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Table 2 TSC signs observed within 16 weeks of age in patients with ‘early TSC diagnosis’ (n = 82)

From: Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

TSC signs

Major criteria

Minor criteria

Pathogenic

CTs

SEN

CD

SEGA

HMs

MRH

MRC

RAP

TSC1/2

mutation

No. of patients

82

71

66

5

35

5

8

2

3

Per cent %

100%

86.6%

80.5%

6.1%

42.7%

6.1%

9.8%

2.4%

3.7%

  1. CTs cardiac tumors, SEN subependymal nodules, CD cortical dysplasia: includes cortical tubers and white matter migration lines, SEGA subependymal giant cell astrocytoma, HMs hypomelanotic macules, MRH multiple retinal hamartomas, MRC multiple renal cysts, RAP retinal achromic patch
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172