Sketchy Path: Neuro - "Sturge-Weber & Tuberous Sclerosis"

Question 1

Sturge-Weber presents with ________________.

Answer 1

port-wine stain (woman with wine spilled on her face on the SouthWest train)

Question 2

SW is caused by a mutation in which protein?

Answer 2

GNAQ (like the coGNAQ being spilled)

Question 3

True or false: Sturge-Weber is an inherited condition.

Answer 3

False

It is a mutation that occurs after fertilization (represented by the mosaic jar).

Question 4

Sturge-Weber causes an overgrowth of _______________.

Answer 4

small blood vessels (like the tiny blue and red sticks in the vase on the table)

Question 5

SW causes port-wine stains in which dermatomes?

Answer 5

V1 and V2 (like the spill on the woman’s face)

Question 6

The most dangerous manifestation of SW is _____________.

Answer 6

leptomeningeal angiomas (like the red hat on the same side as the flame nevus)

Question 7

What are the leptomeninges?

Answer 7

The inner two layers of the dura

Question 8

Describe the seizures seen in Sturge-Weber.

Answer 8

• Occurring contralateral to the flame nevus with hemiparesis (woman dropping her hand opposite the side of her spill)
• Difficult to treat

Question 9

SW can cause early-onset _____________ in children.

Answer 9

glaucoma (like the eye teapot on the table)

Question 10

On CT, those with Sturge-Weber will often have ______________.

Answer 10

intracranial tramtrack calcifications (like the snow on the train tracks outside the window)

Question 11

The hallmark of tuberous sclerosis is __________________.

Answer 11

hamartomas throughout the body (like the field of guys HAMmering outside the window)

Question 12

The two places that CNS hamartomas form in tuberous sclerosis are ______________.

Answer 12

cortical and subependymal (like the potato chips on the inside and outside of the platter)

Question 13

Review the symptoms of TS.

Answer 13

• Seizures (kid shaking)
• Intellectual disability (kid with menu upside down)
• Hydrocephalus (guy with hydrocephalus helmet)
• Ash-leaf spots (kid with leaves on his sweater)
• Adenoma sebaceum (kid with red dots on his cheeks)
• Shagreen patches: leathery, dimpled skin most commonly on the back (slice of salami on the back of the kid looking out the window)
• Rhabdomyoma (pieces of salami in the heart case)
• DPLD (pulmonary fibrosis lungs on table)
• Angiomyolipomas in the kidney (ketchup, meat, and butter on kidney tray)