_____ is caused by mutation in p53 tumor suppressor gene
Li-Fraumeni syndrome
Patient presents to you following a seizure. You note a port wine
nevus on the left side of her face, covering her eye and forehead.
Dx?
Sturge-Weber
People with ____ are more likely to have glaucoma, seizures,
and stroke.
Sturge Weber
Patient is experiencing shooting pain in her right upper
extremity when she turns her neck. MRI shows a bulging disc at
the C6 level. Dx?
radiculopathy
Patient presents with shooting pain down the left lower
extremity. She is diagnosed with herniated disk and has tried
PT/OT, TENS, and stretching. She is not a candidate for
surgery. Tx?
,Gabapentin
Autoimmune insult to myelin (demyelinating) of peripheral
nerves and nerve roots
Guillain Barre
44 yo patient presents to the ER with bilateral lower extremity
weakness. They say it has gradually worsened over the past 12
hours. They were diagnosed with COVID-19 just 7 days ago.
Tx?
IVIG and plasmapheresis
Patient presents with bilateral lower extremity weakness and
difficulty breathing. CSF reveals albuminocytological
dissociation. EMG/NCS is pending. Patient says they were
running a fever 6 days ago. Dx?
Guillain-Barre Syndrome
AIDP and CIDP are aka
Guillain Barre
Ataxia + Areflexia + Ophthalmoplegia
Descending weakness
,GQ1b antibodies
Miller Fisher Variant AIDP
Lidocaine
Capsaicin
Gabapentin, Pregabalin
Amitriptyline, Nortriptyline
SNRIs: Duloxetine
are all used to treat
neuropathy
which is not true about neuropathy
it can begin at the arms and move downward
Patient presents with numbness and tingling in their thumb, 2nd
digit, and 3rd digit that worsens with driving. She says it
sometimes gets better if she shakes it out. Dx?
carpal tunnel syndrome
Patient presents with unilateral facial drooping. They are unable
to raise their eyebrows and smile on the affected side. Their
forehead appears to be involved. Tx?
steroids and acyclovir
, eye closes with smiling (slightly different nerve distribution
forms when nerve regrows back)
synkinesis following Bell's palsy
Bell's phenomenon describes
eyes rolling upward when trying to close the eyes
Patient presents with unilateral facial paralysis following
influenza infection. You tell them that this paralysis is caused by
inflammatory insult to CN VII
highest mortality in kids of neural d/o
congenital malformations
Upon exam of a new 14 yo patient, you notice a dimple in the
lower back and they tell you they were diagnosed with a neural
tube defect as a baby. Dx?
spina bifida occulta
Upon exam of a newborn you see a herniation at about the L2-
L3 level that appears to be fluid filled. Dx?
meningocele