Questions and
Complete Solutions
Graded A+
Denning [Date] [Course title]
,von hippel lindau - Answer: chromosome 3
tumor suppressor gene UB1a
H-hemangioma
A-angioblastoma
R-renal cell carcinoma
P-pheochromocytoma
sturge-weber syndrome - Answer: GNAQ gene
unstable capillary webs
portwine stain
leptomeningeal angioma (seizures)
episcleral hemangioma (early glaucoma)
tuberous sclerosis - Answer: TSC1: chr. 9--hamartin
TSC2: chr. 16--tuberin
ash leaf spots
cardiac rhabdomyoma
renal angiomyolipoma
shagreen patch
NF1 - Answer: chr. 17--neurofibromin (inhibits RAS)
cafe-au-lait spots
lisch nodules
wilms tumor
scoliosis
pheochromocytoma
NF2 - Answer: chr. 22--merlin (schwannomin)
bilateral acoustic schwannomas
, juvenille cataracts
affects CN5, 7, 8
ependymoma/meningioma
upper motor neurons - Answer: brain to spinal cord
spastic/hypertonic/hyperreflexic
disuse atrophy
+ babinski
lower motor neurons - Answer: anterior horn to muscle
flaccid paralysis
hypotonia/hyporeflexia
denervation atrophy (quick)
- babinski
fasciculations
posterior columns - Answer: discriminative touch (fine, vibration, proprioception)
ipsilateral
lateral spinothalamic tract - Answer: *LST: lower segment three*
pain and temperature
2-3 segments below contralateral
(lissauer's tract)
corticospinal tract - Answer: motor UMN
ipsilateral
LCST-movement of limbs
ACST-movements of axial skeleton