(Updated Solution) USMLE Step 1 Rapid Review:
Guaranteed A+ Guide
sturge weber syndrome (encephalotrigeminal angiomatosis) - ANSWERcongenital
and non inherited
STURGE
sporadic/port wine stain
-tram track calcifications
-unilateral
-retardation
-glaucoma
-GNAQ gene
-epilepsy
tuberous sclerosis - ANSWERHAMARTOMAS
angiofibromas
-mitral regurg
-ash leaf spots
-cardiac Rhabdomyoma
-tuberous sclerosis
-auto dOminant
-mental
-renal Angiomyolipoma
-seizures
-shagreen patches
NF type 1 (von recklinghuasen) - ANSWERcafe au lait spots and freckling in axilla
lisch nodules in iris
-mutated NF1 tumor suppressor on chromosome 17
-neural crest derived
-bone tumors
von hippel lindau - ANSWERhemangioblastomas in retina and cerebellum causing
ataxia and HA
-angiomatosis
alzheimer disease altered proteins - ANSWERApo E2 decreases risk
Apo E4 increases risk (4>2)
APP, presenilin 1 and 2
findings in alzheimer (micro) - ANSWERdecreased Ach
Abeta amyloid from Amyloid precursor protein
-neurofibrillary tangles-tau protein
acute disseminated postinfectious encephalomyelitis - ANSWERinflamm and
demyelination after infection or vaccination
, -looks like MS but spots occur all at once
charcot marie tooth disease - ANSWERperipheral nerve disorders with defective
protein
-AD
-pes cavus, LEx weakness
krabbe disease - ANSWERAR lysosomal storage disease
metachromatic leukodystrophy - ANSWERlysosomal storage disease with
arylsulfatase A deficiency-->destruction of myelin sheath
-infant with motor delay that dies
progressive multifocal leukoencephalopathy - ANSWERdestruction of
oligodendrocytes causing demyelination
-in AIDs pts with JC virus reactivation
adrenoleukodystrophy - ANSWERx linked genetic disorder with disruption of long
chain fatty acids that build up in nervous, adrenal, and testes
glioblastoma* - ANSWERcrosses corpus callosum (butterfly)
-pseudopalisading pleomorphic tumor cells
-stained with GFAP
meningioma* - ANSWERdural tumor from arachnoid cells in falx cerebri
-whorled psammoma bodies
hemangioblastoma - ANSWERcerebellar tumor of BVs associated with von hippel
lindau syndrome
schwannoma - ANSWERat cerebellopontine angle CN 8
bilateral=NF2
-central vertigo presentation
oligodendroglioma - ANSWERfrontal lobe tumor with fried egg appearance and
chickenwire capillary pattern
-calcified
pituitary adenoma* - ANSWERprolactinoma that presents with bitemporal
hemianopia
-hyper/hypopituitarism
craniopharyngioma - ANSWERchildhood tumor of rathkes pouch
-confused with pit adenoma
-mixed hormone picture with calcification
-motor oil fluid appearance
Guaranteed A+ Guide
sturge weber syndrome (encephalotrigeminal angiomatosis) - ANSWERcongenital
and non inherited
STURGE
sporadic/port wine stain
-tram track calcifications
-unilateral
-retardation
-glaucoma
-GNAQ gene
-epilepsy
tuberous sclerosis - ANSWERHAMARTOMAS
angiofibromas
-mitral regurg
-ash leaf spots
-cardiac Rhabdomyoma
-tuberous sclerosis
-auto dOminant
-mental
-renal Angiomyolipoma
-seizures
-shagreen patches
NF type 1 (von recklinghuasen) - ANSWERcafe au lait spots and freckling in axilla
lisch nodules in iris
-mutated NF1 tumor suppressor on chromosome 17
-neural crest derived
-bone tumors
von hippel lindau - ANSWERhemangioblastomas in retina and cerebellum causing
ataxia and HA
-angiomatosis
alzheimer disease altered proteins - ANSWERApo E2 decreases risk
Apo E4 increases risk (4>2)
APP, presenilin 1 and 2
findings in alzheimer (micro) - ANSWERdecreased Ach
Abeta amyloid from Amyloid precursor protein
-neurofibrillary tangles-tau protein
acute disseminated postinfectious encephalomyelitis - ANSWERinflamm and
demyelination after infection or vaccination
, -looks like MS but spots occur all at once
charcot marie tooth disease - ANSWERperipheral nerve disorders with defective
protein
-AD
-pes cavus, LEx weakness
krabbe disease - ANSWERAR lysosomal storage disease
metachromatic leukodystrophy - ANSWERlysosomal storage disease with
arylsulfatase A deficiency-->destruction of myelin sheath
-infant with motor delay that dies
progressive multifocal leukoencephalopathy - ANSWERdestruction of
oligodendrocytes causing demyelination
-in AIDs pts with JC virus reactivation
adrenoleukodystrophy - ANSWERx linked genetic disorder with disruption of long
chain fatty acids that build up in nervous, adrenal, and testes
glioblastoma* - ANSWERcrosses corpus callosum (butterfly)
-pseudopalisading pleomorphic tumor cells
-stained with GFAP
meningioma* - ANSWERdural tumor from arachnoid cells in falx cerebri
-whorled psammoma bodies
hemangioblastoma - ANSWERcerebellar tumor of BVs associated with von hippel
lindau syndrome
schwannoma - ANSWERat cerebellopontine angle CN 8
bilateral=NF2
-central vertigo presentation
oligodendroglioma - ANSWERfrontal lobe tumor with fried egg appearance and
chickenwire capillary pattern
-calcified
pituitary adenoma* - ANSWERprolactinoma that presents with bitemporal
hemianopia
-hyper/hypopituitarism
craniopharyngioma - ANSWERchildhood tumor of rathkes pouch
-confused with pit adenoma
-mixed hormone picture with calcification
-motor oil fluid appearance
