Neurology: Step 2

Question 1

What are the symptoms associated with Parkinson Disease?

Answer 1

Tetrad: Resting tremor, bradykinesia, rigidity, and postural instability (asymmetrical)

Other: masked facies, memory loss, and micrographia

Question 2

What are the possible etiologies of Parkinsonism (bradykinesia and rigidity)?

Answer 2

Vascular (multiple infarcts), NPH, Metabolic, Toxins, Infection, Drugs (Reserpine/tetrabenazine, metoclopramide/prochloperazine, atypical antipsychotics)

Question 3

If a suspected Parkinson patient fails to respond to Levodopa, what diagnoses are more likely?

Answer 3

1. Multiple system atrophy: Often has autonomic or cerebellar component; MRI for diagnosis
2. Progressive supranuclear palsy: Inability to look down (can’t go down stairs)
3. Corticobasal ganglionic degeneration: Often has component of limb apraxia or dystonia

Question 4

What are the treatment options for Parkinson disease?

Answer 4

1. Carbidopa/levodopa (DA mimetic)
2. Ropinirole/Pramipexole/Bromocriptine (DA agonists)
3. Selegiline (MAO-B inhibitor)
4. Entacapone/tolcapone (COMT inhibitors)
5. Amantadine (NMDA antagonist)

Question 5

What are the non-pharmacologic treatment options for Parkinson disease?

Answer 5

1. DBS (deep brain stimulation)

2. Surgical pallidotomy

Question 6

What is the pathophysiology of Huntington Disease?

Answer 6

1. A hyperkinetic, autosomal dominant trinucleotide repeat (CAG) repeat disease involving the HD gene on chromosome 4 and showing “anticipation”

Question 7

What are the symptoms associated with Huntington Disease?

Answer 7

Triad: Chorea (sudden onset of purposeless, involuntary, dance-like movements), Altered behavior, and Dementia (antisocial, irritability, clumsiness, etc)

Question 8

What is a reasonable differential diagnosis for choreiform movements?

Answer 8

1. Hereditary (HD, Spinocerebellar ataxia, pseudohypoparathyroidism)
2. Autoimmune (vasculitus, SLE)
3. Neoplasm (tumor, paraneoplastic syndrome)
4. Metabolic (hyperthyroidism, etc)
5. Toxins/drugs

Question 9

What is the gold standard for diagnosis of Huntington Disease?

Answer 9

1. DNA analysis for number of CAG repeats (>29 is abnormal)

2. CT/MRI shows caudate atrophy and ex vacuo hydrocephalus (Not Gold Standard)

Question 10

What are the treatment options available for patients with Huntington Disease?

Answer 10

1. Chorea with Reserpine/tetrabenazine
2. Psychosis with atypical antipsychotics
3. Depression/anxiety with SSRI
4. Provide genetic counseling
   All symptomatic relief!

Question 11

What is the pathophysiology of Spinocerebellar ataxia? Diagnostic evaluation? Treatment?

Answer 11

1. AD inheritance of cerebellar atrophy that leads to progressive ataxia/gait disturbances as well as various other neurological features
2. Diagnosis is made by DNA analysis
3. Treatment is supportive

Question 12

What is the pathophysiology of primary dystonia? Diagnostic evaluation? Treatment?

Answer 12

1. AD deletion of torsin A gene that leads to sustained muscle contractions, twisting movements, and abnormal postures; The disorder is aggravated by DA antagonists (Like PD)
2. Clinical (i.e. no signs of secondary etiology)
3. DBS of GPi ( best) or trihexyphenidyl

Question 13

What is the pathophysiology of Parkinson Disease? When does Parkinson Disease classically present?

Answer 13

1. Hypo kinetic disorder caused by loss of dopaminergic neurons in the Substantia Nigra; It is characterized by the presence of eosinophilic cytoplasmic inclusion bodies (Lewy)
2. The 5th and 6th decades of life

Question 14

What is the pathophysiology of Essential tremor? Diagnostic evaluation? Treatment?

Answer 14

1. AD inheritance of BILATERAL hand tremor with movement and fine motor skill tasks that spreads to the legs, larynx, and HEAD
2. Rule out other etiologies; PET scan shows increased thalamic uptake
3. Primidone and Beta-blockers for symptom relief OR Botox injections OR DBS

Question 15

What is a reasonable DDx for tremor?

Answer 15

1. Physiologic
2. Essential
3. Parkinson Disease
4. Hyperthyroidism
5. Multiple sclerosis
6. Head trauma (cerebellum or red nucleus)

Question 16

What is a reasonable differential diagnosis for seizure?

Answer 16

VITAMINS (Vascular, Infectious, Trauma, Autoimmune, Metabolic, Idiopathic, Neoplasm, pSychiatric); Eclampsia, liver failure (ammonemia), renal failure (uremia)

Question 17

What are the “red flags” for secondary etiologies of seizures?

Answer 17

1. Age of onset (Infant or Adult)

2. Focal neurological deficit(s)

Question 18

What is the difference between partial and generalized seizures?

Answer 18

Partial: involves a focus on 1 hemisphere, with no associated loss of consciousness
Generalized: involves both hemispheres and results in loss of consciousness

Question 19

What is the difference between simple partial and complex partial seizures?

Answer 19

Simple: no altered/impaired consciousness with motor, sensory, or autonomic features; postictal neurological deficits (resolve in 24 hours)
Complex: altered/impaired consciousness with automatisms, hallucinations, and Déjà vu; postictal confusion is common

Question 20

What are the diagnostic evaluations available for seizures?

Answer 20

1. EEG
2. MRI (If focal signs are present, r/o lesion)
3. Blood screening for secondary etiologies

Question 21

What are the various types of generalized seizures?

Answer 21

1. Tonic-clonic (grand mal): tonic contraction, followed by rhythmic muscle contractions
2. Myoclonic
3. Atonic (drop)
4. Tonic
5. Clonic

Question 22

What are the EEG findings associated with partial, generalized, and absence seizures?

Answer 22

1. Partial: epileptogenic focus with spread
2. Generalized: 10 Hz activity followed by slow waves
3. Absence: 3 per second spike and wave discharges

Question 23

What are the preferred treatment options for partial seizures? Children?

Answer 23

Phenytoin, Carbamazepine, Valproate, and phenobarbital (1st line in children)

Question 24

What are the preferred treatment options for primary generalized seizures? Absence?

Answer 24

Absence: Ethosuximide or Valproate
Primary generalized: Phenytoin and Valproate
With Topiramate or Lamotrigine as adjuncts
Secondary generalized: same as partial

Question 25

What is the definition of status epilepticus? Evaluation? Treatment?

Answer 25

>10 minutes of constant or repetitive seizures without a return to baseline consciousness; CT head to r/o hemorrhage then tailored to find likely etiology; ABCs, IV benzodiazepines plus loading dose of fosphenytoin, naloxone, thiamine+glucose, and Phenobarbital if symptoms do not improve

Question 26

A male infant presents with generalized seizure and has a positive family history. Which disorder is most likely? How is the diagnosis confirmed? Sequelae? Treatment?

Answer 26

1. West syndrome (infantile spasms) 2. Hypsarrhythmia on EEG 3. Mental retardation and arrested cognitive development 4. Hormonal therapy: ACTH, prednisone, and valproate or clonazepam (does not improve prognosis)

Question 27

Why is hypsarrhythmia?

Answer 27

High amplitude and irregular waves and spikes on a background of chaotic or disorganized activity

Question 28

A child presents with recurrent seizures despite the use of multi-drug therapy. What is the most likely etiology? Diagnosis? Sequelae? Treatment?

Answer 28

1. Lennox-Gastaut syndrome 2. Slow spike and wave appearance on EEG 3. Mental retardation and delayed psychomotor development 4. Resistant

Question 29

What is the difference between absence, atypical absence, and complex partial seizures?

Answer 29

1. Distinct beginning/end with absent awareness for 20 seconds Absence: children; Partial: adults