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Table 1 Clinical and genetic characteristics of the study group of patients with TSC

From: Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications

 

Whole group (N = 10)

TSC2 (N = 5)

TSC1 (N = 4)

No mutation (N = 1)*

Sex (M/F)

6 / 4

2 / 3

4 / 0

1

Age (years)

11.78+/−4.44

10.32+/−5.41

13.25+/−3.61

13.17

Everolimus dose

5.95+/−2.08

6.99+/−1.77

4.56+/−2.1

6.3

Number of SEGA lesions

    

 • 1

7/10

2/5

4/4

1

 • ≥2

3/10

3/5

0

0

 • bilateral

3/10

3/5

0

0

Skin lesions:

    

 • Facial angiofibroma

9/10

5/5

3/4

1

 • Fibrous cephalic plaque

3/10

2/5

0/4

1

 • Hypomelanotic macules

7/10

5/5

1/4

1

 • Shagreen patch

6/10

3/5

2/4

1

Other features:

    

 • Angiomyolipomas

5/10

4/5

0/4

1

 • Multiple renal cysts

0

0

0

0

 • Cardiac rhabdomyoma

5/10

3/5

2/4

0

 • Retinal hamartomas

4/10

3/5

0

1

 • Nonrenal hamartomas

1/10

0

1/4

0

Mental retardation

7/10

5/5

1/4

1

Epilepsy

8/10

5/5

2/4

1

Number of antiepileptic drugs

    

 • 1

1/10

0

1/4

0

 • 2

4/10

3/5

0

1

 • 3

3/10

2/5

1/4

0

  1. *definite diagnosis of TSC was made according to the current clinical diagnostic criteria from The Tuberous Sclerosis Complex Diagnostic Criteria Update 2012