Tuberous Sclerosis Complex

Question 1

TSC mode of inheritance

Answer 1

Autosomal dominant

Question 2

Affected gene in TSC

Answer 2

TSC1 or TSC2

Question 3

TSC frequency

Answer 3

1/6,000-1/10,000 live births

1/20,000 population prevalence

Question 4

Types of TSC diagnosis

Answer 4

Definite diagnosis (2 major features OR one major feature with at least 2 minor features)
Possible diagnosis (One major feature OR at least 2 minor features)

Question 5

TSC major features

Answer 5

Hypomelanotic macules (at least 3, at least 5mm)
Angiofibromas (at least 3) or fibrous cephalic plaque
Ungual fibromas (at least 3)
Shagreen patch
Multiple retinal hamartomas
Cortical dysplasias
Subependymal nodules
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma
Lymphangioleiomyomatosis (LAM)
Angiomyolipomas (at least 2)

Question 6

TSC minor features

Answer 6

Confetti skin lesions
Dental enamel pits (at least 3)
Intraoral fibromas (at least 2)
Retinal achromic patch
Multiple renal cysts
Nonrenal hamartomas

Question 7

TSC1 chromosome location

Answer 7

9q34.13

Question 8

TSC2 chromosome location

Answer 8

16p13.3

Question 9

TSC testing strategy

Answer 9

TSC1/TSC2 sequence analysis–>TSC1/TSC2 del/dup analysis

Question 10

Frequency mutations are found in patients who meet TSC clinical diagnostic criteria

Answer 10

85%

Question 11

Frequency TSC1 mutations are found in patients who meet TSC clinical diagnostic criteria

Answer 11

31%

Question 12

Frequency TSC2 mutations are found in patients who meet TSC clinical diagnostic criteria

Answer 12

69%

Question 13

New TSC diagnosis recommendations

Answer 13

Brain MRI, EEG, Abdominal MRI, Blood pressure test, pulmonary function test, clinical dermatologic evaluation, clinical dental evaluation, echocardioraphy, ophthalmologic evaluation with dilated funduscopy

Question 14

TSC surveillance and management for follow-up patients

Answer 14

Brain MRI every 3-5 years for life
Screen for TSC-associated neuropsychiatric disorders (TAND) annually until 25 years old
Routine EEGs in those with seizure activity
Abdominal MRI every 1-3 years for life
Evaluate renal function annually
Check blood pressure annually
Screen for LAM at each clinical visit
HRCT every 5-10 years in asymptomatic persons/every 2-3 years if lung cysts are present
Clinical dermatologic exam annually
Clinical dental exam every 6 months with panoramic radiographs by age 7
Echo every 1-3 years until cardiac rhabdomyomas regression
ECG every 3-5 years
Ophthalmologic evaluation annually

Question 15

TAND definition

Answer 15

TSC-associated neuropsychiatric disorders

Question 16

TSC treatment

Answer 16

Patient specific management of TAND
Vigabatrin for infantile spasms
Embolization and corticosteroids for angiomyolipoma (mTOR inhibitorfor angiomyolipoma >3cm)
Surgical excision/curettage of dental lesions, oral fibromas, bony jaw lesions as necessary