Table 1.

Diagnostic Criteria for Tuberous Sclerosis and Testing Recommendations of Asymptomatic Patients (Adapted from Northrup H et al²)

A. Diagnostic Criteria for Tuberous Sclerosis
1. Genetic diagnostic criteria The presence of pathogenic variants in TSC1 or TSC2 genes (eg, out-of-frame indel or nonsense mutation; large genomic deletion; missense mutation).	2. Clinical diagnostic criteria 2.1) Major features  ♦ Hypomelanotic macules (≥3, at least 5-mm diameter)  ♦ Angiofibromas (≥3) or fibrous cephalic plaque  ♦ Ungual fibromas (≥2)  ♦ Shagreen patch  ♦ Retinal hamartomas (multiple)  ♦ Cortical dysplasias (≥3, including tubers and brain white matter radial   migration lines)  ♦ Subependymal nodules  ♦ Subependymal giant cell astrocytoma  ♦ Cardiac rhabdomyoma  ♦ Lymphangioleiomyomatosis*  ♦ Angiomyolipomas (≥2) * 2.2) Minor features  ♦ “Confetti” skin lesions  ♦ Dental enamel pits (>3)  ♦ Intraoral fibromas (≥2)  ♦ Retinal achromic patch  ♦ Renal cysts (multiple)  ♦ Nonrenal hamartomas *A combination of lymphangioleiomyomatosis and angiomyolipomas with no other clinical features does not meet criteria for a definite diagnosis (it is considered as only 1 major feature). Definite diagnosis: Two major features or one major feature with ≥2 minor features. Possible diagnosis: Either one major feature or ≥2 minor features.
B. Testing Recommendations for Asymptomatic Patients
Assessment	Initial Testing	Follow-Up Testing
Dermatologic examination	At diagnosis	As indicated
Ophthalmic examination	At diagnosis	As indicated
Electrocardiography	At diagnosis	At indicated
Echocardiography	If cardiac symptoms occur	If cardiac dysfunction occurs
Brain MRI	At diagnosis	Children and adolescents: every 1–3 years
Electroencephalography	At diagnosis	As indicated for seizure management
Neurodevelopmental assessment	At diagnosis and at school entry	As indicated
Chest computed tomography	In adulthood (women only)	If pulmonary dysfunction occurs
Renal Ultrasonography	At diagnosis	Every 1–3 years

Notes: Adapted from Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):243–254. Copyright © 2013 Elsevier Inc. Creative Commons CC-BY-NC-ND.²