Bol Ch 61 Nf, Ts

Front 1

In Tuberous Sclerosis, what are the genetic mutations most commonly seen and what protein associated with?

Back 1

Autosomonal dominant

75% = new spon't mutations

TSC2>1 (3:1)

Mutation of tumor suppressor genes:
1) TSC1 = chr9q34, hamartin
2) TSC2 = chr 16q13, more severe, encodes tuberin

Front 2

What does 'Epiloia' stand for?

Back 2

Epilepsy
Low intelligance
Angiofibroma

*in TS

Front 3

For TS, what is the progress of symptoms?

Back 3

1) hypomelanotic macules (at birth),
2) Facial angiofibromas (approx 2yo),
3) Shagreen patches (4-6yo)
4) Periungual fibromas (6-8yo)

Front 4

What dx criteria for TS?

Back 4

Definite TS = 2 MAJOR or 1 M + 2minor

Probable TS = 1 M + 1m

Possible TS = 1 M or 2+m

Front 5

What are the Major dx criteria for TS?

Back 5

12
4 = cutaneous

FAST TAN CLaRK

Facial angiofibromas/forehead plaque
Ash leaf spot (>3)
Shagreen patch
Tumors (koenen, toe>fingers)

Tubers, cortical
Astrocytoma, subependyma giant cell
Nodules, subependymal

Cardiac, rahbdomyoma
Lymph...
angioleiomyomatosis
Retinal hamartomas
Kidneys, angiomyolipoma

Front 6

What are the minor dx criteria for TS?

Back 6

9

Dental pits
Bone cysts
Gingival fibromas
Confettis skin lesions
Rectal polyps
Cerebral raditiona migration lines
Multiple renal cysts
Non-renal hamartomas
Retinal achromic patch

Front 7

What is the most common type of arrhythmia in TS?

Back 7

Woff Parkinson white syndrome

-0.1-0.3% population has --> sudden death
-asymptomatic
-can be dizzy, SOB, syncope
-delta wave! (see ECG)
-bundle of kent

Front 8

What are the 4 most common TS lesions?

Back 8

Enamel pits (almost all)
Cardiac rhabdo (infants)
Hypopigmented macules
Facial angiofibromas
Multiple cortical tubers

Front 9

Ddx of TS?

Back 9

o MEN1
o hypopigmented macules: nevus depigmentosus, piebaldism, vitiligo
o shagreen patch: congenital smooth muscle hamartoma, congenital melanocytic nevus
o FAFs: acne, trichoepitheliomas

Front 10

Explain the work up for tuberous sclerosis?

Back 10

• Hx
• P/E for skin lesions (Wood’s lamp), biopsy lesions

•Neuro:
o neurodevelopmental testing
o CT/MRI brain (cortical tubers, SEN, lateral ventricle calcification), US in infants through fontanelle
o EEG (if seizures)

Cardiac:
o EKG
o echocardiography for cardiac rhabdomyomas (< 1y.o.)

Renal:
o renal US at baseline & q3–4 years

Chest:
o CT chest (women) for lymphangioleiomyomatosis

Eyes: as needed
o ophthalmologic exam for retinal hamartomas

Genetics:
o prenatal genetic testing or fetal echo

For assessing family members:
1) CT brain, 2) renal US, 3) genetic testing