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COMSAEvon Hippel Lindau
chromosome 3
tumor suppressor gene UB1a
H-hemangioma
A-angioblast Oma
R-renal cell carcinoma
P-pheochromocytoma
Sturge-weber syndrome
GNAQ gene
unstable capillary webs
port wine stain
leptomeningeal angioma (seizures)
episcleral hemangioma (early glaucoma)
tuberous sclerosis
TSC1: chr. 9--hamartin
TSC2: chr. 16--tuberin
ash leaf spots
cardiac rhabdomyoma
renal angiomyolipoma
shagreen patch NF1
chr. 17--neurofibromin (inhibits RAS)
cafe-au-lait spots
lisch nodules
wilms tumor
scoliosis
pheochromocytoma
NF2
chr. 22--merlin (schwannomin)
bilateral acoustic schwannomas
juvenille cataracts
affects CN5, 7, 8
ependymoma/meningioma
upper motor neurons
brain to spinal cord
spastic/hypertonic/hyperreflexic
disuse atrophy
+ babinski
lower motor neurons
anterior horn to muscle
flaccid paralysis hypotonia/hyporeflexia
denervation atrophy (quick)
- babinski
fasciculations
posterior columns
discriminative touch (fine, vibration, proprioception)
ipsilateral
lateral spinothalamic tract
LST: lower segment three
pain and temperature
2-3 segments below contralateral
(lissauer's tract)
corticospinal tract
motor UMN
ipsilateral
LCST-movement of limbs
ACST-movements of axial skeleton
brown-sequard syndrome
hemi-transsection of spinal cord
ipsilateral corticospinal and posterior columns
contralateral LST cortical stroke
ACA - leg
MCA - face
PCA - vision/language
brainstem strokes
midline - motor symptoms
lateral - sensory symptoms
child brain tumors
astrocytoma
medulloblastoma
ependymoma
craniopharyngioma
pinealoma
glioblastoma multiforme
"butterfly appearance"
GFAP+
malignant, midline tumor
psuedopalisading cells
oligodendroglioma
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