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31 Cards in this Set

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Cobb Syndrome, aka
cutaneomeningo-spinal angiomatosis
Cobb Syndrome, skin features
port wine stain or angiokeratomas in dermatomal distribution, corresponding with segment or two of area of spinal cord
Cobb syndrome, epidemiology
not familial
onset in childhood or adolescence
M>F
Cobb syndrome, neuro features
associated with AVM or venus angioma of spinal cord
associated with angioma of vertebrae or kidney, kyphoscoloiosis
Sturge-Weber Syndrome, aka
encephalotrigeminal angiomatosis
Sturge-Weber syndrome, epidemiology
dominant partial trisomy or not familial
M=F
Sturge-Weber syndrome, skin findings
2/3 present with hemangioma at birth
ipsilateral capillary angioma or PWS in distribution of superior and middle branches of trigeminal nerve
Sturge-Weber syndrome, CNS findings
associated with cavernous sinus changes. No consistent relationship between extent of skin lesion and degree of meningeal involvement.
angioma of meninges
intracranial gyriform calcifications
MR (60%), focal epilepsy
hemiparesis, contralateral to skin lesions
visual impariment
Sturge-Weber, systemic associations
renal angioma, coarcation of aorta, high-arhed palate, abnormal ears
Osler-Weber-Rendu, aka
hereditary hemorrhagic telangiectasis
Osler-Weber-Rendu, epidemiology
AD, M=F
childhood onset
Osler-Weber-Rendu, skin findings
telangiectasia of skin and mouth
Osler-Weber-Rendu, CNS findings
angiomas of brain or spinal cord
Osler-Weber-Rendu, systemic associations
pulm AVM
anemia from hemorrhage from GI/GU bleed
Fabry-Anderson syndrome, aka
angiokeratoma corporis diffusum
Fabry-Anderson, genetics & epi
X linked recessive
males have full syndrome
Fabry - Anderson syndrome, features
angiokeratomas, cardiomegaly, extremity pain, albuminuria, hypohidrosis, htn
also: stooped posture, slender limbs, dilated tortuous conjunctival and retinal vessels
classic skin finding in Fabry - Anderson syndrome:
small clustered angiokeratomas, symmetric, mucosal, increased over bony prominences and palmar mottling
CNS findings in Fabry-Anderson syndrome
CVA, neuronal glycolipid deposition (peripheral neuritis)
Fabry disease, diagnosis
urinary glycolipids, ceramide trihexoside
slit lamp, bx renal or marrow == shows lipid deposits
ataxia telangiectasia, aka
oculocutaneous telangiectasia
ataxisa telangiectasia, genetics and epidemiology
AR
M=F, childhood onset
ataxia telangiectasia, skin findings
telangie tasia, skin inelasticity
ataxia telangiectasia, CNS findings
progressive cerebellar ataxia
ocular telangiectasia
MR
slow speech, decreased DTR, nystagmus, poor ocular control
ataxia telangiectasia, diagnosis
low IgA (or absent)
increased AFP
ataxia telangiectasia, systemic associations
absent thymus, small spleen, sinopulm infection, malignancy: reicular cell sarcoma, hodgkin's, lymphosarcoma, gastric carcinoma
von Hippel Lindau, aka
angiomatosis retinae et cerebelli syndrome
VHL, genetic and epi
AD, adult onset, M=F
VHL, skin fidings
PWS in some, most CALM
VHL, CNS findings
cerebellar hemangioblastoma
spinal hemangioblastoma (rare)
retinal hemangiomas, tangel of vessels away from disc
VHL, systemic symptoms
pheo, pancreatic cyst, hepatic angioma, renal hypernephroma, polycthemia (2/2 erythropoetic substance from tumor)