Day 11 Flashcards
Botox Mech
Blocks presynaptic ACh release at NMJ
Tension HAs Description
Bilateral, band-like squeezing/pressure/burning
Scintillating Scotoma
Most common visual manifestation of aura. Shimmering/zig-zag light in periphery that grows
Paroxysmal hemicrania (what it is, accompanied by, treatment)
Unilateral brief HA, associated w/ ipsilateral autonomic features, responds to indomethacin
Associated Psychiatric Comorbidity w/ PCOS
Depression
Carbidopa Mech
Inhibits DOPA Decarboxylase, preventing change of L-Dopa to DA, so that L-Dopa can cross the BBB
COMT Inhibitors (mech and 2)
Tolcapone and entacapone
Prevent peripheral degradation of L-Dopa and peripheral+central degradation of L-Dopa+DA, so increase levels all around. Often taken w/ levo-carbi
Mad Hatter Syndrome
Manic sx from chronic mercury intoxication
Paranoid PD Defense Mech
Projection
Sturge-Weber Inheritance
Sporadic, not genetically inherited
Hallmark(s) of Sturge-Weber
Facial cutaneous angioma (port-wine nevus), usually w/ ipsilateral brain angioma
5 Other Sturge-Weber Sx
Contralateral hemiparesis ID Homonymous hemianopsia Glaucoma -> blindness Seizures
Von-Hippel Lindau Inheritance/Chromosome
AD mutation in tumor suppressor gene on Ch 3
Von-Hippel Lindau Predominant Presentation
Retinal and CNS hemangioblastomas + visceral cysts/tumors
VHL 3 Tumor/Cyst Types
Most common CNS: cerebellar hemangioblastomas, 50%
Renal cysts: 50%
Pheochromocytoma: 10-20%
VHL Tx
Freq f/u + screening for tumors
Ataxia-Telangiectasia (inheritance pattern + what it is)
AR neurodegenerative d/o w/ early onset ataxia in childhood
Ataxia-Telangiectasia 2 Main Presentation + 1 Other
Ataxia develops ~ 12 mo, when child starts to learn to walk
Telangiectasias later, 3-6y/o, and often around ears/nose/sclera
Also abn eye movements
Ataxia-Telangiectasias Associated Illnesses
Leukemia + lymphomas
Fabry’s Ds (inheritance pattern/what it is/deficiency)
XL lysosomal storage disease, deficiency in alpha-galactosidase A
Fabry’s Ds 5 Sx/Progression
Main: asx red/purple papules around umbilicus, hips, thighs, scrotum
Corneal deposits
Pain dysesthesias of distal ext
Central thrombosis/hemorrhage
Eventual vascular narrowing from glycolipid deposition in arterial endothelium
Fabry’s Ds Cause of Death
Renal failure from renal vascular compromise
Fabry’s Ds Tx
Nothing really. Renal xplant can delay but not cure
