Tuberous sclerosis complex in a child: diagnosis and management
Keywords:
tuberous sclerosis, autusomal dominant disorder, seizure, mental retardation, cutaneous angiofibromas
Abstract
Tuberous sclerosis complex (TSC) is a multisystem, autosomal dominant disorder affecting children and adults, resulted from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin) genes located on chromosomes 9 and 16 respectively.1,2 Synonyms of TSC are Bourneville Pringle syndrome, epiloia, or tuberosclerosis. This disorder is characterized by seizures, mental disability, and small noncancerous tumors on the skin and other body tissues, such as brain, eye, lung, and kidney. The classic triad are seizures, mental retardation, and cutaneous angiofibromas.3References
1. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355:1345-56.
2. Devlin LA, Shepherd CH, Crawford H, Morrison PJ. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland. Dev Med Child Neurol. 2006;48:495-9.
3. Schawartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007;57:189-202.
4. Singer K. Genetic Aspect of Tuberous Sclerosis in a Chinese Population. Hong Kong: Division of Psychiatry, University of Hong Kong and Psychiatric Center; 1970.
5. Plon SE, Owen J. Tuberous Sclerosis. c2008 [updated 2008 May 27; cited 2008 Nov 15]. Available from: http://www.uptodate.com.
6. Haslam RHA. Neurocutaneous syndromes. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics. 18th ed. Philadelphia: WB Saunders, 2007; p. 2483-8.
7. Holmes GL, Stafstrom CE. Tuberous sclerosis complex and epilepsy: recent developments and challenges. Epilepsia. 2007;48:617-30.
8. Northrup H, Kit-Sing A. Tuberous sclerosis complex. [updated 2005 Dec 5; cited 2008 Nov 15]. Available from: http://www.genetests.org.
9. Jozwiak S, Goodman M, Lamm SH. Poor mental development in patients with tuberous sclerosis complex. Arch Neurol. 1998;55:379-84.
10. Webb DW, Thomson JLG, Osborne JP. Cranial magnetic resonance imaging in patient with tuberous sclerosis and normal intellect. Arch Dis Child. 1991;66:1375-7.
11. Firat AK, Karakas HK, Erdem G, Yakinci C, Bicak U. Diffusion weighted MRMR findings of brain involvement in tuberous sclerosis. Diagn Interv Radiol. 2006;12:57-60.
12. Shepherd CW, Gomez MR, Lie JT, Crowsons CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc. 1991;66:792-6.
13. Patel U, Simpson E, Kingswood JC, Saggar-Malik AK. Tuberous sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma. Clin Radiol. 2005;60:665-73.
14. Avner ED. Urinary tract disorders. In: Avner ED, Harmon WE, Niaudet P, editors. Pediatrics Nephrology. 5th ed. Philadephia: Lippincott Williams & Wilkins, 2004; p. 1120-1.
15. Kerr B, Webb NJA. Renal malformation and renal involvement in syndromes. In: Webb N, Postlethwaite, editors. Clinical pediatric nephrology. 3rd ed. Manchester: Oxford Medical Publication, 2003; p. 317- 8.
16. Rose BD, Bennet WM. Renal manifestations of tuberous sclerosis and renal angiomyolipoma. [updated 2008 May 27; cited 2008 May 27]. Available from: http://www.uptodate.com.
17. Jozwiak S, Kotulska K, Obara JK, Pakieta DD,Drabik MT, Robert P, et al. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006;18:1127-51.
18. Jozwiak S, Schwart RA, Krysicka JC, Bielicka CJ. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatrics patients. J Child Neurol. 2000;15:652-9.
19. Balkan A, Tasci C, Fuhrman CR. Case of tuberous sclerosis with pulmonary involvement. Turk J Med Sci. 2007;37:235-8.
20. Bissler JJ, McCormack FX, Young RL, Elwing JM, Chuck G, Leonard JM, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Eng J Med. 2008;358:140-51.
21. Weiner HL, Carison C, Ridgway EB, Zaroff CM, Miles D, Lajoie J, et al. Epilepsy surgery in young children with tuberous sclerosis: results of a novel approach. Pediatrics. 2006;117:1494-1502.
22. Weiner HL. Tuberous sclerosis and multiple tuber: localizing the epileptogenic zone. Epilepsia. 2004;45:41-2.
2. Devlin LA, Shepherd CH, Crawford H, Morrison PJ. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland. Dev Med Child Neurol. 2006;48:495-9.
3. Schawartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007;57:189-202.
4. Singer K. Genetic Aspect of Tuberous Sclerosis in a Chinese Population. Hong Kong: Division of Psychiatry, University of Hong Kong and Psychiatric Center; 1970.
5. Plon SE, Owen J. Tuberous Sclerosis. c2008 [updated 2008 May 27; cited 2008 Nov 15]. Available from: http://www.uptodate.com.
6. Haslam RHA. Neurocutaneous syndromes. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson Textbook of Pediatrics. 18th ed. Philadelphia: WB Saunders, 2007; p. 2483-8.
7. Holmes GL, Stafstrom CE. Tuberous sclerosis complex and epilepsy: recent developments and challenges. Epilepsia. 2007;48:617-30.
8. Northrup H, Kit-Sing A. Tuberous sclerosis complex. [updated 2005 Dec 5; cited 2008 Nov 15]. Available from: http://www.genetests.org.
9. Jozwiak S, Goodman M, Lamm SH. Poor mental development in patients with tuberous sclerosis complex. Arch Neurol. 1998;55:379-84.
10. Webb DW, Thomson JLG, Osborne JP. Cranial magnetic resonance imaging in patient with tuberous sclerosis and normal intellect. Arch Dis Child. 1991;66:1375-7.
11. Firat AK, Karakas HK, Erdem G, Yakinci C, Bicak U. Diffusion weighted MRMR findings of brain involvement in tuberous sclerosis. Diagn Interv Radiol. 2006;12:57-60.
12. Shepherd CW, Gomez MR, Lie JT, Crowsons CS. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc. 1991;66:792-6.
13. Patel U, Simpson E, Kingswood JC, Saggar-Malik AK. Tuberous sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma. Clin Radiol. 2005;60:665-73.
14. Avner ED. Urinary tract disorders. In: Avner ED, Harmon WE, Niaudet P, editors. Pediatrics Nephrology. 5th ed. Philadephia: Lippincott Williams & Wilkins, 2004; p. 1120-1.
15. Kerr B, Webb NJA. Renal malformation and renal involvement in syndromes. In: Webb N, Postlethwaite, editors. Clinical pediatric nephrology. 3rd ed. Manchester: Oxford Medical Publication, 2003; p. 317- 8.
16. Rose BD, Bennet WM. Renal manifestations of tuberous sclerosis and renal angiomyolipoma. [updated 2008 May 27; cited 2008 May 27]. Available from: http://www.uptodate.com.
17. Jozwiak S, Kotulska K, Obara JK, Pakieta DD,Drabik MT, Robert P, et al. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics. 2006;18:1127-51.
18. Jozwiak S, Schwart RA, Krysicka JC, Bielicka CJ. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatrics patients. J Child Neurol. 2000;15:652-9.
19. Balkan A, Tasci C, Fuhrman CR. Case of tuberous sclerosis with pulmonary involvement. Turk J Med Sci. 2007;37:235-8.
20. Bissler JJ, McCormack FX, Young RL, Elwing JM, Chuck G, Leonard JM, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Eng J Med. 2008;358:140-51.
21. Weiner HL, Carison C, Ridgway EB, Zaroff CM, Miles D, Lajoie J, et al. Epilepsy surgery in young children with tuberous sclerosis: results of a novel approach. Pediatrics. 2006;117:1494-1502.
22. Weiner HL. Tuberous sclerosis and multiple tuber: localizing the epileptogenic zone. Epilepsia. 2004;45:41-2.
Published
2010-06-30
How to Cite
1.
Gunawan P, Harahap A, Saharso D. Tuberous sclerosis complex in a child: diagnosis and management. PI [Internet]. 30Jun.2010 [cited 23Dec.2024];50(3):181-. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/826
Section
Case Report
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Received 2016-10-07
Accepted 2016-10-07
Published 2010-06-30
Accepted 2016-10-07
Published 2010-06-30
