Genetic and metabolic medicine
Tuberous sclerosis and Sturge-Weber syndrome
Tuberous sclerosis complex (TSC1/TSC2, mTOR overactivity) with the 2021 diagnostic criteria, renal angiomyolipoma and LAM in adults, and mTOR inhibitors; Sturge-Weber syndrome (somatic GNAQ) with the forehead port-wine birthmark, leptomeningeal angioma, seizures and glaucoma.
Tier 2Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
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Sources
- Northrup H, Aronow ME, Bebin EM et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol 2021;123:50-66International Tuberous Sclerosis Complex Consensus Group (Pediatric Neurology), 2021
- Mekahli D, Müller RU, Marlais M et al. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group. Nat Rev Nephrol 2024;20:402-420ERKNet and European Renal Association, 2024
- Bissler JJ, Kingswood JC, Radzikowska E et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2). Lancet 2013;381:817-824The Lancet, 2013
- McCormack FX, Inoue Y, Moss J et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis (MILES). N Engl J Med 2011;364:1595-1606New England Journal of Medicine, 2011
- Sabeti S, Ball KL, Bhattacharya SK et al. Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations. Pediatr Neurol 2021;121:59-66Sturge-Weber Foundation (Pediatric Neurology), 2021
- Sabeti S, Ball KL, Burkhart C et al. Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome. JAMA Dermatol 2021;157:98-104JAMA Dermatology, 2021
- El Hachem M, Diociaiuti A, Galeotti A et al. Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome. Orphanet J Rare Dis 2025;20:28Orphanet Journal of Rare Diseases, 2025
- PBS item 11591C: everolimus 2 mg dispersible tablet, General Schedule, Authority Required, refractory seizures associated with tuberous sclerosis complexAU/NZPharmaceutical Benefits Scheme, 2026
- PBS item 2818H: everolimus 2.5 mg tablet, Authority Required, tuberous sclerosis complexAU/NZPharmaceutical Benefits Scheme, 2026
- Last updated
- 14 November 2026
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