Tuberous sclerosis complex (TSC)

Question 1

🔺clincal

Answer 1

Seizure , mental retardation and sebaceous adenomas
Only found < 1/3 patients

Question 2

Common finding TSC

Answer 2

subependymal nodules (“tubers”) — which are hamartomas

Question 3

Common neoplasm with TCS

Answer 3

SEGA always at foramen of monro

Question 4

Genetics type TCS

Answer 4

TCS1 > ch 9 q 34 encode for hamartin
TCS 2 > ch 16 p 13 encode for tuberin

These proteins work together to inhibit activation of rapamycin (mTOR).

Question 5

Type of seizure in infant TCS

Answer 5

Myoclons

Question 6

Earliest sign for TCS in infant

Answer 6

ash leaf” macules

Question 7

Common sx in child and adult TCS

Answer 7

Tonic -clinic or partial seizure + facial adenoma ( sparing upper lip )+retinal hamartoam

Question 8

Dx

Answer 8

Question 9

MRI finding

Answer 9

Calcification in suepndymal LV or foramine of monro >
Hetrotopic > demyelination occipital lobe
HCP
Supepndymal tubers ⬆️ T2 and ⬇️T1
candle guttering sign > mri > on pneumoencephalography).

Radial bands sign: > different diffinetation
⭐️ enhancing subependymal lesions are almost always SEGAs

Question 10

Apprach

Answer 10

Trans collosal or ventriculosopic

Question 11

Cause of mortality in 2nd decade

Answer 11

Status and renal abnormalities

Question 12

Cause of mortality after 40

Answer 12

renal cysts or tumors or lymphangioleiomyomatosis.