Definite diagnosis: Two major diagnostic criteria or one major with greater than or equal two minor diagnostic criteria or the presence of a TSC1 or TSC2 mutation (of confirmed pathogenicitya) Possible diagnosis: Either one major diagnostic criteria or greater than or equal two minor diagnostic criteria | |
Major criteria: | • Cortical dysplasias (incl. tubers and cerebral white matter radial migration lines) • Subependymal nodules (SEN) • Subependymal giant cell astrocytoma (SEGA) • Cardiac rhabdomyoma • Hypomelanotic macules (≥3, at least 5 mm diameter) • Angiofibromas (n ≥ 3) or fibrous cephalic plaque • Ungual fibromas (≥2) • Shagreen patch • Angiomyolipomas (≥2) b, c • Lymphangioleiomyomatosis (LAM) b • Multiple retinal hamartomas |
Minor criteria: | • ´Confetti´ skin lesions • Dental enamel pits (> 3) • Intraoral fibromas (≥2) • Multiple renal cysts • Retinal achromatic patch • Nonrenal hamartomas |
Genetics: | Identification of either a TSC1 or TSC2 pathogenic mutation in DNA from normal tissuea |