50:50
Welcome to
Who Wants to
be a Millionaire
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
Neurology
Board Review
November 2008
Brought to you by
Dr. Latour
© Mark E. Damon - All Rights Reserved
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
What finding is
suggestive of HA due to
increased ICP?
50:50
A: Relieved with NSAIDs
C: + Family history
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
B: Worse in AM
D: Band like pressure
© Mark E. Damon - All Rights Reserved
Increased ICP
• Headache
– Worse in morning, with sneezing, coughing or
straining
– Relieved with vomiting
– Progressive
– Frontal, temporal or occipital
© Mark E. Damon - All Rights Reserved
Symptoms of ICP
• Infant
–
–
–
–
–
–
–
–
–
Bulging or full fontanelle
Separation of sutures
Macrocephaly
Irritability, poor feeding
Vomiting
FTT
“Sunsetting” eyes
High pitched cry
Papilledema (rarely)
• Children
–
–
–
–
–
–
–
–
Headache
Vomiting
Visual disturbances
Papilledema
Double vision
“Sunsetting” eyes
Personality changes
Poor school performance
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
Which of the
following is a cause of
pseudotumor cerebri?
50:50
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A: Albuterol
B: Lasix
C: Minocycyline
D: Azithromycin
$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
Pseudotumor cerebri
•
•
•
•
•
AKA Idiopathic Intracranial Hypertension
Diagnosis of exclusion
Lumbar puncture with elevated opening pressure (> 20 cmH20)
Symptoms: headache, double vision, progressive papilledema
Associated with:
– Steroids
– Antibiotics
Vitamin A (Isotretinoin)
Lithium
• Tetracycline, Minocycline
– Obesity
– OCPs
Thyroxine
SLE
• MRI study of choice (r/o mass, hydrocephalus)
• Treatment: Acetazolamide
• Last resort: Optic N. fenestration
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
An infant with this
lesion may experience
what type of seizure?
50:50
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A: Infantile spasms
B: Absence
C: Benign Rolandic
D: Myoclonic
$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
Tuberous Sclerosis
• Autosomal dominant
• Presence of 2 or more:
– Ash leaf spots (seen w/ Woods light)
• *** may be present at birth
– Periventricular / Cortical tubers
– Adenoma sebaceum (present ages 2-10 yrs)
– Shagreen patch
– Sub / periungual fibroma (after adolescence)
– Cardiac rhabdomyoma
– Retinal nodular hamartomas
– Renal angiomyolipoma
• Definite association w/ infantile spasms
© Mark E. Damon - All Rights Reserved
Infantile Spasms
• Sudden flexion of head / trunk with flexion / adduction
of extremities
• Peak age 4 – 6 mos
• West Syndrome triad:
– Infantile spasms
– Hypsarrhythmia on EEG
– Mental retardation
• Spasms occur in clusters
• >est upon awakening or falling asleep
• Treatment: ACTH
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
What type of
hemorrhage is
depicted here?
50:50
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A: Intraventricular
B: Subdural
C: Subarachnoid
D: Epidural
$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
Head Bleeds
• Epidural hematoma
– Tear of epidural veins, middle meningeal A. (temporal bone
fracture)
– Convex lens
– Lucid interval
• Subdural hematoma
– Shearing of bridging veins
– “Shaken Baby Syndrome”
• Subarachnoid hematoma
– Concave shaped
– Acute onset, “Worse HA of life”
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
10 yo female with weakness
and bilateral ptosis that
worsens as the day progresses?
What test will help you make
the diagnosis?
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$1 Million
$500,000
$250,000
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A: CK
B: Tensilon test
C: Lumbar puncture
D: Muscle biopsy
© Mark E. Damon - All Rights Reserved
Myasthenia Gravis
• Autoimmune
– Ab against Ach receptors in NMJ
•
•
•
•
•
>er in females
Weakness worse with activity, improves with rest
+ Ocular involvement (ptosis)
Associated with thymoma
Confirmed w/ Tensilon test
– Edrophonium (short acting acetylcholinesterase inhibitor)
– Transient improvement
• Tx
– Pyridostigmine (long acting Achnesterase inhibitor)
– Curative—Thymectomy
© Mark E. Damon - All Rights Reserved
Other types of MG
• Congenital
– Autosomal recessive
– Defect of NMJ
– No circulating Ab
• Neonatal
– Transient
– Transplacental transfer of ACh Ab
– Weak cry, hypotonia, difficulty feeding, facial
weakness, respiratory compromise
– Resolves 6-12 wks
© Mark E. Damon - All Rights Reserved
the $1,000
Milestone!
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
5 yo male with difficulty
walking, running into objects.
3 wks prior dx with viral URI.
What is the most likely cause
of his ataxia?
50:50
A: Ataxia Telangiectasia
C: Just clumsy
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$1 Million
$500,000
$250,000
$125,000
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$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
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$200
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B: Acute Cerebellar Ataxia
D: Toxic Ingestion
© Mark E. Damon - All Rights Reserved
Acute Cerebellar Ataxia
• Peak onset 2 – 5 years
• Preceded by acute febrile illness (wks)
– #1 Varicella
– Other causes: Rubeola, Mumps, Rubella, EBV, Flu,
Mycoplasma, Coxsackievirus
• Resolves 6-8 weeks w/o specific therapy
• Steroids not indicated
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
What is the normal
head circumference at
birth for a full term
male?
50:50
A: 60 cm
B: 40 cm
C: 25 cm
D: 35 cm
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
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© Mark E. Damon - All Rights Reserved
Head Circumference
• 50th %tile for HC at birth is 35 cm
• Normal growth
– 1 cm/month for first 6 mos
– 0.5 cm/month from 6 mos – 12 mos
• Macrocephaly
– 2 std deviations above mean for age/ gender/ GA
– May be normal – measure parents HC
– Ultrasound
• Microcephaly
– 2 std deviations below mean age / gender/ GA
– CT or MRI
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
What disorder can be
associated with Tourette
Syndrome?
50:50
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$1 Million
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A: ADHD
B: OCD
C: Both A and B
D: None of the above
© Mark E. Damon - All Rights Reserved
Tourette Syndrome
•
•
•
•
•
•
Motor and vocal tics present > 1 yr
Peak age of onset 3 – 8 yrs
> er in males
Tics may be suppressed (school), increase with stress
Associated with ADHD and OCD
Tics unmasked with use of stimulant meds
– ***Meds do not cause tics, Do not stop meds!!!!
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
What type of
inheritance
pattern is seen in
the disorder
depicted in this
photo?
50:50
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
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A: X linked recessive
B: Autosomal dominant
C: Autosomal recessive
D: Multi-factorial
© Mark E. Damon - All Rights Reserved
Duchenne Muscular Dystrophy
• X linked recessive
•
•
•
•
•
Absence of dystropin
Poor head control may be first sign
Present 2 – 6 yrs: clumsy, “waddling” gait, toe walking
+ Gowers sign
Pseudohypertrophy of calves
• Fat deposition, collagen proliferation
• Associated cardiomyopathy and respiratory compromise
• Elevated CK
• Confirm: muscle biopsy or gene testing
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
This mass is
associated
with?
50:50
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$500,000
$250,000
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$500
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A: Excessive urination
B: Hyperkalemia
C: cold intolerance
D: All of the above
© Mark E. Damon - All Rights Reserved
Craniopharyngioma
• Most common supratentorial brain tumor
• Arises from Rathke pouch
• Symptoms
– Visual field defects
– Hypothyroidism: cold intolerance, wt. gain, constipation,
fatigue
– Adrenal failure: hypoglycemia, hyperkalemia, arrhythmias,
lethargy, N/V
– DI: excessive urination, dilute urine
– Growth retardation, delayed puberty
• Calcification in sella turcica
© Mark E. Damon - All Rights Reserved
the $32,000
Milestone!
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
7 yo female with abnormal
facial movements and an
inability to speak, worse at
night when sleeping? Dx?
50:50
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
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$500
$300
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$100
A: Absence
B: Benign Rolandic Sz
C: Myoclonic Seizures
D: Training to be a mime
© Mark E. Damon - All Rights Reserved
Benign Rolandic Seizures
•
•
•
•
•
•
•
•
AKA Benign Epilepsy of Childhood
Most common form of epilepsy
Ages 3 – 13 yrs
“Can’t talk” during episode
Abnormal facial movements
Occur when sleeping
+ FH
Self-limited, tend to “outgrow”
© Mark E. Damon - All Rights Reserved
Epilepsy syndromes of childhood
Idiopathic
Focal
Generalized
Benign Rolandic
Absence
Unclear cause
Familial
+/- Normal development
+/- Normal EEG
Easy to treat
Symptomatic
Identifiable cause
Abnormal exam
Abnormal EEG
Difficult to treat
Juvenile Myoclonic
Lesional
Infantile Spasms
Lennox-Gastaut
© Mark E. Damon - All Rights Reserved
Buzz words
• Treated with ACTH
– Infantile Spasms
• 3 / second spike and wave
– Absence
• Treat with ethosuximide
– Absence
• Associated with tuberous sclerosis
– Infantile Spasms
• Slow wave EEG
– Lennox-Gastaut Syndrome
• Life long AED requirement
– Juvenile Myoclonic
© Mark E. Damon - All Rights Reserved
And yet, more…
• “Spaced out”
– Absence
• Hysparrhythmia
– Infantile Spasms
• “Sudden loss of muscle tone”
– Juvenile Myoclonic
• Induced by hyperventilation
– Absence
• Early AM incoordination / jerking
– Juvenile Myoclonic
• Loss of consciousness and bladder control
– Generalized Tonic-Clonic
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
What is the
chance that a
parent with
this will
transmit to
his children??
50:50
A: 25%
B: 1%
C: 0%
D: 50%
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$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
NF1
• AKA von Recklinghausen Disease
• Autosomal dominant
– First degree relative
• Café au lait macules ( 6 or more)
– > 5 mm prepub,
– > 15 mm postpub
• Neurofibromas
• Increase with puberty and pregnancy
• Lisch nodules: dx with slit lamp exam
• Can develop pheochromocytoma and renal artery stenosis
– Monitor BP closely
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
Where is the defect in
Werdnig Hoffmann
Disease?
50:50
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A: Neuromuscular jxn
B: White matter of brain
C: Anterior horn cells
D: Peripheral nerves
© Mark E. Damon - All Rights Reserved
Werdnig Hoffmann Disease
• AKA Spinal Muscle Atrophy (SMA) type 1
• Autosomal recessive
• Degeneration of anterior horn cells
– Affects only motor function
– Spares sensory
• Buzz: “hypotonia”, “poor suck”, “ tongue
fasciculations”, “symmetric muscle weakness”
• Dx: muscle biopsy or gene testing
• Treatment supportive only
– Die by age of 2 (respiratory compromise)
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
10 yo female presents
with weakness and
areflexia following a
viral URI. What is most
concerning?
50:50
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
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A: Increased CSF protein
B: Leg pain
C: Elevated HR
D: Decreasing NIF
© Mark E. Damon - All Rights Reserved
Gullain Barre Syndrome
•
•
•
•
AKA Acute Inflammatory Demyelinating Polyneuropathy
Progressive ascending paralysis + Areflexia
Preceded by viral illness (esp. Campylobacter, EBV)
Albuminocytologic dissociation
• Increased protein to cell count
• “Difficulty rising from sitting position”, “cannot shrug
shoulders”
• Biggest risk : Respiratory Failure
– ***Monitor NIF (Negative Inspiratory Force) NOT Pulse Ox
• Decreasing NIF/vital capacity bad sign
– (> 20 ml/kg GOOD; < 15 ml/kg BAD)
• Treatment: Supportive, IVIG, plasmapheresis
© Mark E. Damon - All Rights Reserved
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
© Mark E. Damon - All Rights Reserved
This is seen
in what ???
50:50
A: Charcot Maria Tooth
C: Celiac Disease
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$1 Million
$500,000
$250,000
$125,000
$64,000
$32,000
$16,000
$8,000
$4,000
$2,000
$1,000
$500
$300
$200
$100
B: GBS
D: Smith Lemli Optiz
© Mark E. Damon - All Rights Reserved
Charcot Marie Tooth
•
•
•
•
Hereditary Sensorimotor Neuropathy
Autosomal Dominant
Present in 2nd decade
Buzz words:
– Hammer toes
– High arched foot
– Skinny legs (atrophy of LE)
– Claw hands
– Distal weakness
– Decreased DTRs
• Can progress to upper extremities
© Mark E. Damon - All Rights Reserved
YOU WIN $1
MILLION DOLLARS!
© Mark E. Damon - All Rights Reserved
Coming Soon!!!!
Board Review
December 9, 2008
PICTURE IT!!