The revised diagnostic criteria for TSC published in 2012 (Table 3) include the following [5]: (1) pathogenic mutations in the TSC1 or TSC2 gene can confirm a diagnosis of TSC; (2) the presence of two main features, or the simultaneous occurrence of one main feature and two secondary features, proves the clinical diagnosis of TSC; and (3) the presence of one main feature or two secondary features can be suspected to indicate TSC [7, 8]. The gene discussed is TSC2; the disease is tuberous sclerosis.