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Table 3 The association of TSC signs within 16 weeks of age in ‘early diagnosed’ children (n = 82)

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

Major criteria Minor criteria Genetic diagnosis  
cardiac tumors At least one CNS lesion (SEN, cortical dysplasia or SEGA) HMs multiple retinal hamartomas multiple renal cysts retinal achromic patch TSC1/2 mutation No. of patients (%)
+ +       37 (45.1%)
+ + +      24 (29.3%)
+   +      5 (6.1%)
+ + +   +    3 (3.7%)
+ +   +     3 (3.7%)
+ +    +    3 (3.7%)
+ +      + 2 (2.4%)
+ + + +   +   1 (1.2%)
+ + +   +   + 1 (1.2%)
+ +   + +    1 (1.2%)
+ + +    +   1 (1.2%)
+ +     +   1 (1.2%)
  1. CNS central nervous system, SEN subependymal nodules, cortical dysplasia includes cortical tubers and white matter migration lines, SEGA subependymal giant cell astrocytoma, HMs hypomelanotic macules