TSC is a genetically and clinically heterogeneous disorder. Each patient will face specific and individual challenges related to the effects that the disease has on them.
Epilepsy will pose the greatest challenge to most patients with TSC. As many as 60% to 90% of patients with TSC will require chronic epilepsy management.[23]Holmes GL, Stafstrom CE; Tuberous Sclerosis Study Group. Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia. 2007 Apr;48(4):617-30.
http://onlinelibrary.wiley.com/doi/10.1111/j.1528-1167.2007.01035.x/full
http://www.ncbi.nlm.nih.gov/pubmed/17386056?tool=bestpractice.com
Medications, effective diet therapies, and surgical approaches can result in good outcomes for many, yet a lifelong and continuing problem will persist for most. This is particularly true for children who have infantile spasms that evolve into more refractory epilepsy.[2]Gomez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. Oxford: Oxford University Press; 1999.[3]Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5.
http://www.ncbi.nlm.nih.gov/pubmed/10815131?tool=bestpractice.com
[26]DiMario FJ Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):650-7.
http://www.ncbi.nlm.nih.gov/pubmed/15563010?tool=bestpractice.com
As many as 50% to 60% of patients will have cognitive and behavioral problems; these can often be managed with educational and behavior modification and drug treatments.[7]de Vries PJ, Belousova E, Benedik MP, et al. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet J Rare Dis. 2018 Sep 10;13(1):157.
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0901-8
http://www.ncbi.nlm.nih.gov/pubmed/30201051?tool=bestpractice.com
[40]Kopp CM, Muzykewicz DA, Staley BA, et al. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 2008 Oct;13(3):505-10.
http://www.ncbi.nlm.nih.gov/pubmed/18602868?tool=bestpractice.com
Dermatologic lesions can be treated with a combination of finely directed laser therapies. This intervention can remove the angiofibromas of the face, and minimize their cosmetic and potentially medically-compromising presence.[2]Gomez M, Sampson J, Whittemore V, eds. The tuberous sclerosis complex. Oxford: Oxford University Press; 1999.[3]Hyman MH, Whittemore VH. National Institutes of Health consensus conference: tuberous sclerosis complex. Arch Neurol. 2000 May;57(5):662-5.
http://www.ncbi.nlm.nih.gov/pubmed/10815131?tool=bestpractice.com
[26]DiMario FJ Jr. Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004 Sep;19(9):650-7.
http://www.ncbi.nlm.nih.gov/pubmed/15563010?tool=bestpractice.com
Renal disease will affect many older children and adults, because the progressive nature of angiomyolipomas will be realized in these age groups. Surveillance and nonsurgical interventions (selective renal embolization) can be beneficial in minimizing the detrimental effects of specific lesions on renal function and minimizing the likelihood of hemorrhage.