Name the dz
Mutations
Peds
Medication
Preclinical
100
Lady kept getting her hands burnt while cooking (she doesn't feel it) she also has had lower extremity weakness for 10 years, possible dx?
syringomyelia
100
Patient w NF1 has headache and hemiparesis,
later gets angiogram - whats most likely abnormality?
Moyamoya dz
100
6month old baby was initially able to sit.
Treatment?
Nusinersen for SMA (spinal muscular atrophy)
100
Pregnant lady had epidural, develops headache that improves with lying down
Intracranial hypotension caused by csf leak
they also had second question what to do:
Lie down 6hrs
100
Hyperpolarization of action potential is mostly due to:
opening of K channel
200
He sleeps at 3am and sleeping in morning. When tries to go to sleep at 9pm cannot fall asleep. dx?
Delayed phase sleep disorder
200
GAA trinucleotide repeat in a patient with unsteady gait
friedreich ataxia, AR frataxin gene
200
Posterior WM disease with elevated VLCFA
X linked adrenoleukodystrophy
200
Patient has acute aphasia and right sided weakness, LKW 4 hrs prior. SBP 200, CTH shows no acute changes. CTA/CTP is pending.
Next step?
No need to wait for angio for TPA. treat the BP first <185 then give tpa.
if occlusion, get NIR
200
Video showing a lady who has gaze issues
cannot look medial with either eye, eyes are with lateral gaze b/l.
where is the lesion?
WEBINO
b/l medial rectus nucleus
300
Guy first has a pain in his right arm, then slowly progressed to have weakness in the right arm in ~12hrs. dx?
parsonage turner (brachial plexitis)
300
ALS familial gene?
C9ORF72
300
Kid with subacute encephalopathy and weakness (cannot walk),
found to have T2 signal changes on MRI brain (subcortical hyperintensity) and spinal cord T2 lesion from T1-T8
dx?tx? prognosis?
ADEM
tx IV solumedrol
prognosis monophasic
300
Drug to stop hyperprolactinemia?
cabergoline (dopamine agonist)
300
hint: type of tumor, found on base of skull
i was shown tumor invading base of skull with pic showing purple, phalisaliphorous cells with myxoid background.
MC location clivus
(can look like myoepithelial carcinoma too but cuz of location)
400
Having ear fullness, vertigo, and hearing loss.
which test?
dx?
tx?
get audiogram, likely menieres, tx w diuretics
400
College kid gets a headache then multiple seizures without return to baseline. He also seen to have fever and petechial rashes on exam.
next step?
next step was give ativan and intubate
also had another next step to give ceftriaxone for meningococcal infxn before his LP results
400
Girl ~3yo has met all milestones at some point but then starts getting delayed, weird hand mvts
Dx?mutation?
Rett syndrome
MECP2 mutation
400
70f w pmhx afib on pradaxa, htn, came in with headache and now giant ICH on Rt thalamus, exam with GCS14 left side weakness.
next step?
idarucizumab (praxibind) to reverse
400
Prion protein is different from regular protein because of:
they have more Beta sheets
500
70yo guy kicking and yelling at nighttime when he sleeps, wife tells me he has been confused at times and seeing flowers at home that are not there.
lewy body dementia
500
Young baby ~1yo w febrile seizure, there's family history of seizures. SCN1A mutation came back on genetic testing. dx?
dravet syndrome
500
Kid with intellectual disability was brought in by his grandfather, who you noticed to have a cerebellar tremor.
gene involved, what's the abnormality?
FMR1 gene (fragile x)
symptom usually worse in younger generation due to anticipation
500
guy with labile blood pressure, has tingling and numbness in extremities, Echo w thicken of myocardium everywhere. dx and tx?
hereditary transthyretin amyloidosis
treat w patisaran
500
Ramsey hunt syndrome is VZV infection in:
Geniculate ganglion