Cerebrovascular disease
68-year-old woman with aching and stiffness in her shoulders and intermittent fever
1. The most likely diagnosis is: temporal arteritis
2. How would you confirm your diagnosis? temporal artery biopsy, ↑ ESR
tx: prednisone
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65-year-old housekeeper awakens from sleep unable to stand or walk
1. What is your diagnosis? stroke
2. Where is the lesion? right ACA
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65–year-old man with right hand weakness and word-finding difficulty – TIA
1. Where would you localize the brain lesion that caused this man’s symptoms?
What vascular territory? left MCA
2. What are the risk factors for stroke? smoking, DM, HTN, hypercholesterolemia,
family history
3. What studies would you suggest are appropriate in evaluating this individual’s
problem? CT, FLP, HbA1c, carotid doppler
4. How (or) would you treat this man’s presenting problem?
no b/c TIA – no permanent deficit
start statin, anti-platelet agent, CEA if >70% stenosis
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52-year-old woman with awakened from sleep at 2330 hours with the urge to urinate
1. B
2. D
3. C
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21-year-old man with Marfan’s syndrome with headache, fever and left-sided weakness
1. B
2. D
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65-year-old male who cannot move his right side
1. What happened? lacunar stroke
2. Where is the lesion? posterior limb of left internal capsule
3. Your diagnosis can be confirmed by…? MRI
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Cord/root disease
55-year-old male with a 3-week history of back pain radiating into the right leg – S1
radiculopathy
1. What muscles would you expect to be weak? gluteus maximus, gastrocnemius,
soleus, peroneus muscles
2. What deep tendon reflexes would you expect to find diminished or absent? ankle
(Achilles)
3. The 5th lumbar nerve root exits between what vertebrae? L5-S1
4. What are the indications for a lumbar discectomy? cauda equina syndrome,
clinical (EMG) or progressive motor weakness, spinal cord compression signs,
S2-4 disturbances, or incapacitation after 4 weeks of conservative tx
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36-year-old construction worker complains of neck pain radiating into the left arm
1. What muscles comprise the C-7 myotome? triceps, wrist extensors & flexors,
pectoralis major
2. Where is the C-7 dermatome? 2nd & 3rd fingers
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Dementia
40-year-old man with AIDS
1. List causes of dementia:
A. degenerative – Alzheimer’s, Huntington’s, Parkinson’s, Lewy body dementia,
Pick’s disease (FTD), progressive supranuclear palsy, spinocerebellar
degeneration, ALS with dementia, olivopontocerebellar atrophy, FTD-17
B. Metabolic – Wilson’s disease, hypothyroidism, B12 deficiency, hypercalcemia,
Addison’s disease
C. Lipid storage diseases and leukodystrophies
D. Toxic – drug intoxication, alcohol, arsenic, lead, mercury
E. Infectious – CJD, AIDS, syphilis, SSPE (post-measles)
F. Neoplastic and paraneoplastic
G. Vascular – vascular dementia (multi-infarct), vasculitis
H. Hydrocephalus (NPH)
I. Trauma – severe head injury, boxer’s encephalopathy (punch drunk), chronic
subdural hematoma
J. Depressive pseudodementia
2. How do you distinguish one type of dementia versus another on clinical and
radiologic grounds?
 clinical: mini-mental status exam, neuropsych testing, physical exam
 radiology: MRI (Alzheimer’s), CT (CV dz), PET (brain metabolism)
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78 year-old woman
1. Where would you localize a lesion that leads to:
a. Paraphasic errors? Temporal gyrus
b. Problems with short-term memory? hippocampus
c. Difficulty constructing simple figures? Non-dominant parietal lobe
2. What are the 3 most common causes of dementia in the US?
Alzheimer’s, multi-infarct/vascular, Parkinson’s
3. What is the difference between a cortical and a subcortical dementia?
A. Cortical dementia characteristics
I. Aphasia and dysnomia is present early on
II. Apraxia
III. Encoding or storage memory deficits
IV. Mental speed in normal until late
B. Subcortical dementia characteristics
I. Dysfluency – stuttering and difficulty in word-finding
II. Working memory deficits and memory retrieval problems
III. Inattention
IV. Slowed mental speed
V. Activities of daily living are relatively intact
4. One should screen for what treatable diseases in a person who presents with
signs/symptoms of dementia?
Screening: electrolytes, BUN, creatinine, glucose, calcium, liver enzymes, CBC
with differential, ESR, B12, folate, TSH, FTA or MHA-TP (syphilis), urinalysis,
head CT/MRI
5. What is the recommended therapy for Alzheimer’s disease? What is the
prognosis?
 Cholinesterase inhibitors (tacrine, donepezil, rivastigmine, galantamine) –
“sets back clock” 6 months
 Memantine – NMDA antagonist
 Antioxidants (vitamin E, selegiline)
 ± gingko
Standard tx: cholinesterase inhibitor (± vitamin E), eventual addition of
memantine, and symptomatic treatment (antipsychotics/antiepileptics for
agitation, antidepressants, antibiotics when necessary)
Prognosis: average survival after onset of symptoms: 8-10 years, death usually
results from infection (aspiration pneumonia or urosepsis)
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Neuropsych case 1
1. Testing is more suggestive of a subcortical process with evidence of dysfluency,
working memory deficits, memory retrieval problems, bradyphrenia, and
attentional compromise. A more cortical process would be indicated if the
patient’s test data was notable for aphasia, dysnomia, apraxia, or encoding or
storage memory deficits.
2. Testing is consistent with a mild dementing process such as Parkinson’s plus
syndrome or dementia with Lewy Body disease. Cognitive deficits supportive of
prominent cortical dysfunction such as possible Alzheimer’s disease are not
evident.
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Neuro psych case 2
1. a) No, the severity of the patient’s cognitive deficits cannot be attributed solely to
her lower educational attainment as she demonstrated impairment on tasks
generally not thought to be highly impacted by education such as constructional
and visuospatial tasks, simple attentional tasks and basic activities of daily living
skills. b) Yes, it appears that individuals with a lower education are at increased
risk for developing dementia in late life.
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52 year-old male
1. Diagnosis? Frontotemporal dementia
2. What are frontal lobe release signs? grasp, snout, root, and suck reflexes
3. What are the common causes of dementia? Alzheimer’s, vascular, DLB, FTD
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Demyelinating disease
28 year-old female develops sudden loss of vision in the left eye
This lady has which one of the following:
a. optic neuritis
b. papillitis
c. papilledema
d. increased intracranial pressure
e. retrobulbar neuritis
1. What is likely to be her underlying disease? MS
2. What might her CSF exam show?
Oligoclonal bands, elevated IgG index (CSF IgG to albumin / serum IgG to
albumin), possible mild monocytosis
3. What abnormalities might her MRI of the brain show?
Multiple white matter plaques found most often in paraventricular areas,
centrum semiovale, corpus callosum, and basal ganglia.
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26-year-old woman presents with bilateral lower extremity weakness and numbness
1. What is the difference in retrobulbar neuritis and optic neuritis?
retrobulbar neuritis is a type of optic neuritis in which the optic disc is not swollen
2. What are CSF findings in MS? as above
3. What is your diagnosis?
MS if symptoms repeat over time; this might be first attack; seems to have an
element of transverse myelitis, a common precursor of MS
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37 year-old with right arm tremor that worsened with movement
1. How well can you neurologically localize each of the highlighted symptoms?
right intention tremor – abnormal cerebellar outflow to thalamus
↓ visual acuity – right optic nerve
urinary retention – spinal cord [S2-S4 parasympathetics (detrusor muscle),
T10-T12 sympathetics (bladder neck [internal spinchter], trigone and distal
ureters), S2-S4 pudendal nerver (voluntary control of external spinchter
(urethra), or any lesion inferior to the pontine micturition center]
2. What is the most likely diagnosis for this woman? Why?
MS – multiple CNS lesions separated in time and space
3. What additional studies might be helpful at this time?
MRI, LP, evoked potential testing
4. Should this woman be treated?
Seems to be relapsing remitting MS, so treatment is appropriate
If so, what would you consider appropriate treatment? Why?
Acute tx of prednisone or methylprednisone and possibly plasma exchange or
IVIG if severe; long term treatment with either beta interferon 1-a, 2-a, or
glatiramer acetate (synthetic analog of myelin basic protein); other options
include natalizumab (antibody against T-cell adhesion molecule a-4 integrin)
and mitoxantrone
5. If I were to tell you this was a case of multiple sclerosis, what could you tell me
about underlying disease mechanism?
perivascular inflammation and destruction of myelin in CNS white matter –
likely autoimmune involvement of T cells with genetic and environmental
factors
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Epilepsy
16-year-old female with a history of simple partial seizures – carbamazepine overdose
(cross reactivity of carbamazepine on toxicology screen for TCAs causes false positive
results)
1. What are some diagnostic possibilities? anything that could cause altered mental
status in teenager (drugs, drugs, drugs!), seizure or post-ictal confusion
2. When mom arrives in the ER what additional information would you like to have?
medications, last seizure, trauma, substance abuse, sx of depression?
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8-year-old male with partial complex seizures
1. What are some diagnostic possibilities? drug interaction, ingestions, all the bad
stuff that causes mental status changes in an 8-year-old
2. What is the physiologic basis for your diagnosis? phenytoin ↑ valproic acid
metabolism (phenytoin is p450 inducer), thus ↓ level of valproic acid resulting in
seizure & ↑ level of metabolites causing side effects
(side note: carbamazepine is inducer of p450 as well: ↓ effectiveness of OCPs!
side note #2: valproic acid causes build up of active CBZ metabolites, prolonging its
effects)
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27-year-old woman in the second trimester of her first pregnancy
1. What type of seizure does she have? partial complex seizures with 2o
generalization
2. What drug would you use and why?
tx for partial seizures: carbamazepine, phenytoin, oxcarbazepine, valproic acid
avoid valproic acid in pregnancy due to teratogenicity (folate antagonist  neural
tube defects), phenytoin & carbamazepine are also class D
oxcarbazepine is class C, so presumably the best option for pregnancy
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26 y.o. woman in the second trimester of her first pregnancy
1. Does this woman have epilepsy? yes (recurrent seizures
Based on her symptoms, how would you classify it? partial complex seizures
2. How well can you localize the ictus, or does it begin as a generalized
phenomenon?
fear or anxiety usually is associated with seizures arising from the amygdala;
secondary generalization
3. What is the significance of complicated febrile seizures?
↑ likelihood of seizures later in life
4. What is the mechanism of action of carbamazepine in the treatment of epilepsy?
Carbamazepine stabilizes the inactivated state of sodium channels, meaning
that fewer of these channels are available to open, making brain cells less
excitable
Are there other anticonvulsants that share this mechanism?
oxcarbazepine, phenytoin, fosphenytoin, lamotrigine, valproate, topiramate,
zonisamide
5. How is the potential teratogenicity of anticonvulsants mitigated?
take folic acid to prevent neural tube defect
Should this woman’s anticonvulsant be changed at this time?
no point in changing meds now – by 2nd trimester, damage is already done
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9 year-old Meriem
1. What is the differential diagnosis? psychogenic spells, absence epilepsy
2. What is the most likely diagnosis?
complex partial epilepsy (temporal in origin – jamais vu)
3. What tests would be appropriate and what would they be expected to show?
EEG – epileptiform discharges from temporal lobe (50-70% sensitive
interictally)
4. How would you manage this child?
tx for partial seizures: carbamazepine (aggravates juvenile myoclonic epilepsy,
so make sure no hx of jerking in the morning), phenytoin (hirsutism, gingival
hyperplasia, cerebellar atrophy), oxcarbazepine, valproic acid (acute
hematological toxicities)
Of the options I’d probably go with oxcarbazepine because it seems to have the
fewest adverse effects.
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4 year-old Joe has had four spells
1. What is the differential diagnosis?
Myoclonic jerks (non-epileptic)
Juvenile myoclonic epilepsy
Benign child epilepsy with centrotemporal spikes (Rolandic epilepsy)
2. What is the most likely diagnosis?
Benign child epilepsy with centrotemporal spikes (Rolandic epilepsy)
3. What tests would be appropriate and what would they be expected to show?
EEG – centrotemporal spikes
4. How would you manage this child?
usually resolve spontaneously as teenager, but if you really want meds then
give: carbamazepine (Tegretol), lamotrigine (Lamictal) or sodium
valproate (Epilim)
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8 year old Allison
1. What is the differential diagnosis?
absence epilepsy
other complex partial sz
shuddering attacks
2. What is the most likely diagnosis? absence epilepsy
3. What tests would be appropriate and what would they be expected to show?
EEG – 3hz spike and wave
4. How would you manage this child?
Ethosuximide or Valproic Acid (Depakote); give Valproic Acid (Depakote) if a
kid has other types of seizures in combo with absence
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2 year old Bill
1. What is the differential diagnosis? seizures, breath holding spell
2. What is the most likely diagnosis? breath holding spell
3. What tests would be appropriate and what would they be expected to show?
EEG to rule out seizures, EKG/echo to rule out cardiac cause (expect to be
normal)
4. How would you manage this child? educate/reassure family, no other treatment
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3 year-old George
1. What is the differential diagnosis? nightmares, night terrors
2. What is the most likely diagnosis? night terrors
3. What tests would be appropriate and what would they be expected to show?
polysomnogram – arousal during deep non-REM sleep
4. How would you manage this child?
no meds unless hurting himself during sleep or very frequent events  then
give diazepam or imipramine
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5 year old Arman
1. What is the differential diagnosis?
Viral meningitis
Bacterial meningitis
Febrile seizures
2. What is the most likely diagnosis? herpes simplex encephalitis
3. What tests would be appropriate and what would they be expected to show?
LP  HSV PCR
MRI  abnl signal in temporal lobes
EEG  epileptiform discharges in frontotemporal regions
4. How would you manage this child? acyclovir 30mg/kg/day x 14 days
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Bob was well until the 1st grade when he developed a series of rapid eye-blinks
1. What is the differential diagnosis? Complex partial sz, Tourette’s
2. What is the most likely diagnosis? Tourette’s
3. What tests would be appropriate and what would they be expected to show?
EEG to r/o sz
if it’s a tic disorder, then no further w/u is needed beyond H&P
4. How would you manage this child?
Tics tend to get better over time
If moderate/severe, can treat with Haloperidol, Pimozide or Clonidine
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Headache
50-year-old woman with a history of migraine headache – subarachnoid hemorrhage
1. What test would confirm your diagnosis? LP  blood
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16 year-old female – pseudotumor cerebri
1. What would you include in your differential?
tumor, CSF outflow obstruction, trauma, hemorrhage, infection, arachnoid
adhesions, cavernous or dural sinus thrombosis
2. What is “pseudopapilledema”?
apparent optic disc swelling not 2o to ↑ ICP (drusyn bodies/
3. What diagnostic tests would you perform?
CT/MRI to rule out mass lesion
LP – ↑ opening pressure (> 250 mm H20)
4. What are some known causes of pseudotumor?
corticosteroids, tetracycline antibiotics, vitamin A or D excess
associated with obesity
5. If this patient’s opining pressure was 190 mm of H2O, what would the
diagnosis be?
6. Why is Diamox effective in treating pseudotumor cerebri?
acetazolamide – carbonic anhydrase inhibitor – ↓ CSF formation
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“Brenda” is a 32 year old second grade school teacher – migraine
1. What are the primary causes (not due to structural lesions, or metabolic
dysfunction) of headache in young women?
tension, migraine, chronic paroxysmal hemicrania
2. If you had one question to ask Brenda, to help differentiate this headache from an
“ordinary,” or mild headache, what would it be?
3. Brenda would like to avoid taking preventative medicines for headache. What can
you tell her about her diet that may minimize or avoid headache; i.e. what are
common headache triggers?
chocolate, cheese, alcohol (esp. red wine), MSG, pickled foods, processed
meats, menstrual periods, weather conditions, irregular eating or sleeping
habits, stress, OCPs (also ↑ risk for DVT, as does migraine, so if pt has
both, you better make sure she doesn’t smoke!)
4. Does the location of Brenda’s headache help you identify its cause?
no – migraines are usually unilateral
5. Brenda would like to become pregnant. What will happen to her headaches in
pregnancy, and which medications are safe for the fetus?
Migraines often subside during pregnancy. If not, try to use only abortive
treatment rather than prophylaxis. Tylenol is safest. Avoid NSAIDs in 3 rd
trimester to prevent premature ductus closure. If prophylaxis is
necessary, cyproheptadine is safest but not always effective. Metoprolol
is also considered fairly safe.
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“Charles” is 42 years old
1. Why should Charles not watch Super Bowl football commercials on TV?
lots of beer commercials  alcohol is a precipitant of cluster headaches
2. What type of primary headache does he characterize? cluster headache
3. What acute and preventative treatments are available for him?
acute (abortive): 100% O2, intranasal ergotamine, intranasal lidocaine, IV
dihydroergotamine, subQ sumatriptan
acute (to stop cluster): prednisone, verapamil, ergotamine, VPA, lithium,
methysergide, topiramate
preventative: lithium, verapamil
4. Where do the “rhythm” centers that control sleep/wake cycles and circadian
rhythms reside in the brain? pineal gland
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Inflammatory disease
40-year-old male had fever and headache for 3 days
1. Probable diagnosis?
herpes simplex encephalitis – prodrome of malaise, fever, headache,
sometimes behavioral changes; involves frontotemporal lobes 
hemiparesis, aphasia, visual field abnormalities; also florid behavioral
changes, amnesia, seizures, stupor, coma
2. What tests would confirm your diagnosis?
LP  HSV PCR (98% sensitive, ~100% specific)
also lymphocytic pleocytosis, mild protein elevation, normal or
modestly reduced glucose, ± RBCs
MRI  contrast enhancement & edema of temporal lobes
EEG  epileptiform discharges in frontotemporal regions
3. Discuss management.
acyclovir immediately (30 mg/kg/day x 14 days); do not wait for test results!
(70-80% mortality in untreated cases, 20-30% mortality in treated cases)
______________________________________________________________________
62 year old college professor
1. What is the likely diagnosis? HSE
2. What will you do next to confirm that diagnosis? as above
3. How will you treat this patient? as above
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35 year-old with headache, vomiting, and a temperature of 101○
I. For each of the following CSF findings give a probable diagnosis
(normal: protein <40; glucose 40-70; cells < 5)
1. protein 65; glucose 48; 75 WBC’s (75% lymphs) – viral or early bacterial
meningitis
2. protein 120; glucose 22; 1,220 WBC’s (90% polys) – bacterial meningitis
3. protein 155; glucose 35; 120 WBC’s (90% mononuclear cells) – TB or
fungal meningitis
4. protein 48; glucose 70; 65 WBC’s (90% lymphs) – viral meningitis
5. protein 75; glucose 68; 85 WBC’s, 850 RBC’s (90% lymphs) – HSE
6. protein 200; glucose 15; 65 “bizarre” mononuclear cells – carcinomatous
meningitis
II. What is the most common cause of non epidemic encephalitis? HSE
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Movement disorders
7-year-old male developed quick, jerky movements of both arms
1. What is your diagnosis? Sydenham’s chorea (neurological manifestation of
rheumatic fever)
2. What is the mechanism of action of dopamine?
Dopamine is found in three major pathways in the central nervous system. A
dopamine projection from the hypothalamus plays an important role in the
regulation of prolactin release from the pituitary gland. Dopamine also is
synthesized by neurons in the ventral tegmental area, which projects to the
prefrontal cortex and the basal forebrain, including the nucleus accumbens.
Another important dopamine pathway is from the substantia nigra pars
compacta to the neostriatum (reward pathways).
(from another source) There are four major dopamine pathways in the brain; the
nigrostriatal pathway, mediates movement and is the most conspicuously
affected in early Parkinson's disease. The other pathways are the
mesocortical, the mesolimbic, and the tuberoinfundibular. These pathways
are associated with, respectively: volition and emotional responsiveness;
desire, initiative, and reward; and sensory processes and maternal behavior.
Disruption of dopamine along the non-striatal pathways likely explains much
of the neuropsychiatric pathology associated with Parkinson's disease.
CV  increase CO and BP; renal vasodilation
3. What are the signs and symptoms of dopamine toxicity?
Nausea and vomiting, dizziness or fainting, sudden, unpredictable "attacks" of
sleepiness (these can be very dangerous if they occur while you are driving),
orthostatic hypotension, confusion or hallucinations, depression, insomnia,
jerky involuntary movements (dyskinesias) – these may fade once the
levodopa dosage is reduced, irregular heart rate and chest pain.
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7-year-old girl moody, spacey, fidgety, jerking movements – Sydenham’s chorea
1. What test would you perform to help confirm the diagnosis? streptolysin O titer
What else is would you include in the differential diagnosis? Fredrich’s ataxia,
ataxia-telangectasia
2. Do the movements require treatment? If so, how would you accomplish this?
usually resolves on its own; sedatives in severe cases
3. Is any other treatment required? What about long-term treatment?
aspiritn or steroids to treat rheumatic fever (reduces all manifestations except
chorea)
long-term prophylactic antibiotics to prevent recurrence of rheumatic fever
4. If untreated, what is the most significant long-term complication?
heart complications
Sydenham's chorea (also known as "Saint Vitus Dance") is a disease characterized by
rapid, uncoordinated jerking movements affecting primarily the face, feet and hands. SC
results from childhood infection with Group A beta-hemolytic Streptococci and is
reported to occur in 20-30% of patients with rheumatic fever (RF). The disease is
usually latent, occurring up to 6 months after the acute infection, but occasionally be the
presenting symptom of RF. SC is more common in females than males and most
patients are children, below 18 years of age. Adult onset of SC is comparatively rare
and most of the adult cases are associated with exacerbation of chorea following
childhood SC.
SC is characterised by the acute onset (sometimes a few hours) of motor symptoms,
classically chorea, usually affecting all limbs. Other motor symptoms include facial
grimacing, hypotonia, loss of fine motor control and a gait disturbance. Also emotional
instability. Fifty percent of patients with acute SC spontaneously recover after 2 to 6
months whilst mild or moderate chorea or other motor symptoms can persist for up to
and over 2 years in some cases. Sydenham's is also associated with psychiatric
symptoms with obsessive compulsive disorder being the most frequent manifestation.
Movements cease during sleep, and the disease usually resolves after several months.
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13-year-old female with a one-week history of quick, random jerks of her left shoulder
1. The child most likely has? Tourette’s
2. Name 3 movement disorders seen in children: Tourette’s, Sydenham’s chorea,
Fredrich’s ataxia, spinocerebellar ataxia, Wilson’s disease, CP
3. What movement disorders begin in childhood? see #2
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65-year-old retired lawyer was brought in by his wife because of “shaking” – Parkinson’s
1. An appropriate differential diagnosis of this case would include: idiopathic PD,
drug-induced Parkinsonism, multiple lacunar strokes, essential tremor, NPH,
depression, post-traumatic parkinsonism, progressive supranuclear palsy, HD,
multi-system atrophy
2. What are the basal ganglia? striatum, internal and external globus pallidus,
subthalamic nucleus, substantia nigra
3. What is the striatum? caudate, putamen, nucleus accumbens
4. What is the lenticular nucleus? globus pallidus & putamen
______________________________________________________________________
70-year-old retired rehabilitation professor with a right hand tremor – Parkinson’s
1. Can you anatomically and pharmacologically localize this man’s lesion?
The symptoms of Parkinson's disease result from the loss of pigmented
dopamine-secreting (dopaminergic) cells, secreted by the same cells, in the
pars compacta region of the substantia nigra. These neurons project to the
striatum and their loss leads to alterations in the activity of the neural circuits
within the basal ganglia that regulate movement, in essence an inhibition of
the direct pathway and excitation of the indirect pathway.
2. What is the most likely diagnosis? Parkinson’s disease
What should be considered in the differential? see above case
3. What medications can typically cause symptoms such as this man has?
Drugs that block dopamine receptors, Antipsychotics (typical more commonly
than atypical), amiodarone, sodium valproate, lithium, CCBs,
metoclopramide, prochlorperazine, methyldopa, MPTP, Cinnarizine,
tranylcypromine, some SSRIs and acetylcholinesterase inhibitors
4. What is the biochemical deficit that causes the majority of this man’s symptoms?
↓ DA
How would you treat this man’s symptoms?
Dopamine replacement: L-dopa (which crosses BBB and is converted to
dopamine by dopa decarboxylase) and carbidopa (which blocks peripheral
dopa decarboxylase peripherally); dopamine receptor agonists sucha s
bromocriptine, pergolide, pramipexole, and ropinirole; MAOI such as
selegiline can postpone need for replacement therapy; COMT inhibitors
such as entacapone and tolcapone prevent L-dopa peripheral breakdown;
amantadine
What can you tell him about the prognosis?
Progressive disease; dopamine replacement made dramatic difference in
patients’ quality of life; effect on life expectancy is controversial; symptoms
progress even with optimal therapy and some become severely disabled;
most commonly: fluctuations between on times when mobility is good and
off times when mobility is poor, response to dopamine becomes briefer
and less reliable; fall more; dysarthria and dysphagia; slowed gastric
emptying and reduced intestinal motility causing anorexia and weight loss;
several surgical options for severely affected medicine therapy refractory
patients—pallidotomy, thalamotomy, stimulating electrode implant in
thalamus, globus pallidus, or substantia nigra
______________________________________________________________________
Neuromuscular disease
30 year-old female not feeling well for 6 months
1. Your diagnosis?
Polymyositis – symmetric, proximal muscle wasting & weakness; gradual
progression over months; ± muscle pain; cell mediated autoimmune disorder
(distinguish from dermatomyositis: also symmetric, proximal muscle
weakness; rash – eyelids, knuckles, face, neck; humoral mediated; 10-20%
associated with underlying malignancy)
2. What blood test will support your diagnosis? ↑ CK, sed rate, ANA
3. What will her EMG show (needle electromyography)?
Myopathic potentials characterized by short-duration, low-amplitude polyphasic
units on voluntary activation and increased spontaneous activity with
fibrillations, complex and repetitive discharges, and positive and sharp waves,
along with early recruitment
4. How would you treat this lady? prednisone (same for dermatomyositis)
73 year old man - polymyositis
1. What laboratory tests will directly aid in the diagnosis of his condition?
a. CK ↑ (not specific)
b. ANA ↑ (not specific)
c. EMG/NCS – spontaneous fibrillations, ↓ amplitude
d. Muscle Biopsy – definitive diagnostic test, inflammatory infiltrate, necrosis (vs.
dermatomyositis – perifasicular atrophy, perivascular infiltrates)
2. Discuss the expected findings for each of these tests. see above
3. What portion of the general physical exam is particularly important for his
diagnosis?
a. Skin for extensor surface and periungual rash – again, distinguish from
dermatomyositis
4. What criteria are used in the diagnosis of his condition – proximal muscle
weakness; subacute onset, no rash, etc; again, only definitive dx is muscle bx
5. List potential appropriate initial treatment options
Prednisone – first line tx
Methotrexate/azithioprine – reserved for pts with refractory dz
IVIg – only beneficial in dermatomyositis
60 year-old overweight female with numbness/tingling – diabetic peripheral neuropathy
1. What readily available laboratory test will confirm your diagnosis?
HbA1c
2. What other abnormalities on neurologic examination does this lady have?
+ Rhomberg  posterior columns  position sense/vibratory sense deficits
13-year-old girl with difficulty rising
1. Compare and contrast the signs and symptoms of muscle versus peripheral nerve
disease. Peripheral nerve dz usually involves motor, sensory & autonomic.
2. What is your diagnosis? limb girdle muscular dystrophy
55-year-old man with left face pain
1. Discuss your diagnosis.
trigeminal neuralgia (tic douloureux – French for painful tic)
2. Why would Tegretol help this man?
stabilizes inactivated Na channels  Na influx blocked  prevent depolarization
60-year-old male with weakness – Lambert-Eaton syndrome
1. What is the difference in botulism and the Lambert-Eaton syndrome at the
neuromuscular junction?
--Lambert-Eaton is caused by Abs against presynaptic voltage-gated Ca channel
(usually associated with small cell lung Ca)
--Botulinum toxin is a protease that attacks a fusion protein at the NMJ
preventing binding of the vesicles to the membrane, thus preventing release
of ACh.
2. What is a paraneoplastic syndrome?
--disease or symptom due to a cancer in the body, not due to the local presence
of the cancer cells, rather mediated by hormones, cytokines or immune
response against the tumor
40-year-old female with numbness/tingling
1. What are the two most common causes of neuropathy in this country?
diabetes, EtOH
2. What causes muscle atrophy in neuropathy?
denervation (thus, not seen in UMN lesion)
65-year-old male with burning feet
1. Localize the site of lesion. peripheral nerves
2. Provide a differential diagnosis for this problem. diabetes
3. What is your evaluation and treatment plan? HbA1c, control DM
15-year-old female with tingling in legs
1. The most likely diagnosis is? Guillain-Barré syndrome
2. How would you confirm this diagnosis? albuminocytologic dissociation in CSF
(elevated protein with few or no cells); NCV – demyelinating neuropathy
7 year-old boy with falling – Guillain-Barré syndrome
Which of the following statements concerning this child could be true?
1. He has elevated CSF protein - yes
2. He had gastroenteritis 1 month ago - yes
3. He will develop significant muscle atrophy - no
4. He could develop respiratory failure - yes
Explain why patients with some forms of peripheral neuropathy have slow nerve
conduction velocity measurements. demyelination
40-year-old man with progressive weakness – Guillain-Barré syndrome
1. What, if any, is the significance of the previous gastroenteritis?
60-70% of cases of GBS are preceded by acute infection (respiratory or GI),
commonly Campulobactor jejuni, CMV, EBV
2. What, if any, is the significance of eating pizza and drinking beer?
I don’t know
3. While examining the patient, he complains of feeling “weaker”. Is there anything
in particular that you need to be worried about?
autonomic dysfunction – orthostatic hypotension, transient hypertension, cardiac
arrhythmias; also respiratory muscle paralysis
4. What do expect to find on Neurological exam?
ascending areflexic motor paralysis ± sensory disturbances
5. The patient is admitted to the Neurology Service. What test(s) do you want to
perform to confirm your clinical suspicions? What do you expect them to reveal?
LP – elevated protein in CSF
NCV – demyelinating neuropathy
6. You make the diagnosis. How would you treat the patient?
hospitalization
frequent monitoring of FVC & negative inspiratory pressure (FVC < 15 ml/kg 
ICU/intubation)
IVIg or plasmapheresis (NOT steroids)
48-year old man with double vision, mild arm weakness and rapid fatigability
1. Where would you localize a lesion that leads to fatigable weakness?
NMJ
2. What electrophysiologic tests are useful in making the diagnosis of this patient’s
illness?
single fiber EMG (most sensitive) – increased jitter (temporal variability in firing
patterns of two muscle fibers belonging to the same motor unit)
3. What laboratory test, if positive, allows for a definitive diagnosis?
elevated titers of anti-nAChr Abs
4. Describe the pathophysiology of this autoimmune disease.
Abs against postsynaptic nicotinic ACh receptor block ACh binding and lead to
complement mediated attack and internalization of receptors.
5. What are current recommended symptomatic and therapeutic treatments.
Acetylcholinesterase inhibitors (pyridostigmine) – prolong availability of ACh at
postsynaptic membrane; used in edrophonium test for MG
Immunomodulation (prednisone, azithioprine)
IVIg or plasmapheresis
may be associated with thymoma – thymectomy
30-year-old male with easy fatigability and generalized weakness – myasthenia gravis
1. What serologic studies are potentially abnormal in myasthenia gravis?
Abs against nAChr, Abs against MUSK (muscle specific kinase)
2. What are the “classic” electrodiagnostic findings in myasthenia?
single fiber EMG (most sensitive) – increased jitter (temporal variability in firing
patterns of two muscle fibers belonging to the same motor unit)
3. What is your differential diagnosis in this case?
other neuromuscular junction disorders (Lambert-Eaton syndrome, botulism,
acquired neuromyotonia, congenital myasthenia, drug induced myasthenia
gravis, etc), metabolic and toxic myopathies, and brain stem diseases (for
example, ischaemic, inflammatory, and neoplastic) if myasthenia is restricted to
bulbar involvement
32 year old woman with weakness and fatigue
Myasthenia gravis
35 year-old female with horizontal diplopia and mild ptosis – myasthenia gravis
1. What would you do next?
work up for MG: anti-nAChr, EMG, chest CT
2. How does botulinum toxin cause paralysis?
Botulinum toxin is a protease that attacks a fusion protein at the NMJ preventing
binding of the vesicles to the membrane, thus preventing release of ACh.
3. How does cobra venom cause paralysis?
binds to ACh receptor preventing binding of ACh
62 year-old male with muscle cramps.
1. Diagnosis?
ALS
2. What is McArdle’s disease?
myophosphorylase deficiency
3. Who was the “Iron Horse”?
Lou Gehrig (for his durability - Over a 15 year span between 1925 and 1939, he
played in 2,130 consecutive games)
4. What is a fasciculation?
firing of a single anterior horn cell  recruitment of many muscle fibers produces
a contraction visible to the naked eye
5. What is a fibrillation?
firing of a single muscle fiber  only detectable on EMG
38-year-old female with 5 days history of double vision
1. Given the finding on the neurological examination, localize the potential sites of
the lesion.
Right CN VI  lateral rectus (worsening diplopia when looking right)
bilateral CN III  whatever muscles keep eyes open
2. What is the differential diagnosis for this patient?
myasthenia gravis
3. What is your evaluation and treatment plan?
same as all the other myasthenia patients
43-year-old gentleman with increased ALT and AST
1. Where would you localize the neurological lesion?
muscles
2. Does this affect your differential diagnosis?
1o muscle diseases (not neurological)
3. What is your differential diagnosis?
McArdle’s Disease
47 year old woman with a mild dull ache behind her right ear
1. What is the most likely diagnosis?
Bell’s palsy
2. What diagnostic studies, if any, are warranted?
if complete facial paralysis is still present after one week of medical treatment,
electroneurography should be performed
3. How would you treat this lady?
usually resolves within 3 month
eye drops for affected eye (↓ lacrimation)
prednisone ± acyclovir