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

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

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%)

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

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