Table 1 Patient characteristics at last visit

Sex (n, %)

 Male

19 (54.3)

 Female

16 (45.7)

CA (years; mean ± SD (range))

13.5 ± 7.8 (0.75–29.5)

CA < 18 years, n (%)

26 (74.3)

CA at diagnosis (years; mean ± SD (range))

1.3 ± 3.5 (0–20.5)

First presenting signs and symptoms, n (%)

 Seizures/epilepsy

22 (62.9)

 Infantile spasms

7 (23.3)

 Cardiac rhabdomyoma

10 (28.6)

Organ manifestations, n (%)*

 Cortical tubers

32 (91.4)

 SEN

29 (82.9)

 SEGA

8 (22.9)

 Cardiac rhabdomyoma

22 (62.9)

 Renal AML

15 (42.9)

 Renal cysts

17 (48.6)

 Retinal hamartoma

2 (5.7)

 Epilepsy, n (%)

30 (85.7)

Genetics, n (%)

 Testing completed

23 (65.7)

 TSC1 mutation**

6 (26.1)

 TSC2 mutation

15 (65.2)

 NMI

2 (8.7)

 Positive family history for TSC

12 (34.3)