Neurocutaneous Diseases

Question 1

Tuberous Sclerosis Patho

Answer 1

genetic base, multiple beningn tumours: brain, skin, other organs…

Question 2

Tuberous Sclerosis- Neurological abnormalities:

Answer 2

seizures,
progressive psychomotor retardation,
slowly progressive mental deterioration

Question 3

Tuberous Sclerosis: Skin lesions:

Answer 3

• Adenoma sebaceum (reddened facial nodules)
• Shagreen patches (leathery plaques on the trunk)
• Ash leaf (hypopigmented) patches

Question 4

Tuberous Sclerosis Cardiac and Eye manifestations

Answer 4

Retinal lesions

Cardiac rhabdomyomas

Question 5

Tuberous Sclerosis tx

Answer 5

There is no specific treatment. Control seizures.

Question 6

Confirmatory Dx for Tuberous Sclerosis

Answer 6

TSC1 or TSC2 gene test, as those are the one affected!

Question 7

Neurofibromatosis (von Recklinghausen Disease): What are the Neurofibromas:?

Answer 7

soft, flesh-colored lesions attached to peripheral nerves

Question 8

Neurofibromatosis affects this nerve in a particular way

Answer 8

Eighth cranial nerve tumors

Question 9

Neurofibromatosis has these Cutaneous lesions

Answer 9

Cutaneous hyperpigmented lesions (café au lait spots)

Question 10

Neurofibromatosis has these kinds of tumours

Answer 10

Meningioma and gliomas

Question 11

Neurofibromatosis treatment

Answer 11

There is no specific treatment. Eighth cranial nerve lesions may need surgical decompression to help preserve hearing.

Question 12

Sturge-Weber Syndrome has 3 main CxFx

Answer 12

Port-wine stain of the face
Seizures
CNS: homonymous hemianopsia, hemiparesis, mental subnormality

Question 13

Sturge-Weber Syndrome shows in skull x-ray

Answer 13

calcification of angiomas.

“Tram-pattern” on calcified brain

Question 14

Sturge-Weber Syndrome tx

Answer 14

There is no treatment beyond controlling seizures.

Question 15

Sturge-Weber Syndrome is also called

Answer 15

encephalotrigeminal angiomatosis