Neurocutaneous Classics Flashcards Preview

Integrative Week Two > Neurocutaneous Classics > Flashcards

Flashcards in Neurocutaneous Classics Deck (33):
1

Sturge Weber

- port wine stain in V1 ophthalmic
- seizures
- MR
- hemiparesis
- glaucoma

2

Tuberous Sclerosis

Harmartomas in skin and CNS, Adenoma Sebaceum, hypopigmented macules, MR, AD

3

Von-Hippel Lindau gene

AD, chr 3

4

Von Hippel LIndau

cavernous hemangiomas in skin
bilateral renal cell (clear cell)
hemangioblastoma in retina
brainstem/cerebellum
pheochromocytosis

5

Abetalipoproteinemia protein

microsomal TG transfer protein

6

Abetaliproteinemia symptoms

FFT, steatorrhea
acanthocytosis
ataxia, night blindness

7

Type 1 Dyslipidemias

-Chylomicrons
- LPL def
- no atherosclerosis
- abd pain + xanthomas

8

Type 2 Dyslipidemias

- LDL
- no LDL receptors
- Atherosclerosis
- tubular/Achilles xanthomas, corneal acrus, xanthelasam

9

Type 4 Dyslipidemias

VLDL overproduction
pancreatitis

10

Gaucher's Disease Genetics

AR
glucocerebrosidase def

11

Gaucher's Disease symptoms

HSM
pancytopenia
aseptic necrosis of femur
Gaucher cells

12

Niemann Pick Disease Genetics

def in sphingomyelinase
AR

13

Niemann Pick Symptoms

progressive neurodegeneration
HSM
cherry red spot on macula
foam cells

14

Tay Sach's Genetics

def in hexoaminidase A

15

Tay Sach's symptoms

progressive degeneration
developmental delay
cherry red spot on macula
lysosomes with onion skin

16

Hurler's Disease

AR, alpha-1-iduronidase
gargoylism, corneal clouding, developmental delay hsm

17

Hunter's Disease

XR, iduronate sulfatase
aggressive behavior, no corneal clouding

18

Krabbe Disease

galactocerebrodiase
peripehral neuropathy
developmental delay, optic atrophy
globoid cells

19

Metachromatic Leukodystrophy

AR, arylsulfatase A
central and peripheral demyleination with ataxia, dementia

20

Fabry Disease

alpha galactosidase A, XR
peripheral neuropathy of hands/feets
angiokeratoms
CV/renal disease

21

Tuberous Sclerosis genetics

AD

22

tuberous sclerosis mneomic

harmartoms in CnS and skin, angiofibromas, MitralRegurg, ashl-leaf spots, rhabdomyosis (cardiac), MR, (renal) angiomyolipoma, seizures/shagreen patches

23

NF-1

ch 17
cafe au lait spots, lisch nodules, neurofibromas in skin
pheochromocytomas

24

Sturge Weber neuro

ispilateral leptomeningeal angioma

25

Ducheene's

fibrofatty calf muscle replacement
kyphoscoliosis
gower's manuver

26

Myotonic dystrophy

hatchet facies, frontal balding
abnormally slow muscle relaxation
catarcts
gonadal atrophy

27

MEN 1

parathyroid
pituitary
pancreatic
calcium kidney stones, stomach ulcers

28

MEN 2

parathyroid, medullary thyroid
pheochromocytoma

29

MEN 3

ganglioneuromatosis
med thyroid
pheo
marfanoid habitus

30

tumor suppressor genes

p53, rb, brca1, apc

31

oncogenes

abl, c/l/n-myc
ret
her2/neu
bcl2

32

friedreich's ataxia genetics

AR
GAA repeat
frataxin gene
childhood

33

Friedreich's ataxia sympoms

kyphoscolisos, staggering gait, frequent falling
nystagmua, dysarthria
hammer toes, pes cavus
hypertrophic CM, DM