Long-term follow up of a tuberous sclerosis patient: evaluation of anti-epileptic drugs and self- management support therapy
Abstract
Tuberous sclerosis (TSC) (OMIM 191100) is an inherited, autosomal dominant disorder affecting multiple organ systems.1 A genetic mutation in one of the tumor suppressor gene (TSG) alleles causes tumor growth in various organ systems. Tuberous sclerosis can be found in people of all races, and does not differ in men and women, with an incidence 1 in 6,000 births and prevalence of 1 in 20,000.1-3 Although the prevalence is quite high, diagnosing this disorder is often difficult and delayed due to diverse disease manifestations and varied age at onset.
References
2. Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics. 2011;127:e117-25. DOI: 10.1542/peds.2010-0192.
3. Krueger DA, Northrup H. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference on behalf of the International Tuberous Sclerosis Complex Consensus Group. Pediatr Neurol.
2013;49:255-65. DOI: 10.1016/j.pediatrneurol.2013.08.002.
4. Curatolo P, Moavero R, de Vries PJ. Neurological and neuropsychiatric aspects of tuberous sclerosis complex. Lancet Neurol. 2015;14:733-45. DOI: 10.1016/S1474-4422(15)00069-1.
5. de Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, C. K, et al. Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015;52:25-35. DOI: 10.1016/j.pediatrneurol.2014.10.004.
6. Rentz AM, Skalicky AM, Liu Z, Wheless JW, Dunn DW, Frost MD, et al. Tuberous sclerosis complex: a survey of health care resource use and health burden. Pediatr Neurol. 2015;52:435-41. DOI: 10.1016/j.pediatrneurol.2014.11.013.
7. Salt?k S, Karatoprak EY, Ta?el B. Characteristics and the clinical course of epilepsy in patients with tuberous sclerosis complex. Turkish Pediatr Arch/Turk Pediatr Ars. 2013;48:123-30. DOI: 10.4274/tpa.116.
8. Park SM, Lee YJ, Son YJ, Kim YO, Woo YJ. Clinical progress of epilepsy in children with tuberous sclerosis: prognostic factors for seizure outcome. Chonnam Med J. 2011;47:150-4. DOI: 10.4068/cmj.2011.47.3.150.
9. Rayer O. Tuberous Sclerosis Complex. Pediatr child Heal. 2012;25:1-20.
10. Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Thelancet. 2008;372. DOI: 0.1016/S0140-6736(08)61279-9.
11. Appleton RE, Cross JH. Drug treatment of paediatric epilepsy. [cited 2018 September 1] Available from: https://www.epilepsysociety.org.uk/sites/default/files/attachments/Chapter30AppletonCross2015.pdf.
12. Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the international tuberous sclerosis consensus group. J Am Heart Assoc. 2014. DOI: 10.1161/JAHA.114.001493.
13. Henry HKM, Schor EL. Supporting Self-Management of Chronic Health Problems. Pediatrics. 2015;135:789-92. DOI: 10.1542/peds.2014-3431.
14. Raphael JL, Rueda A, Lion KC, Giordano TP. The role of lay health workers in pediatric chronic disease: a systematic review. Acad Pediatr. 2013;13:408-20. DOI: 10.1016/j.acap.2013.04.015.
15. Amin S, Mallick AA, Lux A, O’Callaghan F. Quality of life in patients with tuberous sclerosis complex (TSC). Eur J Paediatr Neurol. 2019;23:801-7. DOI: 10.1016/j.ejpn.2019.09.006.
16. Holmes GL, Stafstrom CE. Tuberous Sclerosis Complex and Epilepsy: Recent Developments and Future Challenges. Epilepsia. 2007;48:617-30. DOI: 10.1111/j.1528-1167.2007.01035.x.
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Accepted 2020-01-06
Published 2020-01-06