosis in this middle-aged man would be?
A. Cervical myelopathy
B. Multiple sclerosis
C. Myasthenia gravis
D. Guillain-Barre syndrome
E. Amyotrophic lateral sclerosis
A. Cervical myelopathy
B. Multiple sclerosis
C. Myasthenia gravis
D. Guillain-Barre syndrome
E. Amyotrophic lateral sclerosis
In this patient, the multiple motor deficits and
signs of anterior horn cell disease unaccompanied by any
sensory abnormalities suggest a diagnosis of amyotrophic
lateral sclerosis (ALS). j’vlost individuals with ALS die within
5 years of symptom onset, especially if there are both upper
and lower motor neuron signs. There is a very high incidence
of this disease among the Chamorro Indians of Guam, and
there is also an association between ALS and a Parkinsonlike dementia complex (Merritt, pp. 710- 712)
A 52-year-old construction worker noted some
weakness in his hands while at work, followed by thickening of his speech and swallowing problems a few months later. Although he complained of generalized fatigue and aching in his upper and lower extremities, no numbness or other sensory abnormalities were noted on physical examination. There were marked fasciculations and atrophy of his arms, legs, and tongue, as well hyperactive retlexes and Babinski Signs.
What is the prognosis ?
A. Relatively good with improved blood sugar levels
B. Often the patient can go into long-term remission with
plasmapheresis and steroid treatment
C. Excellent with anticholinergic medications
D. Surgery can help prevent neurologic progression
E. Often fatal within 3-5 years
A. Relatively good with improved blood sugar levels
B. Often the patient can go into long-term remission with
plasmapheresis and steroid treatment
C. Excellent with anticholinergic medications
D. Surgery can help prevent neurologic progression
E. Often fatal within 3-5 years
In this patient, the multiple motor deficits and
signs of anterior horn cell disease unaccompanied by any
sensory abnormalities suggest a diagnosis of amyotrophic
lateral sclerosis (ALS). j’vlost individuals with ALS die within
5 years of symptom onset, especially if there are both upper
and lower motor neuron signs. There is a very high incidence
of this disease among the Chamorro Indians of Guam, and
there is also an association between ALS and a Parkinsonlike dementia complex (Merritt, pp. 710- 712)
A 52-year-old construction worker noted some
weakness in his hands while at work, followed by thickening
of his speech and swallowing problems a few months later.
Although he complained of generalized fatigue and aching
in his upper and lower extremities, no numbness or other
sensory abnormalities were noted on physical examination.
There were marked fasciculations and atrophy of his arms,
legs, and tongue, as well hyperactive retlexes and Babinski
Signs.
This disease can be associated with what other illness or abnormality?
A. Infantile spasms
B. IGUver-Bucy syndrome
C. Parkinsonism
D. Down’s syndrome
E. Autonomic nervous system degeneration
A. Infantile spasms
B. IGUver-Bucy syndrome
C. Parkinsonism
D. Down’s syndrome
E. Autonomic nervous system degeneration
In this patient, the multiple motor deficits and
signs of anterior horn cell disease unaccompanied by any
sensory abnormalities suggest a diagnosis of amyotrophic
lateral sclerosis (ALS). j’vlost individuals with ALS die within
5 years of symptom onset, especially if there are both upper
and lower motor neuron signs. There is a very high incidence
of this disease among the Chamorro Indians of Guam, and
there is also an association between ALS and a Parkinsonlike dementia complex (Merritt, pp. 710- 712)
Akinetic ‘1ll1ltislll refers to a state in which patients,
although seemingly awake, remain motionless and silent. It
has commonly been descri bed wi th lesions involving all of
the following structures EXCEPT?
A. Hypothalamus
B. Ascending dopaminergic activating system
C. Cingulate gyrus
D. Thalamus
E. Raphe nucleus
A. Hypothalamus
B. Ascending dopaminergic activating system
C. Cingulate gyrus
D. Thalamus
E. Raphe nucleus
Refer to Figure 3.10A. Animal studies and case reports
have disclosed two primary lesion sites that may result in
akinetic mutism: the mesencephalic-diencephalic reticular
activating system including the midbrain reticular formation, thalamus, and hypothalamus, and lesions involving the
anterior cingulate gyrus and adjacent mesial frontal lobes.
These two major lesion sites occur along the pathways that
originate in the mesencephalon and project widely to
dopamine receptors located in spinal cord, brainstem, diencephalon, corpus striatum, and mesiofrontal lobes as the
ascending dopaminergic activating system. Mutism related
to dentate nucleus damage has been shown to occur after
removal of cerebellar tumors, especially in children, but this
type of mutism is distinct from classic akinetic mutism.
(Brazis, p. 566).
All of the following are characteristics of tuberculous Meningitis EXCEPT?
A. The mortality rate is often higher than in bacterial meningitis
B. Treatment initially includes isoniazid, rifampin, pyrazinamide, and ethambutol
C. Treatment, if started early, is effective in preventing poor outcome in the majority of patients
D. The primary focus of infection with tuberculosis is likely from a region outside the brain
E. Bacterial meningitis is marked by basal meningitis, whereas in tuberculosis the base of the brain is relatively spared of infection
A. The mortality rate is often higher than in bacterial meningitis
B. Treatment initially includes isoniazid, rifampin, pyrazinamide, and ethambutol
C. Treatment, if started early, is effective in preventing poor outcome in the majority of patients
D. The primary focus of infection with tuberculosis is likely from a region outside the brain
E. Bacterial meningitis is marked by basal meningitis, whereas in tuberculosis the base of the brain is relatively spared of infection
Tuberculous meningitis is always secondary to an
infection elsewhere in the body, especially the lungs. It
differs from infections caused by other common bacteria in
that the time course is often more protracted, the mortality
rate is higher, and the CSF changes may not be very helpful
or diagnostic initially. Tuberculous meningitis is also often
characterized by marked basal meningitis, as opposed to
bacterial meningitiS, which tends to produce a meningeal
reaction over the convexities of the brain. The diagnosis is
often established by isolating the organism from the CSF.
CSF findings include slightly increased pressure, moderate
pleocytosis of 25 to 500 cells/mm3 with lymphocytic predominance, increased protein content, decreased glucose values
in the range of 20 to 40 mg/dL, and the absence of growth on
routine CSF culture media. The natural course of the disease
is death within 6 to 8 weeks if left untreated. With early
diagnosis and treatment, the recovery rate approaches 90%.
Treatment is commonly started with four drugs, including
isoniazid, rifampin, pyrazinamide, and ethambutol; streptomycin is an alternative in case one of the agents cannot
be used. The drug regimen can be modified later, once sensitivities of the mycobacterium are lO1own, but are typically
administered for 18 to 24 months (Merritt, pp. 108-111)
Gerstmann’s syndrome includes all of the following
EXCEPT?
A. Finger agnosia
B. Acalculia
C. Agraphia
D. Right and left confusion
E. Anosognosia
A. Finger agnosia
B. Acalculia
C. Agraphia
D. Right and left confusion
E. Anosognosia
Gerstmann’s syndrome can result from injury in the
dominant inferior parietal lobule (angular and supramarginal
gyri) and is characterized by confusion of the right and
left limbs, difficulty in distinguishing the fingers on the
hand (finger agnosia), acalculia, and agraphia. Anosognosia,
which is characterized by unawareness of the opposite side
of the body, often results from lesions in the nondominant
parietal lobe and is not a feature of Gerstmann’s syndrome
(Carpenter, p. 429)
The biochemical defect in Refsum’s disease has been identified as defiCiency of what enzyme?
A. Arylsulfatase A
B. Phytanoyl-coenzyme A hydroxylase
C. p~Glucosidase
D. a-Galactosidase
E. Acid ceramidase
A. Arylsulfatase A
**B. Phytanoyl-coenzyme A hydroxylase **
C. p~Glucosidase
D. a-Galactosidase
E. Acid ceramidase
Refsum disease is an autosomal recessive disease
caused by a defiCiency of phytanoyl-coenzyme A hydroxylase and accumulation of phytanic acid in the body. This
disease is unique among the lipidoses because phytanic acid
is not syntheSized in the boely but is obtained exclusively
from the diet. Limiting phytanic acid or its precursor, phytol
(dairy products, ruminant fat, and chlorophyl-containing
foods), from the diet reduces plasma phytanic acid levels.
Plasmapheresis may further help eliminate phytanic acid
from the body in severe cases. Symptoms typically begin in
childhood but in some patients may be delayed until the fifth
decade. Night blindness typically appears first, followed by
limb wealO1ess and gait abnormalities. Some patients may
develop psychiatric symptoms, peripheral neuropathy, pigmentary retinopathy, deafness, cataracts, bone deformities,
or cardiac arrhythmias (Merritt, pp. 514-529, 539-540).
A 56-year-old female was diagnosed with paranoid
schizophrenia and hospitalized. She was started on low-dose
risperidone (Risperdal). A few days into her hospitalization,
she complained of worsening abdominal pain. On examination, there was no abdominal rigidity, but fever, leulwcytosis,
diarrhea, hypertension, and tachycardia were noted. Imaging studies of the brain and abdomen were unremarkable
What is the most likely diagnosis?
A. Conversion disorder
B. Schizophrenia with depressive features
C. Acute intermittent porphyria
D. Appendicitis
E. Risperidone-induced infusion syndrome
A. Conversion disorder
B. Schizophrenia with depressive features
**C. Acute intermittent porphyria **
D. Appendicitis
E. Risperidone-induced infusion syndrome
The symptoms of acute intermittent porphyria (AlP) are most commonly gastrointestinal, psychiatric,
and neurologic. The precise etiology remains uncertain, but
large and small nerve fibers, as well as autonomic nerves,
have been shown to be affected. Abdominal pain is the most
common finding, but often occurs concomitantly with a
psychiatric or neurologiC disorder. There is usually no
abdominal rigidity, but fever, leukocytosis, diarrhea, tachycardia, and hypertension are often evident. Appendicitis or
other serious abdominal problems may be difficult to rule
out; in fact, some patients have been subjected to laparotomy for abdominal exploration. The most reliable test to
confirm AlP is the assay for porphobilinogen deaminase
activity in red blood cells, but often a good clinical history
and examination can give clues to the diagnosis. The autonomic manifestations, abdominal pain, and anxiety may be
reversed with propranolol. Hematin has also been shown to
reverse the neuropathy and abdominal pain by suppressing
aminolevulinic acid dehydratase levels. This patient’s history and multiple clinical findings are not consistent with
volume depletion, conversion disorder, appendicitis, or hysteria. Barbiturates, sulfonamides, gabapentin, and hormone
replacement therapy may cause or exacerbate AlP (Merritt,
pp. 549- 551).
A 56-year-old female was diagnosed with paranoid
schizophrenia and hospitalized. She was started on low-dose
risperidone (Risperdal). A few days into her hospitalization,
she complained of worsening abdominal pain. On examination, there was no abdominal rigidity, but fever, leulwcytosis,
diarrhea, hypertension, and tachycardia were noted. Imaging studies of the brain and abdomen were unremarkable
The most reliable test or intervention that confirms this
diagnosis would include?
A. Aminolevulinic acid synthase
B. Assay for homocysteine synthetase
C. Assay for porphobilinogen deaminase activity
D. Exploratory celiotomy
E. Discontinuation of the antipsychotic medication with resolution of symptoms
A. Aminolevulinic acid synthase
B. Assay for homocysteine synthetase
**C. Assay for porphobilinogen deaminase activity **
D. Exploratory celiotomy
E. Discontinuation of the antipsychotic medication with resolution of symptoms
The symptoms of acute intermittent porphyria (AlP) are most commonly gastrointestinal, psychiatric,
and neurologic. The precise etiology remains uncertain, but
large and small nerve fibers, as well as autonomic nerves,
have been shown to be affected. Abdominal pain is the most
common finding, but often occurs concomitantly with a
psychiatric or neurologiC disorder. There is usually no
abdominal rigidity, but fever, leukocytosis, diarrhea, tachycardia, and hypertension are often evident. Appendicitis or
other serious abdominal problems may be difficult to rule
out; in fact, some patients have been subjected to laparotomy for abdominal exploration. The most reliable test to
confirm AlP is the assay for porphobilinogen deaminase
activity in red blood cells, but often a good clinical history
and examination can give clues to the diagnosis. The autonomic manifestations, abdominal pain, and anxiety may be
reversed with propranolol. Hematin has also been shown to
reverse the neuropathy and abdominal pain by suppressing
aminolevulinic acid dehydratase levels. This patient’s history and multiple clinical findings are not consistent with
volume depletion, conversion disorder, appendicitis, or hysteria. Barbiturates, sulfonamides, gabapentin, and hormone
replacement therapy may cause or exacerbate AlP (Merritt,
pp. 549- 551).
A 56-year-old female was diagnosed with paranoid
schizophrenia and hospitalized. She was started on low-dose
risperidone (Risperdal). A few days into her hospitalization,
she complained of worsening abdominal pain. On examination, there was no abdominal rigidity, but fever, leulwcytosis,
diarrhea, hypertension, and tachycardia were noted. Imaging studies of the brain and abdomen were unremarkable
The abdominal pain may improve dramatically with
what medication?
A. Propranolol
B. Barbiturates
C. SuIfonamides
D. Gabapentin
E. Mercury
**A. Propranolol **
B. Barbiturates
C. SuIfonamides
D. Gabapentin
E. Mercury
The symptoms of acute intermittent porphyria (AlP) are most commonly gastrointestinal, psychiatric,
and neurologic. The precise etiology remains uncertain, but
large and small nerve fibers, as well as autonomic nerves,
have been shown to be affected. Abdominal pain is the most
common finding, but often occurs concomitantly with a
psychiatric or neurologiC disorder. There is usually no
abdominal rigidity, but fever, leukocytosis, diarrhea, tachycardia, and hypertension are often evident. Appendicitis or
other serious abdominal problems may be difficult to rule
out; in fact, some patients have been subjected to laparotomy for abdominal exploration. The most reliable test to
confirm AlP is the assay for porphobilinogen deaminase
activity in red blood cells, but often a good clinical history
and examination can give clues to the diagnosis. The autonomic manifestations, abdominal pain, and anxiety may be
reversed with propranolol. Hematin has also been shown to
reverse the neuropathy and abdominal pain by suppressing
aminolevulinic acid dehydratase levels. This patient’s history and multiple clinical findings are not consistent with
volume depletion, conversion disorder, appendicitis, or hysteria. Barbiturates, sulfonamides, gabapentin, and hormone
replacement therapy may cause or exacerbate AlP (Merritt,
pp. 549- 551).
All of the follOWing are characteristic of Diphtheritic
neuropathy EXCEPT?
A. The organism isolated from the laryn .. : and pharYlu is frequently Corynebacterium diphtheriae
B. The organisms often release an endotoxin that can cause myocarditis or asymmetric neuropathy
C. The neuropathy often begins with impaired visual function
D. Diphtheria and the associated neuropathy can be prevented by immunization
E. It often produces a demyelinating neuropathy
A. The organism isolated from the laryn .. : and pharYlu is frequently Corynebacterium diphtheriae
**B. The organisms often release an endotoxin that can cause myocarditis or asymmetric neuropathy **
C. The neuropathy often begins with impaired visual function
D. Diphtheria and the associated neuropathy can be prevented by immunization
E. It often produces a demyelinating neuropathy
Diphtheria infection produces neuropathy in about
20% of infected patients. Corynebacterium diphtheriae
is often isolated from the throat and releases an exotoxin
(not endotOXin) that can cause myocarditis or symmetric
neuropathy. The neuropathy is often characterized by poor
visual accommodation, paresis of throat muscles, quadriparesis, and slow nerve conduction velocities secondary to
demyelinating neuropathy. This disease can be prevented
by immunization and often responds to antibiotics (Merritt,
pp. 620-621).
The lesion in Korsakoff’s psychosis often involves what
brain structure?
A. Dorsomedial (DM) nucleus of the thalamus
B. Globose nucleus
C. Amygdala
D. Vermis of the cerebellum
E. Den ta te gyrus
**A. Dorsomedial (DM) nucleus of the thalamus **
B. Globose nucleus
C. Amygdala
D. Vermis of the cerebellum
E. Den ta te gyrus
Although Wernicke’s and Korsakoff’s syndromes are
often described together, these appear to be two distinct entities that result from thiamine deficiency. ‘Wernicke’s
syndrome consists of mental symptoms (global confusional
state), eye movement problems (nystagmus, lateral rectus
palsy, and lateral gaze palsy), and gait atmda , while Korsakoff’s
syndrome is a purely amnestic syndrome usually associated
with lesions in the DM nucleus of the thalamus and mammillary bodies. With treatment (thiamine), ocular abnormalities, nystagmus, and global confusion often improve to
varying degrees, leaving Korsakoff’s amnesia in about 80%
of patients. (Merritt, pp. 924-925).
That is the most common clinical feature of neuroborreliosis?
A. Painful sensory radiculitis that appears about 3 weeks after erythema migrans
B. Cranialmononeuropathy
C. Limb paresis
D. Arthralgia
E. Vertigo
**A. Painful sensory radiculitis that appears about 3 weeks after erythema migrans **
B. Cranialmononeuropathy
C. Limb paresis
D. Arthralgia
E. Vertigo
Lyme disease is caused by the tick-borne spirochete
Borrelia. burgdmferi. The most common clinical feature
is painful sensory radiculitis, which often appears about
3 weeks after the erythema migrans. Other problems
include cranial neuropathy (61%), limb weakness (12%),
oculomotor paresis, arthralgias, and cardiomyopathy.
Peripheral nerve biopsy shows perineurial and epineurial
vasculitis and a,’(:onal degeneration. The prognosis is good
after high-dose antibiotic treatment (usually penicillin)
(Merritt, p. 625).
Which of the following disorders is not a mitochondrial
DNA abnormality?
A. 1vIitochondriai myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
B. Myoclonic epilepsy with ragged red fibers (MERFF)
C. Leber’s hereditary optic neuropathy (LHON)
D. Kearns-Sayre syndrome (KSS)
E. Leigh’s disease
A. 1vIitochondriai myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
B. Myoclonic epilepsy with ragged red fibers (MERFF)
C. Leber’s hereditary optic neuropathy (LHON)
D. Kearns-Sayre syndrome (KSS)
E. Leigh’s disease
MELAS, MERFF, LHON, and I<SS are a group of disorders related to mitochondrial (mt) DNA abnormalities.
Although specific syndromes are often identified by a variety
of signs/symptoms, several clinical manifestations seem to
be prevalent with mtDNA abnormalities and include short
stature, hearing loss, and diabetes mellitus. Lactic acidosis
is the most common laboratory finding, while pathologic
sectioning reveals enlarged mitochondria in muscle fibers,
which forms the basis for ragged red fibers (RRF). Leigh’s
disease is a disorder of mitochondrial metabolism in which
the primary defect involves proteins encoded by nuclear
DNA instead of mitochondrial DNA (Ellison, pp. 457- 465).
A 74-year-old male with peripheral vascular disease presents to the emergency room with wild, involuntary
left arm flinging. Magnetic resonance imaging (MRl) of the
brain reveals ventriculomegaly, diffuse cortical atrophy, and
multiple lacunar infarcts.
What structure was likely affected to produce this clinical picture?
A. Lateral globus pallid us
B. Subthalamic nucleus
C. Thalamus
D. Red nucleus
E. Caudate nucleus
A
B
C
D
E
‘Vild, involuntary t1inging of an extremity
may be secondary to a cerebrovascular accident affecting
the subthalamic nucleus and is commonly referred to as
hemiballismus. Normally, glutamatergic projections from
the subthalamic nucleus to the Gpi and SNr suppress the
motor nuclei of the thalamus. After damage to the subthalamic nucleus, the thalamic motor neurons are disinhibited
and provide excessive activation of the motor cortex. The
dopaminergic projections, however, remain intact, providing
a constant and unbalanced activation of motor neurons
throughout the basal ganglia. This is the basis for using
neuroleptic agents, including dopamine receptor blockers
(haloperidol and perphenazine) and presynaptic dopamine
depletors (reserpine and tetrabenazine) to treat this disease
process (Tarsy, p. 9; Pritchard, pp. 330- 331).
A 74-year-old male with peripheral vascular disease presents to the emergency room with wild, involuntary
left arm flinging. Magnetic resonance imaging (MRl) of the
brain reveals ventriculomegaly, diffuse cortical atrophy, and
multiple lacunar infarcts.
What is the most likely neurotransmitter abnormality in this patient?
A. Dopamine
B. Glutamate
C. GABA
D. Norepinephrine
E. Acetylcholine
A. Dopamine
B. Glutamate
C. GABA
D. Norepinephrine
E. Acetylcholine
‘Vild, involuntary t1inging of an extremity
may be secondary to a cerebrovascular accident affecting
the subthalamic nucleus and is commonly referred to as
hemiballismus. Normally, glutamatergic projections from
the subthalamic nucleus to the Gpi and SNr suppress the
motor nuclei of the thalamus. After damage to the subthalamic nucleus, the thalamic motor neurons are disinhibited
and provide excessive activation of the motor cortex. The
dopaminergic projections, however, remain intact, providing
a constant and unbalanced activation of motor neurons
throughout the basal ganglia. This is the basis for using
neuroleptic agents, including dopamine receptor blockers
(haloperidol and perphenazine) and presynaptic dopamine
depletors (reserpine and tetrabenazine) to treat this disease
process (Tarsy, p. 9; Pritchard, pp. 330- 331).
A 74-year-old male with peripheral vascular disease presents to the emergency room with wild, involuntary
left arm flinging. Magnetic resonance imaging (MRl) of the
brain reveals ventriculomegaly, diffuse cortical atrophy, and
multiple lacunar infarcts.
Treatment may include all of the following EXCEPT?
A. Haloperidol
B. Perphenazine
C. Reserpine
D. Tetrabenazine
E. L-DOPA
A. Haloperidol
B. Perphenazine
C. Reserpine
D. Tetrabenazine
E. L-DOPA
‘Vild, involuntary t1inging of an extremity
may be secondary to a cerebrovascular accident affecting
the subthalamic nucleus and is commonly referred to as
hemiballismus. Normally, glutamatergic projections from
the subthalamic nucleus to the Gpi and SNr suppress the
motor nuclei of the thalamus. After damage to the subthalamic nucleus, the thalamic motor neurons are disinhibited
and provide excessive activation of the motor cortex. The
dopaminergic projections, however, remain intact, providing
a constant and unbalanced activation of motor neurons
throughout the basal ganglia. This is the basis for using
neuroleptic agents, including dopamine receptor blockers
(haloperidol and perphenazine) and presynaptic dopamine
depletors (reserpine and tetrabenazine) to treat this disease
process (Tarsy, p. 9; Pritchard, pp. 330- 331).
Vhich of the following about Huntington’s disease is
true?
A. It is a trinucleotide (CAG) repeat disorder that localizes to chromosome 4
B. It is an autosomal recessive condition with incomplete penetrance
C. Primarily a disease affecting the GABA/enkephalin projections from the amygdala to the striatum
D. More common in females than males
E. Has a later onset in successive generations
**A. It is a trinucleotide (CAG) repeat disorder that localizes to chromosome 4 **
B. It is an autosomal recessive condition with incomplete penetrance
C. Primarily a disease affecting the GABA/enkephalin projections from the amygdala to the striatum
D. More common in females than males
E. Has a later onset in successive generations
HD is an autosomal dominant condition with
complete penetrance that varies in symptom onset from
juveniles to late adulthood, with average onset between
35 and 40 years of age. Sporadic cases of I-ID are rare. HD, a trinucleotide repeat (CAG) disorder that localizes to chromosome 4, is more common in males than females and
exhibits anticipation (earlier onset in successive genera -
tions). The abnormal gene product results in protein conformational changes that lead to aggregation in the cytosol
and eventually cellular apoptosis. I-ID primarily affects
the GABl-Venkephalin projections from the striatum to the
external segment of the globus pallidus (indirect pathway),
resulting in thalamic facilitation of motor cortical areas and
hyperkinesia. Haloperidol may be effective in suppressing
abnormal movements early in the disease course, but the disease is inevitably progressive and usually results in death
within 20 years from symptom onset (Merritt, pp. 659- 664,
696- 699).
Select one answer with which it is most closely associated:
Cloverleaf-shaped skull
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
G. IGeeblattschadel
H. None of the above
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
**G. IGeeblattschadel **
H. None of the above
Craniosynostosis
refers to the premature closure of cranial sutures. It is more
common in males than females, and sagittal synostosis accounts for 50% of all cases of craniosynostosis. Sagittal
synostosis is identified in a child with an oblong-shaped skull (scaphocephaly or dolichocephaly), which results in an
increased AP skull diameter and a narrowed biparietal diameter. There is usually a palpable “keel” along the course
of the sagittal suture. Trigonocephaly refers to premature closure of the metopic suture, and results in a wedge-shaped
head. Unilateral suture closure (coronal or lambdoid) often results in a misshapen and unilaterally tlattened head (plagiocephaly), while premature bilateral coronal or lambdoid suture closure often results in a broad biparietal skull
diameter or brachycephaly. Other forms of craniosynostosis can result from premature closure of all the sutures,
which can result in a tower-shaped skull (oxycephaly) or a grossly abnormal-appearing skull with a cloverleaf shape
(Kleeblattschiidel). Lacunar skull can be seen in patients with Chiari II malformation, and does not result from premature closure of the cranial sutures. The indications for surgery with craniosynostosis are usually for intracranial
hypertension (VP shunt) and cosmetic deformity (Wilkins, pp. 3673-3679; Merritt, pp. 491- 492).
Select one answer with which it is most closely associated:
Tower skull
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
G. IGeeblattschadel
H. None of the above
A
B
C
D
E
F
G
H
Cra.niosynostosis
refers to the premature closure of cranial sutures. It is more
common in males than females, and sagittal synostosis
accounts for 50% of all cases of craniosynostosis. Sagittal
synostosis is identified in a child with an oblong-shaped skull
(scaphocephaly or dolichocephaly), which results in an
increased AP skull diameter and a narrowed biparietal diameter. There is usually a palpable “keel” along the course
of the sagittal suture. Trigonocephaly refers to premature
closure of the metopic suture, and results in a wedge-shaped
head. Unilateral suture closure (coronal or lambdoid) often
results in a misshapen and unilaterally tlattened head (plagiocephaly), while premature bilateral coronal or lambdoid
suture closure often results in a broad biparietal skull
diameter or brachycephaly. Other forms of craniosynostosis
can result from premature closure of all the sutures,
which can result in a tower-shaped skull (oxycephaly) or a
grossly abnormal-appearing skull with a cloverleaf shape
(Kleeblattschiidel). Lacunar skull can be seen in patients
with Chiari II malformation, and does not result from premature closure of the cranial sutures. The indications for
surgery with craniosynostosis are usually for intracranial
hypertension (VP shunt) and cosmetic deformity (Wilkins,
pp. 3673-3679; Merritt, pp. 491- 492).
Select one answer with which it is most closely associated:
Chiari malformation
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
G. IGeeblattschadel
H. None of the above
A
B
C
D
E
F
G
H
Cra.niosynostosis
refers to the premature closure of cranial sutures. It is more
common in males than females, and sagittal synostosis
accounts for 50% of all cases of craniosynostosis. Sagittal
synostosis is identified in a child with an oblong-shaped skull
(scaphocephaly or dolichocephaly), which results in an
increased AP skull diameter and a narrowed biparietal diameter. There is usually a palpable “keel” along the course
of the sagittal suture. Trigonocephaly refers to premature
closure of the metopic suture, and results in a wedge-shaped
head. Unilateral suture closure (coronal or lambdoid) often
results in a misshapen and unilaterally tlattened head (plagiocephaly), while premature bilateral coronal or lambdoid
suture closure often results in a broad biparietal skull
diameter or brachycephaly. Other forms of craniosynostosis
can result from premature closure of all the sutures,
which can result in a tower-shaped skull (oxycephaly) or a
grossly abnormal-appearing skull with a cloverleaf shape
(Kleeblattschiidel). Lacunar skull can be seen in patients
with Chiari II malformation, and does not result from premature closure of the cranial sutures. The indications for
surgery with craniosynostosis are usually for intracranial
hypertension (VP shunt) and cosmetic deformity (Wilkins,
pp. 3673-3679; Merritt, pp. 491- 492).
Select one answer with which it is most closely associated:
Metopic synostosis
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
G. IGeeblattschadel
H. None of the above
A
B
C
D
E
F
G
H
Cra.niosynostosis
refers to the premature closure of cranial sutures. It is more
common in males than females, and sagittal synostosis
accounts for 50% of all cases of craniosynostosis. Sagittal
synostosis is identified in a child with an oblong-shaped skull
(scaphocephaly or dolichocephaly), which results in an
increased AP skull diameter and a narrowed biparietal diameter. There is usually a palpable “keel” along the course
of the sagittal suture. Trigonocephaly refers to premature
closure of the metopic suture, and results in a wedge-shaped
head. Unilateral suture closure (coronal or lambdoid) often
results in a misshapen and unilaterally tlattened head (plagiocephaly), while premature bilateral coronal or lambdoid
suture closure often results in a broad biparietal skull
diameter or brachycephaly. Other forms of craniosynostosis
can result from premature closure of all the sutures,
which can result in a tower-shaped skull (oxycephaly) or a
grossly abnormal-appearing skull with a cloverleaf shape
(Kleeblattschiidel). Lacunar skull can be seen in patients
with Chiari II malformation, and does not result from premature closure of the cranial sutures. The indications for
surgery with craniosynostosis are usually for intracranial
hypertension (VP shunt) and cosmetic deformity (Wilkins,
pp. 3673-3679; Merritt, pp. 491- 492).
Select one answer with which it is most closely associated:
Unilaterally tlattened head
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
G. IGeeblattschadel
H. None of the above
A
B
C
D
E
F
G
H
Cra.niosynostosis
refers to the premature closure of cranial sutures. It is more
common in males than females, and sagittal synostosis
accounts for 50% of all cases of craniosynostosis. Sagittal
synostosis is identified in a child with an oblong-shaped skull
(scaphocephaly or dolichocephaly), which results in an
increased AP skull diameter and a narrowed biparietal diameter. There is usually a palpable “keel” along the course
of the sagittal suture. Trigonocephaly refers to premature
closure of the metopic suture, and results in a wedge-shaped
head. Unilateral suture closure (coronal or lambdoid) often
results in a misshapen and unilaterally tlattened head (plagiocephaly), while premature bilateral coronal or lambdoid
suture closure often results in a broad biparietal skull
diameter or brachycephaly. Other forms of craniosynostosis
can result from premature closure of all the sutures,
which can result in a tower-shaped skull (oxycephaly) or a
grossly abnormal-appearing skull with a cloverleaf shape
(Kleeblattschiidel). Lacunar skull can be seen in patients
with Chiari II malformation, and does not result from premature closure of the cranial sutures. The indications for
surgery with craniosynostosis are usually for intracranial
hypertension (VP shunt) and cosmetic deformity (Wilkins,
pp. 3673-3679; Merritt, pp. 491- 492).
Select one answer with which it is most closely associated:
Boat-shaped skull
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
G. IGeeblattschadel
H. None of the above
A
B
C
D
E
F
G
H
Cra.niosynostosis
refers to the premature closure of cranial sutures. It is more
common in males than females, and sagittal synostosis
accounts for 50% of all cases of craniosynostosis. Sagittal
synostosis is identified in a child with an oblong-shaped skull
(scaphocephaly or dolichocephaly), which results in an
increased AP skull diameter and a narrowed biparietal diameter. There is usually a palpable “keel” along the course
of the sagittal suture. Trigonocephaly refers to premature
closure of the metopic suture, and results in a wedge-shaped
head. Unilateral suture closure (coronal or lambdoid) often
results in a misshapen and unilaterally tlattened head (plagiocephaly), while premature bilateral coronal or lambdoid
suture closure often results in a broad biparietal skull
diameter or brachycephaly. Other forms of craniosynostosis
can result from premature closure of all the sutures,
which can result in a tower-shaped skull (oxycephaly) or a
grossly abnormal-appearing skull with a cloverleaf shape
(Kleeblattschiidel). Lacunar skull can be seen in patients
with Chiari II malformation, and does not result from premature closure of the cranial sutures. The indications for
surgery with craniosynostosis are usually for intracranial
hypertension (VP shunt) and cosmetic deformity (Wilkins,
pp. 3673-3679; Merritt, pp. 491- 492).
Select one answer with which it is most closely associated:
Premature sagittal suture closure
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
G. IGeeblattschadel
H. None of the above
A
B
C
D
E
F
G
H
Cra.niosynostosis
refers to the premature closure of cranial sutures. It is more
common in males than females, and sagittal synostosis
accounts for 50% of all cases of craniosynostosis. Sagittal
synostosis is identified in a child with an oblong-shaped skull
(scaphocephaly or dolichocephaly), which results in an
increased AP skull diameter and a narrowed biparietal diameter. There is usually a palpable “keel” along the course
of the sagittal suture. Trigonocephaly refers to premature
closure of the metopic suture, and results in a wedge-shaped
head. Unilateral suture closure (coronal or lambdoid) often
results in a misshapen and unilaterally tlattened head (plagiocephaly), while premature bilateral coronal or lambdoid
suture closure often results in a broad biparietal skull
diameter or brachycephaly. Other forms of craniosynostosis
can result from premature closure of all the sutures,
which can result in a tower-shaped skull (oxycephaly) or a
grossly abnormal-appearing skull with a cloverleaf shape
(Kleeblattschiidel). Lacunar skull can be seen in patients
with Chiari II malformation, and does not result from premature closure of the cranial sutures. The indications for
surgery with craniosynostosis are usually for intracranial
hypertension (VP shunt) and cosmetic deformity (Wilkins,
pp. 3673-3679; Merritt, pp. 491- 492).
Select one answer with which it is most closely associated:
Bilaterally flattened head
A. Trigonocephaly
B. Scaphocephaly
C. Plagiocephaly
D. Brachycephaly
E. Oxycephaly
F. Lacunar skull
G. IGeeblattschadel
H. None of the above
A
B
C
D
E
F
G
H
Cra.niosynostosis
refers to the premature closure of cranial sutures. It is more
common in males than females, and sagittal synostosis
accounts for 50% of all cases of craniosynostosis. Sagittal
synostosis is identified in a child with an oblong-shaped skull
(scaphocephaly or dolichocephaly), which results in an
increased AP skull diameter and a narrowed biparietal diameter. There is usually a palpable “keel” along the course
of the sagittal suture. Trigonocephaly refers to premature
closure of the metopic suture, and results in a wedge-shaped
head. Unilateral suture closure (coronal or lambdoid) often
results in a misshapen and unilaterally tlattened head (plagiocephaly), while premature bilateral coronal or lambdoid
suture closure often results in a broad biparietal skull
diameter or brachycephaly. Other forms of craniosynostosis
can result from premature closure of all the sutures,
which can result in a tower-shaped skull (oxycephaly) or a
grossly abnormal-appearing skull with a cloverleaf shape
(Kleeblattschiidel). Lacunar skull can be seen in patients
with Chiari II malformation, and does not result from premature closure of the cranial sutures. The indications for
surgery with craniosynostosis are usually for intracranial
hypertension (VP shunt) and cosmetic deformity (Wilkins,
pp. 3673-3679; Merritt, pp. 491- 492).
A 34-year-old male with HIV presents to the emergency
room with headaches, confusion, and a right homonymous
hemianopia . Tl-weighted MRI of the brain with contrast
shows a 3- by 4-cm nonenhancing left parieto-occipital
lesion, which exhibits increased signal on FLAIR IvfRI
images. What is the most likely etiology of this lesion ?
A. A measles infection that disseminated to the brain
B. A monophasic autoimmune attack by T cells against myelin basic protein
C. Perivenular inflammation and demyelination
D. Reactivation of a papovavirus against oligodendrocytes in the subcortical white matter
E. None of the above
A
B
C
D
E
Progressive multifocalleukoencephalopathy (PML) is
a subacute demyelinating disease that results from reactivation of a papovavirus (JC virus) in immunocompromised
patients. The reactivated JC virus infects oligodendrocytes,
and results in multifocal areas of demyelination predominantly in the subcortical white matter. PML affects 4% of
AIDS patients and has been associated with other illnesses
characterized by defective cell-mediated immunity, such as
lymphomas and leukemias. The lesions of PML are often
parieto-occipital, nonenhancing, and exhibit increased signal on T2 and FLAIR MRI with no mass effect. Symptoms
of PML depend on the location of lesions and include hemiparesis, visual field cuts, sensory changes, and eventually
dementia. The diagnosis of PML is established by biopsy or
PCR amplification of JC virus RNA in the CSF. The prognosis of PML is poor, and approximately 80% of patients die within
9 months of symptom onset. Choices A, B, and C are associated with subacute sclerosing panencephalitis (A) and acute
disseminated encephalomyelitis (B and C) (Merritt, pp. 151-
156)
Patients who undergo rapid correction of hyponatremia
are at risk of developing which of the following problems that
can lead to seizures, dysarthria, pseudobulbar palsy, coma,
and/or death?
A. Marchiafava-Bignami disease
B. Central pontine myelinolysis
C. Acute disseminated leukoencephalopathy
D. Krabbe’s disease
E. Alexander’s disease
A. Marchiafava-Bignami disease
**B. Central pontine myelinolysis **
C. Acute disseminated leukoencephalopathy
D. Krabbe’s disease
E. Alexander’s disease
Central pontine myelinolysis (CPM) is an acute
demyelinating condition that primarily affects the pons,
although 10% of cases have concomitant extrapontine
myelinolysis. CPlvI most commonly occurs in alcoholic or
malnourished patients who experience rapid correction of
chronic hyponatremia. Neurologic symptoms usually occur
2 to 3 days after correction of the hyponatremia and
vary extenSively. Symptoms include seizures, dysarthria ,
dysphagia , pseudobulbar palsy, behavioral abnormalities,
hyperreflexia , quadriplegia, and coma. Patients may also
be completely asymptomatic with CPM. In symptomatic
patients, the course is usually rapid and progresses to death
within days to weeks of symptom onset. The incidence of
CPII’1 is extremely low if the serum sodium is corrected by no
more than 12 mmollL in 24 hours. MRI, brainstem auditory
evoked potentials, and CSF studies (increased MBP and
protein levels) can all assist in the diagnosis of CPM. Acute
disseminated leukoencephalomyelitis, Krabbe’s disease,
Alexander’s disease, and Marchiafava-Bignami disease do
not result from rapid correction of hyponatremia (Merritt,
pp. 794- 796).
A 16-year-old male is trying out for his high school
soccer team and noticed severe leg cramps that were relentless in nature. Although he has experienced this problem
in the past during exercise, his cramps were never this
severe. His neurologic exam was unremarkable, but he was
found to have an abnormally deficient level of the enzyme
myophosphorylase.
What is the likely diagnosis?
A. Von Gierke’s disease
B. Pompe’s disease
C. McArdle’s disease
D. Cori’s disease
E. Late-onset Duchenne’s dystrophy
A. Von Gierke’s disease
B. Pompe’s disease
**C. McArdle’s disease **
D. Cori’s disease
E. Late-onset Duchenne’s dystrophy
Glycogen storage diseases are primarily
autosomal recessive disorde rs that result from deficiencies
of the enzymes il1volved with the metabolism of glucose
and glycogen. There are more than 12 different types of
glycogenoses; they affect different tissues depending on the
expression of the defective enzyme. Type I glycogenosis
(Von Gierke’s disease) is characterized by deficiencies of
glucose-6-phosphatase and primarily affects the liver. Patients
with Von Gierke’s disease present with hepatomegaly and
experience severe episodes of hypoglycemia. Type II
glycogenosis (Pompe’s disease) results from deficiencies
of the enzyme acid maltase a-glucosidase and has three
different forms. The infantile type of Pompe’s disease results
in hypotonia, macroglossia , hepatomegaly, cardiomegaly,
and death by 2 years of age secondary to ca rdiac failure. The
juvenile and adulthood variants of Pompe’s disease are less
severe and present with myopathy. Type III glycogenosis
(debranching enzyme defiCiency or Cori’s disease) is rare
and results in hepatomegaly, seizures, and growth retardation in children secondary to deficiencies of the debranching enzyme amylo-l,6-glucosidase. Type V glycogenosis
(McArdle’s disease) is a more benign condition that results in
muscle cramps and occaSionally myoglobinuria during intense exercise due to deficiencies of the enzyme myophosphorylase. Type VII glycogenosis (Tauri’s disease) presents
with myalgias, cramps, and early fatigue with exercise (similar to McArdle’s disease) in children and is secondary to
*
A 16-year-old male is trying out for his high school
soccer team and noticed severe leg cramps that were relentless in nature. Although he has experienced this problem in the past during exercise, his cramps were never this
severe. His neurologic exam was unremarkable, but he was
found to have an abnormally deficient level of the enzyme
myophosphorylase.
What is most likely to be seen on urinalysis in this patient?
A. Jyoglobinuria
B. Salt wasting
C. Hyperglycemia
D. Hypercalcemia
E. Hyperphosphatemia
A
B
C
D
E
Glycogen storage diseases are primarily
autosomal recessive disorde rs that result from deficiencies
of the enzymes il1volved with the metabolism of glucose
and glycogen. There are more than 12 different types of
glycogenoses; they affect different tissues depending on the
expression of the defective enzyme. Type I glycogenosis
(Von Gierke’s disease) is characterized by deficiencies of
glucose-6-phosphatase and primarily affects the liver. Patients
with Von Gierke’s disease present with hepatomegaly and
experience severe episodes of hypoglycemia. Type II
glycogenosis (Pompe’s disease) results from deficiencies
of the enzyme acid maltase a-glucosidase and has three
different forms. The infantile type of Pompe’s disease results
in hypotonia, macroglossia , hepatomegaly, cardiomegaly,
and death by 2 years of age secondary to ca rdiac failure. The
juvenile and adulthood variants of Pompe’s disease are less
severe and present with myopathy. Type III glycogenosis
(debranching enzyme defiCiency or Cori’s disease) is rare
and results in hepatomegaly, seizures, and growth retardation in children secondary to deficiencies of the debranching enzyme amylo-l,6-glucosidase. Type V glycogenosis
(McArdle’s disease) is a more benign condition that results in
muscle cramps and occaSionally myoglobinuria during intense exercise due to deficiencies of the enzyme myophosphorylase. Type VII glycogenosis (Tauri’s disease) presents
with myalgias, cramps, and early fatigue with exercise (similar to McArdle’s disease) in children and is secondary to
A 16-year-old male is trying out for his high school
soccer team and noticed severe leg cramps that were relentless in nature. Although he has experienced this problem
in the past during exercise, his cramps were never this
severe. His neurologic exam was unremarkable, but he was
found to have an abnormally deficient level of the enzyme
myophosphorylase.
What is the mode of transmission of this disease
process ?
A. J<{yoglobinuria
B. Salt wasting
C. Hyperglycemia
D. Hypercalcemia
E. Hyperphosphatemia
A
**B **
C
D
E
Glycogen storage diseases are primarily
autosomal recessive disorde rs that result from deficiencies
of the enzymes il1volved with the metabolism of glucose
and glycogen. There are more than 12 different types of
glycogenoses; they affect different tissues depending on the
expression of the defective enzyme. Type I glycogenosis
(Von Gierke’s disease) is characterized by deficiencies of
glucose-6-phosphatase and primarily affects the liver. Patients
with Von Gierke’s disease present with hepatomegaly and
experience severe episodes of hypoglycemia. Type II
glycogenosis (Pompe’s disease) results from deficiencies
of the enzyme acid maltase a-glucosidase and has three
different forms. The infantile type of Pompe’s disease results
in hypotonia, macroglossia , hepatomegaly, cardiomegaly,
and death by 2 years of age secondary to ca rdiac failure. The
juvenile and adulthood variants of Pompe’s disease are less
severe and present with myopathy. Type III glycogenosis
(debranching enzyme defiCiency or Cori’s disease) is rare
and results in hepatomegaly, seizures, and growth retardation in children secondary to deficiencies of the debranching enzyme amylo-l,6-glucosidase. Type V glycogenosis
(McArdle’s disease) is a more benign condition that results in
muscle cramps and occaSionally myoglobinuria during intense exercise due to deficiencies of the enzyme myophosphorylase. Type VII glycogenosis (Tauri’s disease) presents
with myalgias, cramps, and early fatigue with exercise (similar to McArdle’s disease) in children and is secondary to
All of the following are features of Friedreich’s ataxia
EXCEPT?
A. It is an autosomal recessive trinucleotide repeat (GAA) disorder involving the frataxin gene
B. Onset of symptoms usually occurs by the age of 10 to 15 years
C. Often results in the degeneration of the posterior columns and spinocerebellar tracts
D. Cerebellar and cerebral cortical ischemic changes can often be associated with concomitant cardiomyopathy
E. With effective treatment, the disease progression associated with neuronal degeneration can be halted about
60% of the time , although heart failure is typically refractory to therapy
A
B
C
D
E
Friedreich’s ataxia (FA) is an autosomal recessive
trinucleotide repeat (GAA) disorder that involves repeat expansion in the frataxin gene, which encodes a mitochondrial
protein and is located on chromosome 9q. The onset of
symptoms with FA usually occurs by the age of 10 to IS
years; it is usually fatal by the fifth to sL’-:th decades of life. FA
results in degeneration of the posterior columns, spinocerebellar tracts, corticospinal tracts, and Clarke’s nucleus in
the spinal cord. The medulla (vestibular, cochlear, gracile,
and accessory cuneate nuclei), subthalamic nucleus, and
pallidum also exhibit evidence of gliosis. Symptoms of FA
include ata.xic gait, dysarthria , areflexia, lower limb weakness, and loss of vibratory sense and proprioception . Some
patients with 1<”1\ also develop cardiomyopathy, which can
lead to cerebellar and cerebral cortical ischemic changes.
FA is associated with the development of peripheral neuropathy as well, with concomitant degeneration of the dorsal
root ganglia. Orthopedic deformities, such as hammertoes,
kyphoscoliosis, and pes cavus are also common. There is no
effective treatment for FA (Merritt, pp. 645-646).
Lesch-Nyhan syndrome is an X-linked recessive disorder
that results from a deficiency of what enzyme?
A. Glucose transporter-l protein
B. Phenylalanine hydroxylase
C. Hypoxanthine-guanine phosphoribosyltransferase
D. Cystathionine synthase
E. Purine decarboxylase
A. Glucose transporter-l protein
B. Phenylalanine hydroxylase
**C. Hypoxanthine-guanine phosphoribosyltransferase **
D. Cystathionine synthase
E. Purine decarboxylase
Lesch-Nyhan syndrome (LNS) is an X-linked
recessive disorder of purine metabolism that results from
deficiencies of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Levels of uric acid are increased
in LNS secondary to increased purine metabolism, and
urate deposition can result in severe nephropathy and gout.
Patients with LNS exhibit mental retardation, choreoathetosis, spasticity, self-mutilating behavior, and usually die from
renal failure in the second or third decade. Glucose transporter protein syndrome (GTPS) results from deficiencies
of the glucose transporter-l protein (GLUT-I), which is
responsible for the facilitative transport of glucose across
the blood-brain barrier. Patients with GTPS exhibit decreased CSF glucose levels (hypoglycorrhachia), seizures,
developmental delay, microcephaly, at~Lxia, and hypotonia.
Phenylketonuria is an autosomal recessive disorder resulting
from phenylalanine hydroxylase defiCiency, and cystathionine ~-synthase deficiency results in homocystinuria (Merritt,
pp. 512- 513).
Select one answer with which it is most closely associated:
May be secondary to weakness/paralysis of the pretibial
and peroneal muscles
A. Scissoring gait
B. Festinating gait
C. Hemiplegic gait
D. Steppage gait
E. Waddling gait
F. Reeling gait
G. Toppling gait
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated:
Parkinson’s disease
A. Scissoring gait
B. Festinating gait
C. Hemiplegic gait
D. Steppage gait
E. Waddling gait
F. Reeling gait
G. Toppling gait
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated:Associated with circumduction of the leg
A. Scissoring gait
B. Festinating gait
C. Hemiplegic gait
D. Steppage gait
E. Waddling gait
F. Reeling gait
G. Toppling gait
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated:
Chronic or progressive Wohlfart-Kugelberg-Welander syndrome
A. Scissoring gait
B. Festinating gait
C. Hemiplegic gait
D. Steppage gait
E. Waddling gait
F. Reeling gait
G. Toppling gait
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated:
May accompany a lesion in the thoracic spine
A. Scissoring gait
B. Festinating gait
C. Hemiplegic gait
D. Steppage gait
E. Waddling gait
F. Reeling gait
G. Toppling gait
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated:
Often seen with foot drop
A. Scissoring gait
B. Festinating gait
C. Hemiplegic gait
D. Steppage gait
E. Waddling gait
F. Reeling gait
G. Toppling gait
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated:
Internal capsule infarct
A. Scissoring gait
B. Festinating gait
C. Hemiplegic gait
D. Steppage gait
E. Waddling gait
F. Reeling gait
G. Toppling gait
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated:
Anterior and lateral borders of shoe sole often worn clown
A. Scissoring gait
B. Festinating gait
C. Hemiplegic gait
D. Steppage gait
E. Waddling gait
F. Reeling gait
G. Toppling gait
H. None of the above
A
B
C
D
E
F
G
H
A 34-year-old female suddenly develops a left
hemiparesis. She experienced a deep venous thrombosis in
her left leg about 4 years earlier.
The most likely cause of this patient’s deficit is
A. Atrial fibrillation
B. Metastatic brain tumor
C. Multiple sclerosis
D. Lupus anticoagulant
E. Atrial septal defect
A.
B
C
D
E
A 34-year-old female suddenly develops a left
hemiparesis. She experienced a deep venous thrombosis in
her left leg about 4 years earlier. A nonspecific laboratory feature of this disorder may
include which one of the following?
A. Prolonged PT and PTT that does not reverse when the patient’s plasma is mL;:ed with normal plasma
B. Oligoclonal bands in the CSF
C. Abnormal dystrophin gene
D. Elevation of IgE antibodies in the serum
E. None of the above
**A. Prolonged PT and PTT that does not reverse when the patient’s plasma is mL;:ed with normal plasma **
B. Oligoclonal bands in the CSF
C. Abnormal dystrophin gene
D. Elevation of IgE antibodies in the serum
E. None of the above
A 34-year-old female suddenly develops a left
hemiparesis. She experienced a deep venous thrombosis in
her left leg about 4 years earlier.
Which of the following can confirm the diagnosis?
A. Demonstrating an inhibitor reaction within the clotting system using the thromboplastin inhibition test
(TTl) and dilute Russel venom viper assay
B. Confirming a defect in factor V
C. Multiple lesions in the deep white matter on magnetic resonance imaging (MRl)
D. Noting the presence of an atrial septal defect on echocardiography
E. Excessive bleeding after shaving
**A. Demonstrating an inhibitor reaction within the clotting system using the thromboplastin inhibition test **
(TTl) and dilute Russel venom viper assay
B. Confirming a defect in factor V
C. Multiple lesions in the deep white matter on magnetic resonance imaging (MRl)
D. Noting the presence of an atrial septal defect on echocardiography
E. Excessive bleeding after shaving
A 34-year-old female suddenly develops a left
hemiparesis. She experienced a deep venous thrombosis in
her left leg about 4 years earlier.
Optimal therapy for this disease may include
1. Maintaining an international normalized ratio (INR) of
at least 3.0 with warfarin
2. Corticosteroids
3. Antiplatelet agents
4. Plasmapheresis
A. 1,2, and 3 are correct
B. 1 and3 are correct
C. 2 and4 are correct
D. Only 4 is correct
E. All of the above
**A. 1,2, and 3 are correct **
B. 1 and3 are correct
C. 2 and4 are correct
D. Only 4 is correct
E. All of the above
A previously healthy 72-year-old female develops
auditory hallucinations and depression. The patient has
difficulty providing the details but believes that her son is
speaking to her. She is not cooperative during the interview,
but the physical examination is unremarkable. She takes
multivitamins and an aspirin each day.
Which of the following is the most likely diagnosis?
A. Hyperthyroidism
B. Complex partial seizures
C. Alzheimer’s disease
D. Multi-infarct dementia
E. Hyperparathyroidism
A. Hyperthyroidism
B. Complex partial seizures
C. Alzheimer’s disease
D. Multi-infarct dementia
E. Hyperparathyroidism
A previously healthy 72-year-old female develops
auditory hallucinations and depression. The patient has
difficulty providing the details but believes that her son is
speaking to her. She is not cooperative during the interview,
but the physical examination is unremarkable. She takes
multivitamins and an aspirin each day.
The most common way to obtain this diagnosis includes
A. Obtaining a thyroid-stimulating hormone (TSH) level
B. Electroencephalography (EEG)
C. Detailed history and physical examination
D. Brain biopsy
E. Obtaining an angiotensin-converting enzyme (ACE) level
A. Obtaining a thyroid-stimulating hormone (TSH) level
B. Electroencephalography (EEG)
C. Detailed history and physical examination
D. Brain biopsy
E. Obtaining an angiotensin-converting enzyme (ACE) level
A previously healthy 72-year-old female develops
auditory hallucinations and depression. The patient has
difficulty providing the details but believes that her son is
speaking to her. She is not cooperative during the interview,
but the physical examination is unremarkable. She takes
multivitamins and an aspirin each day.
A treatment regimen for the auditory hallucinations
could include
A. Tacrine
B. Donepezil
C. Vitamin E
D. Haloperidol
E. All of the above
A. Tacrine
B. Donepezil
C. Vitamin E
**D. Haloperidol **
E. All of the above
A 45-year-old lawyer complains of difficulty holding and
using his pen. He notes the development of right arm and
hand spasms for the past 3 months only when writing.
Physical examination is unremarkable. What is the most
likely etiology for this patient’s signs/symptoms?
A. Early Parkinson’s disease
B. Athetosis
C. C7 radiculopathy
D. Dystonia
E. Carpal tunnel syndrome
A. Early Parkinson’s disease
B. Athetosis
C. C7 radiculopathy
D. Dystonia
E. Carpal tunnel syndrome
Writer’s cramp is a focal dystonia of unlmown
etiology. Patients develop sustained muscle contractions
that yield abnormal postures or twisting movements when
attempting to write. It differs from athetosis by the persistent
nature of the abnormal posture or movement. It can be focal
(writer’s cramp), segmental (e.g., face), or rarely multifocal
(e.g., face and leg). Dystonia can also be either primary (inherited) or secondary (stroke, toxin, medication, etc.). The
medical treatment is variable, often empiric, and can include
local botulinum toxin injections, anticholinergics, benzodiazepines, anticonvulsants, lithium, reserpine, baclofen, and
levodopa. Micrographia can be seen with Parkinson’s disease
but is often accompanied by signs of rigidity, tremor, and
bradyltinesia. Carpal tunnel syndrome is due to pressure
on the median nerve and is associated with numbness,
wealmess, and pain. A cervical radiculopathy rarely if
ever presents with the findings seen in this patient; instead,
there is pain, weakness, numbness, and retlex changes in
the distribution of the affected nerve (Merritt, pp. 669-
677).
Select one answer with which it is most closely associated: Antibody isolated with small cell lung carcinoma; sensory neuropathy, encephalomyelitis
A. Anti-I-Iu antibody
B. Anti-Ri antibody
C. A.nti-Jo antibody
D. Anti-Yo antibody
E. Anti-VGCC antibody
F. Anti-Tr antibody
G. Anti-Ta antibody
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated: Lambert-Eaton myasthenic syndrome
A. Anti-I-Iu antibody
B. Anti-Ri antibody
C. A.nti-Jo antibody
D. Anti-Yo antibody
E. Anti-VGCC antibody
F. Anti-Tr antibody
G. Anti-Ta antibody
H. None of the above
A
B
C
D
**E **
F
G
H
Select one answer with which it is most closely associated: Opsoclonus-myoclonus syndrome
A. Anti-I-Iu antibody
B. Anti-Ri antibody
C. A.nti-Jo antibody
D. Anti-Yo antibody
E. Anti-VGCC antibody
F. Anti-Tr antibody
G. Anti-Ta antibody
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated: Reacts with Purkinje cells of the cerebellum
A. Anti-I-Iu antibody
B. Anti-Ri antibody
C. A.nti-Jo antibody
D. Anti-Yo antibody
E. Anti-VGCC antibody
F. Anti-Tr antibody
G. Anti-Ta antibody
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated: Polymyositis
A. Anti-I-Iu antibody
B. Anti-Ri antibody
C. A.nti-Jo antibody
D. Anti-Yo antibody
E. Anti-VGCC antibody
F. Anti-Tr antibody
G. Anti-Ta antibody
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated: Hodgkin disease
A. Anti-I-Iu antibody
B. Anti-Ri antibody
C. A.nti-Jo antibody
D. Anti-Yo antibody
E. Anti-VGCC antibody
F. Anti-Tr antibody
G. Anti-Ta antibody
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated: Antibody primarily found in patients with testicular
cancer
A. Anti-I-Iu antibody
B. Anti-Ri antibody
C. A.nti-Jo antibody
D. Anti-Yo antibody
E. Anti-VGCC antibody
F. Anti-Tr antibody
G. Anti-Ta antibody
H. None of the above
A
B
C
D
E
F
G
H
Select one answer with which it is most closely associated: Retinal degeneration
A. Anti-I-Iu antibody
B. Anti-Ri antibody
C. A.nti-Jo antibody
D. Anti-Yo antibody
E. Anti-VGCC antibody
F. Anti-Tr antibody
G. Anti-Ta antibody
H. None of the above
A
B
C
D
E
F
G
H
A mother brings her 4-month-old male infant to your
office after witnessing an episode characterized by sudden
extensor spasms involving the head, trunk, and limbs. The
EEG is most likely to show
A. 3-Hz spike-wave discharges
B. Periodic lateralizing epileptiform discharges (PLEDs)
C. I-Iypsarrhythmia
D. Generalized slowing
E. 4- to 6-Hz spike waves
A. 3-Hz spike-wave discharges
B. Periodic lateralizing epileptiform discharges (PLEDs)
**C. I-Iypsarrhythmia **
D. Generalized slowing
E. 4- to 6-Hz spike waves
Increased I-I-reflex latencies in conjunction with normal
F wave latencies localize lesions to what location?
A. Neuromuscular junction
B. Anterior horn cells of the spinal cord
C. Dorsal roots
D. Ventral roots
E. None of the above
A. Neuromuscular junction
B. Anterior horn cells of the spinal cord
**C. Dorsal roots **
D. Ventral roots
E. None of the above
The F wave and H reflex evaluate certain aspects of
nerve conduction. ,”Vhereas sensory nerve action potentials
(SNAP) and compound muscle action potentials (CMAP) are
best at evaluating distal nerves, the F wave and H retlex are
the two most commonly used methods in evaluating the
proximal portions of nerves. The F wave (F response) measures the entire length of the nerve, including the ventral root.
It results from supramaximal stimulus of distal motor nerves
with impulse propagation in an antidromic direction. The
stimulus travels proximally up the motor nerve and stimulates the anterior horn 1110tor neurons. The variable backfiring of nonrefractory anterior horn cells then results in
impulse propagation back down the ventral root and motor
nerve to the distal electrode. F-wave latencies are most sensitive for disorders causing generalized or multifocal demyelination (GBS or extensive plexopathies). This is because any
focal conduction slowing is diluted by the normal conduction
velocity over most of the F-wave pathway. The H retlex is the
electrical equivalent of the stretch retlex and is obtained with submaximal stimulation of the median and tibial nerves. The
H retlex therefore involves an afferent (sensory) limb and
an efferent (motor) limb, similar to monosynaptic retlex
arcs. The I-I retlex exhibits increased latency in proximal
neuropathies and radiculopathies (Le., C6, C7, or Sl root
lesions). Increased I-I-reflex latencies in conjunction with
normal F-wave latencies localize lesions to the d
All of the following are characteristic of demyelinating
neuropathies on motor nerve conduction studies EXCEPT?
A. Prolonged distal latency
B. Decreased segmental velocity
C. Normal or slightly decreased evoked response amplitude
D. Decreased F wave
E. Temporal dispersion
A. Prolonged distal latency
B. Decreased segmental velocity
C. Normal or slightly decreased evoked response amplitude
D. Decreased F wave
E. Temporal dispersion
Nerve conduction studies (NCSs) vary in conditions
that result in either demyelination or a;wnal degeneration.
Conduction velocity, amplitude of evoked response, latency
(latency from the stimulus to recording electrodes), and
duration of response all provide information about the integrity of 1110tor and sensory nerves. NCSs of the sensory
nerves generate a sensory nerve action potential (SNAP),
while NCSs of 1110tor nerves generate a compound muscle
action potential (CMAP). Refer to Table 3.66A for summary
of electrophysiologic findings with axonal degeneration
and demyelinating neuropathies (Merritt, pp. 73- 75; Geyer,
pp. 226-227; Youmans, pp. 3851- 3855).
All of the following are characteristics of normal
single-motor-unit potentials on electromyography (EMG)
EXCEPT?
A. Duration of 5- 15 ms
B. Two to four phases
C. 0.5-3 mV
D. Fibrillation potentials
E. Insertional activity
A. Duration of 5- 15 ms
B. Two to four phases
C. 0.5-3 mV
D. Fibrillation potentials
E. Insertional activity
Normal muscle potentials appear as waveforms with a
duration of 5 to 15 ms, 2 to 4 phases, and an amplitude of 0.5
to 3 mV. Fibrillation potentials are abnormal, involuntary
contractions of single muscle fibers that cannot be seen
through the sltin . They indicate reinnervation of muscle
fibers from a variety of causes. Positive sharp waves are similar to fibrillation potentials and appear on EMG as a downward wave after needle insertion, which is indicative of
needle irritation of denervated muscle fibers. Insertional
activity is the discharge of a single muscle fiber during insertion of the EMG needle and does not necessarily indicate
abnormality unless significantly increased activity is seen.
Increased insertional activity can also indicate irritable muscle fibers from denervation. Polyphasic units (greater than
four phases) are abnormal, and can be seen in both neurogenic and myogenic disorders. In summary, with neurogenic
disorders, motor units appear of longer duration and higher
amplitude than normal potentials and are usually polyphasic. Myopathic potentials are just the opposite, with shorter
durations and smaller amplitudes than normal potentials
and are also usually polyphasic. Fibrillations, positive sharp
waves, and increased insertional activity can be seen with
denervated muscle (Merritt, pp. 75-76; Youmans, pp. 3856-
3857).
Select one or more than one answer with which it is
most closely associated: Sleep spindles and K complexes
A. Stage 1
B. Stage 2
C. Stage 3
D. Stage 4
E. Rapid eye movement (REId)
F. None of the above
A
**B **
C
D
E
F
Select one or more than one answer with which it is
most closely associated: > 50% delta waves
A. Stage 1
B. Stage 2
C. Stage 3
D. Stage 4
E. Rapid eye movement (REId)
F. None of the above
A
B
C
D
E
F
Select one or more than one answer with which it is
most closely associated: Transition from C/. waves to slow low-voltage activity
A. Stage 1
B. Stage 2
C. Stage 3
D. Stage 4
E. Rapid eye movement (REId)
F. None of the above
A
B
C
D
E
F
This electroencephalographic (EEG) finding (Figure
3.74Q) is most consistent with what abnormality?
4.A. Creutzfeldt-Jakob disease
B. Hepatic encephalopathy
C. Massive cerebral infarction
D. Focal motor seizures
E. Brain death
A
B
C
D
E
Triphasic waves are a type of generalized, pseudoperiodic pattern consisting of sharp discharges occurring at
typical frequencies of 1 to 2 per second. This is a nonspecific
pattern and has to be distinguished from other generalized
periodic patterns (CJD, status epilepticus, and hypoxicischemic injury). Approximately 50% of patients with
triphasic waves have hepatic encephalopathy; the other
half have other toxic-metabolic encephalopathies, including renal failure. Creutzfeldt-Jalcob disease is characterized by
generalized periodic sharp waves, an acute destructive
cerebral lesion (stroke) often results in periodic lateralizing
epileptiform discharges (PLEDs) on EEG, and brain death is
marked by no activity on EEG (Merritt, pp. 64-65).
The most likely clinical finding associated with the EEG
(Figure 3.76- 3. 78Q) in this lO-year-old girl would include?
A. Drop attacks
B. Infantile spasms
C. Staring spells
D. Oral-alimentaryautisms
E. Myoclonic jerks
A
B
C
D
E
The absence seizure is characterized by
a generalized, symmetric, and synchronous 3-Hz spikeslow-wave discharge. This is diagnostic of an absence seizure
and is best treated with medications such as ethosuximide
(Zarontin) or sodium valproate (Depakote). The common
activating procedures usually performed on patients with
suspected seizures are hyperventilation, photic stimulation,
and sleep. As soon as 3-Hz spike-and-wave bursts stop and
the seizure ceases, the EEG returns to its interictal state
immediately with no postictal depression or slowing (Merritt,
p. 66; Rolak, pp. 365- 366).
In general, what seizure-activating procedures can be
employed to induce seizure activity?
A. Hyperventilation
B. Sleep deprivation
C. Photic stimulation
D. 1 and 3 only
E. All of the above
A. Hyperventilation
B. Sleep deprivation
C. Photic stimulation
D. 1 and 3 only
E. All of the above
The absence seizure is characterized by
a generalized, symmetric, and synchronous 3-Hz spikeslow-wave discharge. This is diagnostic of an absence seizure
and is best treated with medications such as ethosuximide
(Zarontin) or sodium valproate (Depakote). The common
activating procedures usually performed on patients with
suspected seizures are hyperventilation, photic stimulation,
and sleep. As soon as 3-Hz spike-and-wave bursts stop and
the seizure ceases, the EEG returns to its interictal state
immediately with no postictal depression or slowing (Merritt,
p. 66; Rolak, pp. 365- 366).
As soon as the seizure stops in this patient, the EEG
activity is expected to
A. Return to the interictal state immediately with no postictal depression or slowing
B. Return to the interictal state after a brief period of lateralizing discharges
C. Return to the interictal state after a brief period of paroxysmal bi-occipital activity
D. Resume with normal mu rhythm often seen with this disorder
E. Return to the interictal state with marked depression of background activity in all regions
**A. Return to the interictal state immediately with no postictal depression or slowing **
B. Return to the interictal state after a brief period of lateralizing discharges
C. Return to the interictal state after a brief period of paroxysmal bi-occipital activity
D. Resume with normal mu rhythm often seen with this disorder
E. Return to the interictal state with marked depression of background activity in all regions
The absence seizure is characterized by
a generalized, symmetric, and synchronous 3-Hz spikeslow-wave discharge. This is diagnostic of an absence seizure
and is best treated with medications such as ethosuximide
(Zarontin) or sodium valproate (Depakote). The common
activating procedures usually performed on patients with
suspected seizures are hyperventilation, photic stimulation,
and sleep. As soon as 3-Hz spike-and-wave bursts stop and
the seizure ceases, the EEG returns to its interictal state
immediately with no postictal depression or slowing (Merritt,
p. 66; Rolak, pp. 365- 366).
How can one attempt to normalize the rhythm depicted
by this EEG (Figure 3.86Q)?
A. Dilantin administration
B. Surgical procedure
C. Phenobarbital administra tion
D. ACTH administration
E. This rhythm has classically been unresponsive to any medical or surgical intervention
A. Dilantin administration
**B. Surgical procedure **
C. Phenobarbital administra tion
D. ACTH administration
E. This rhythm has classically been unresponsive to any medical or surgical intervention
A breach rhythm is a rhythmic sharp wave pattern
that appears in the region of a skull defect. The skull acts as a
“low-pass filter” and screens out high frequencies generated
by the cortex. The skull defect allows these higher frequencies to appear. This is the EEG of a man with a history of head
trauma and a surgical scar noted within the right frontocentral region (F4 , C4) (Rolal~, pp. 359-360).
Match the type of aphasia (numbered items)
with the associated clinical findings (lettered options in
Table 3.101-3.107Q), using each answer once. (-) indicates
abnormality, (+) indicates no abnormality, (+/-) indicates
abnormality may be present.
Mixed transcortical
A.A
B.B
C.C
D.D
E.E
F.F
G.G
A.A
B.B
C.C
D.D
E.E
F.F
G.G
Match the type of aphasia (numbered items)
with the associated clinical findings (lettered options in
Table 3.101-3.107Q), using each answer once. (-) indicates
abnormality, (+) indicates no abnormality, (+/-) indicates
abnormality may be present.
Conduction
A.A
B.B
C.C
D.D
E.E
F.F
G.G
A.A
B.B
C.C
D.D
E.E
F.F
G.G
Match the type of aphasia (numbered items)
with the associated clinical findings (lettered options in
Table 3.101-3.107Q), using each answer once. (-) indicates
abnormality, (+) indicates no abnormality, (+/-) indicates
abnormality may be present.
Transcortical motor
A.A
B.B
C.C
D.D
E.E
F.F
G.G
A.A
B.B
C.C
D.D
E.E
F.F
G.G
Match the type of aphasia (numbered items)
with the associated clinical findings (lettered options in
Table 3.101-3.107Q), using each answer once. (-) indicates
abnormality, (+) indicates no abnormality, (+/-) indicates
abnormality may be present.
Global
A.A
B.B
C.C
D.D
E.E
F.F
G.G
A.A
B.B
C.C
D.D
E.E
F.F
G.G
Match the type of aphasia (numbered items)
with the associated clinical findings (lettered options in
Table 3.101-3.107Q), using each answer once. (-) indicates
abnormality, (+) indicates no abnormality, (+/-) indicates
abnormality may be present.
Broca
A.A
B.B
C.C
D.D
E.E
F.F
G.G
A.A
B.B
C.C
D.D
E.E
F.F
G.G
Match the type of aphasia (numbered items)
with the associated clinical findings (lettered options in
Table 3.101-3.107Q), using each answer once. (-) indicates
abnormality, (+) indicates no abnormality, (+/-) indicates
abnormality may be present.
Transcortical sensory
A.A
B.B
C.C
D.D
E.E
F.F
G.G
A.A
B.B
C.C
D.D
E.E
F.F
G.G
Match the type of aphasia (numbered items)
with the associated clinical findings (lettered options in
Table 3.101-3.107Q), using each answer once. (-) indicates
abnormality, (+) indicates no abnormality, (+/-) indicates
abnormality may be present.
Wernicke
A.A
B.B
C.C
D.D
E.E
F.F
G.G
A.A
B.B
C.C
D.D
E.E
F.F
G.G
Match the disorder (leukodystrophy) with the
enzyme abnormality using each answer once, more than
once, or not at all.
Myelin proteolipid
A. Krabbe’s disease
B. Metachromatic leukodystrophy
C. Adrenoleulwdystrophy
D. Pelizaeus-Merzbacher disease
E. Alexander’s disease
F. Zellweger’s syndrome
G. None of the above
A
B
C
D
E
F
G
Match the disorder (leukodystrophy) with the
enzyme abnormality using each answer once, more than
once, or not at all.
Galactocerebrosidase
A. Krabbe’s disease
B. Metachromatic leukodystrophy
C. Adrenoleulwdystrophy
D. Pelizaeus-Merzbacher disease
E. Alexander’s disease
F. Zellweger’s syndrome
G. None of the above
A
B
C
D
E
F
G
Match the disorder (leukodystrophy) with the
enzyme abnormality using each answer once, more than
once, or not at all.
Aryl sulfatase A
A. Krabbe’s disease
B. Metachromatic leukodystrophy
C. Adrenoleulwdystrophy
D. Pelizaeus-Merzbacher disease
E. Alexander’s disease
F. Zellweger’s syndrome
G. None of the above
A
B
C
D
E
F
G
Match the disorder (leukodystrophy) with the
enzyme abnormality using each answer once, more than
once, or not at all.
Arginase
A. Krabbe’s disease
B. Metachromatic leukodystrophy
C. Adrenoleulwdystrophy
D. Pelizaeus-Merzbacher disease
E. Alexander’s disease
F. Zellweger’s syndrome
G. None of the above
A
B
C
D
E
F
G
Match the disorder (leukodystrophy) with the
enzyme abnormality using each answer once, more than
once, or not at all.
Aspartoacylase
A. Krabbe’s disease
B. Metachromatic leukodystrophy
C. Adrenoleulwdystrophy
D. Pelizaeus-Merzbacher disease
E. Alexander’s disease
F. Zellweger’s syndrome
G. None of the above
A
B
C
D
E
F
G
Match the disorder (leukodystrophy) with the
enzyme abnormality using each answer once, more than
once, or not at all.
ATP-binding transporter
A. Krabbe’s disease
B. Metachromatic leukodystrophy
C. Adrenoleulwdystrophy
D. Pelizaeus-Merzbacher disease
E. Alexander’s disease
F. Zellweger’s syndrome
G. None of the above
A
B
C
D
E
F
G
Match the disorder (leukodystrophy) with the
enzyme abnormality using each answer once, more than
once, or not at all.
Long-chain fatty acid metabolism
A. Krabbe’s disease
B. Metachromatic leukodystrophy
C. Adrenoleulwdystrophy
D. Pelizaeus-Merzbacher disease
E. Alexander’s disease
F. Zellweger’s syndrome
G. None of the above
A
B
C
D
E
F
G
Match the disorder (leukodystrophy) with the
enzyme abnormality using each answer once, more than
once, or not at all.
Copper ATPase defiCiency
A. Krabbe’s disease
B. Metachromatic leukodystrophy
C. Adrenoleulwdystrophy
D. Pelizaeus-Merzbacher disease
E. Alexander’s disease
F. Zellweger’s syndrome
G. None of the above
A
B
C
D
E
F
G
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
Sphingomyelinase
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
a-galactosidase A
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
B~-glucocerebrosidase
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
B~-galactosidase
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
Hexosaminidase A absent; hexosaminidase B increased
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
Hexosaminidase A and B deficient
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
Acid ceramidase
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
Acid lipase
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
Match the disorder (sphingolipidosis) with the
associated enzyme abnormality, using each answer once,
more than once, or not at all
Palmitoylprotein thioesterase
A. ‘fay-Sachs disease (G~1 gangliosidosis)
B. Sand hoff’s disease
C. Fabry’s disease
D. Gaucher’s disease
E. Niemann-Pick disease
F. Wolman’s disease
G. Batten’s disease (neuronal ceroid Iipofuscinosis)
H. Cerebrotendinous xanthomatosis
I. G~IJ gangliosidosis
J. Farber’s disease
K. None of the above
A
B
C
D
E
F
G
H
I
J
K
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Miller-Dieker syndrome
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Down’s syndrome
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Cri du chat syndrome
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Patau syndrome
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Prader-Willi syndrome
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Edward’s syndrome
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Fragile X syndrome
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Turner syndrome
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
lvlatch the gene abnormality with the associated
syndrome, using each answer once, more than once, or not
at all.
Associated with Dandy-WallIeI’ syndrome in some cases
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Trisomy 9
E. Long arm deletion, chromosome 15
F. Short arm deletion, chromosome 4
G. Short ann deletion, chromosome 5
H. Short arm deletion, chromosome 17
I. Decrease in the number of sex chromosomes
J. None of the above
A
B
C
D
E
F
G
H
I
J
