Table 1.

Clinical data

Patient #	Sex	Age at inclusion [y]	Age at Diagnosis [d]	Mutation	sporadic / familial	First clinical manifestation	Reason for mTOR inhibition	Further manifestations
1	f	4.3	210	TSC2	sporadic	Epilepsy	SEGA	Neuro: tubers, SEN, migration lines, DD
2	m	6.2	prenatal	TSC2	sporadic	CR	Congenital focal lymphedema	Skin: subungual fibromas Neuro: Epilepsy, tubers, SEN, DD Other: lumbar scoliosis, aneurysms, renal artery stenosis
3	f	0	prenatal	NA	familial	CR	SEGA	Skin: angiofibromas, white spots, Shagreen patch Neuro: Epilepsy, tubers, DD
4	m	0.1	49	NA	sporadic	CR	SEGA	Skin: angiofibromas, white spots Neuro: Epilepsy, tubers, DD
5	m	1.5	60	NA	sporadic	CR	Epilepsy	Skin: white spots Neuro: tubers, SEN, DD Other: retinal hamartomas
6	m	0	prenatal	TSC2	familial	CR	CR	None
7	f	3.1	prenatal	TSC2	sporadic	CR	CR	Skin: white spots Neuro: Epilepsy, tubers, SEN, DD
8	f	5.1	prenatal	NA	sporadic	CR	SEGA	Skin: white spots Neuro: Epilepsy, tubers, SEN, white matter lesions, DD Other: retinal hamartomas
9	m	4	prenatal	TSC2	sporadic	CR	CR / SEGA	Skin: white spots Neuro: Epilepsy, tubers, SEN, migration lines, DD
10	m	4.1	30	NA	sporadic	CR	Epilepsy	Skin: white spots Neuro: tubers, SEGA, aberrant gyrification Other: renal angiomyolipoma
11	f	1.7	30	TSC2	sporadic	CR	CR	Neuro: Epilepsy, tubers, SEN, DD
12	m	2.1	0	TSC2	sporadic	SEGA	SEGA	Neuro: Epilepsy, tubers, SEN, white matter lesions, DD Cardiac: CR
13	m	2.6	15	TSC2	sporadic	CR	CR	Skin: white spots Neuro: tubers, SEN, DD
14	m	3.3	prenatal	TSC 2	sporadic	CR	CR	Skin: white spots, angiofibromas Neuro: Epilepsy, SEN, DD
15	m	0.9	prenatal	TSC1	sporadic	CR	CR	None
16	m	0.3	90	TSC2	sporadic	Epilepsy	Epilepsy	Neuro: tubers, SEN, DD Cardiac: CR Other: retinal hamartomas, renal angiomyolipoma
17	m	2.4	30	None	sporadic	CR	Epilepsy	Skin: white spots Neuro: tubers, SEN, DD

CR cardiac rhabdomyoma, DD developmental delay, NA not available, SEGA subependymal giant cell astrocytoma, SEN subependymal nodule