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Table 1 Clinical data

From: Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

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

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