neurocutaneous disorders

Question 1

neurocutaneous disorders - types

Answer 1

1. Sturge-Weber syndrome
2. Tuberous sclerosis
3. Neurofibromatosis type 1 (von Recklinhhausen disease)
4. von Hippel-Lindau disease

Question 2

von Hippel-Lindau disease - manifestations

Answer 2

1. hemangioblastomas in retina, brain stem, cerebellum, spine
2. angiomatosis (cavernous hemangiomas in skin, mucosa, orgnas)
3. bilateral renal cell carcinoma
4. pheochromocytomas

Question 3

von Hippel-Lindau disease - hemangioblastomas in

Answer 3

1. retina
2. brain stem
3. cerebellum
4. spine

Question 4

von Hippel-Lindau disease - angiomatosis - eg.

Answer 4

cavernous hemangiomas in skin, mucosa, orgnas

Question 5

Neurofibromatosis type 1 - also called

Answer 5

von Recklinhhausen disease

Question 6

Neurofibromatosis type 1 - manifestation

Answer 6

1. cafe-au-lait spots
2. Lisch nodules (pigmented iris hamartomas )
3. cutaneous neurofibromas
4. optic gliomas
5. pheochromocytomas

Question 7

Lisch nodules

Answer 7

pigmented iris hamartomas

Question 8

Neurofibromatosis type 1 - pathophysiology

Answer 8

Mutated NF1 tumor suppressor gene (neurofibromin, a negative regulator of RAS) on chromosome 17

Question 9

NF 1 - chromosome
NF2 - chromosome
VHL - chromosome

Answer 9

NF1 –> 17
NF2 –> 22
VHL –> 3

Question 10

Neurofibromas of Neurofibromatosis type 1 are derived from

Answer 10

neural crest cells

Question 11

tuberous sclerosis - mode of inheritance

Answer 11

AD

Question 12

tuberous sclerosis - manifestations

Answer 12

1. Hamartomas (in CNS and skin) 2. Angiofibromas
2. Mitral regurgitation 4. ash leaf spots 5. cardiac rhabdomyomas 5. Metal retardation 6. renal angimyolipoma 7. seizures 8. Shangreen patches
3. high incidence of subependymal astrocytomas and ungual fibromas

Question 13

tuberous sclerosis - hamartomas in

Answer 13

1. CNS

2. skin

Question 14

ash leaf spots - definition / seen in

Answer 14

Hypomelanic macules

seen in tuberous sclerosis

Question 15

tuberous sclerosis - increased incidence of

Answer 15

subependymal astrocytomas and ungual fibromas

Question 16

Struge - weber syndrome - mode of inheritance, time of onset

Answer 16

Congenital, non-inherited (somatic)

Question 17

Struge - weber syndrome - is a … due to

Answer 17

developmental anomaly of neural crest derivatives (mesoderm/ectoderm) due to actrivating mutation of GNAQ gene

Question 18

Struge - weber syndrome - manifestation

Answer 18

1. nevus flammeus 2. ipsilateral leptomeningeal angioma 3. intellectual disability 4. episcleral hemangioma
2. early onset glaucoma 6. epilepsy/seizures

Question 19

Struge - weber syndrome - vessels

Answer 19

affects small (capillary size) blood vessels port wine stain of the face (nevus flammeus)

Question 20

Struge - weber syndrome - mutated gene

Answer 20

GNAQ

Question 21

Struge - weber syndrome - ipsilateral leptomeningeal angioma –>

Answer 21

seizures/epilepsy

Question 22

nevus flammeus:

Answer 22

nonneoplastic birthmark in CN V1/V2 distribution

Question 23

episcleral hemangioma –>

Answer 23

increased IOP –> early-onset glaucoma

Question 24

NF1 protein (and function)

Answer 24

neurofibromin, a negative regulator of RAS

Question 25

neurocutaneous disorders with seizures

Answer 25

1. Tuberous sclerosis

2. Struge - weber syndrome

Question 26

Struge - weber - glaucoma mechanism

Answer 26

episcleral hemangioma –> increased IOP –> early-onset glaucoma

Question 27

ungual fibromas

Answer 27

fibrous growths that are located around the fingernails or toenails

Question 28

Subependymal zone

Answer 28

is a cell layer below the ependyma in the lateral ventricles of the brain.

Question 29

Struge - weber syndrome - x ray findings

Answer 29

Tram track calcification (opposing gyri)

Question 30

neurocutaneous disorders with pheochromocytomas

Answer 30

1. von Hippel-Lindau disease

2. Neurofibromatosis type 1