Neurocutaneous Classics

Question 1

Sturge Weber

Answer 1

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

Question 2

Tuberous Sclerosis

Answer 2

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

Question 3

Von-Hippel Lindau gene

Answer 3

AD, chr 3

Question 4

Von Hippel LIndau

Answer 4

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

Question 5

Abetalipoproteinemia protein

Answer 5

microsomal TG transfer protein

Question 6

Abetaliproteinemia symptoms

Answer 6

FFT, steatorrhea
acanthocytosis
ataxia, night blindness

Question 7

Type 1 Dyslipidemias

Answer 7

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

Question 8

Type 2 Dyslipidemias

Answer 8

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

Question 9

Type 4 Dyslipidemias

Answer 9

VLDL overproduction

pancreatitis

Question 10

Gaucher’s Disease Genetics

Answer 10

AR

glucocerebrosidase def

Question 11

Gaucher’s Disease symptoms

Answer 11

HSM
pancytopenia
aseptic necrosis of femur
Gaucher cells

Question 12

Niemann Pick Disease Genetics

Answer 12

def in sphingomyelinase
AR

Question 13

Niemann Pick Symptoms

Answer 13

progressive neurodegeneration
HSM
cherry red spot on macula
foam cells

Question 14

Tay Sach’s Genetics

Answer 14

def in hexoaminidase A

Question 15

Tay Sach’s symptoms

Answer 15

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

Question 16

Hurler’s Disease

Answer 16

AR, alpha-1-iduronidase

gargoylism, corneal clouding, developmental delay hsm

Question 17

Hunter’s Disease

Answer 17

XR, iduronate sulfatase

aggressive behavior, no corneal clouding

Question 18

Krabbe Disease

Answer 18

galactocerebrodiase
peripehral neuropathy
developmental delay, optic atrophy
globoid cells

Question 19

Metachromatic Leukodystrophy

Answer 19

AR, arylsulfatase A

central and peripheral demyleination with ataxia, dementia

Question 20

Fabry Disease

Answer 20

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

Question 21

Tuberous Sclerosis genetics

Answer 21

AD

Question 22

tuberous sclerosis mneomic

Answer 22

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

Question 23

NF-1

Answer 23

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

Question 24

Sturge Weber neuro

Answer 24

ispilateral leptomeningeal angioma

Question 25

Ducheene's

Answer 25

fibrofatty calf muscle replacement kyphoscoliosis gower's manuver

Question 26

Myotonic dystrophy

Answer 26

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

Question 27

MEN 1

Answer 27

parathyroid pituitary pancreatic calcium kidney stones, stomach ulcers

Question 28

MEN 2

Answer 28

parathyroid, medullary thyroid | pheochromocytoma

Question 29

MEN 3

Answer 29

ganglioneuromatosis med thyroid pheo marfanoid habitus

Question 30

tumor suppressor genes

Answer 30

p53, rb, brca1, apc

Question 31

oncogenes

Answer 31

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

Question 32

friedreich's ataxia genetics

Answer 32

AR GAA repeat frataxin gene childhood

Question 33

Friedreich's ataxia sympoms

Answer 33

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