Update of Treatment for Children of tuberous sclerosis complex
DOI:
https://doi.org/10.56511/JIPBS.2015.v2.i02.pp152-158Abstract
The children of tuberous sclerosis complex were also named Bourneville disease, and its neural symptoms and pathological change was firstly described by Bourneville in 1908. Heinrich Vogt pointed out the three main symptoms, namely epilepsy, mental retardation and facial angiofibromas. It is an autosomal dominant disease. It is an important cause of epilepsy, autism, and renal and pulmonary disease in children and adults. The appropriate therapy and prognosis for TSC patients are often different than that for individuals with epilepsy, renal tumors, or interstitial lung disease from other causes. In recent years, certain progress have been made in management of tuberous sclerosis, inhibitors of the mammalian target of rapamycin (mTOR) have demonstrated regression of astrocytomas, angiofibromas, and angiomyoliomas, as well as improved pulmonary function in persons with TSC. This article reviews the current therapeutic recommendations for medical and surgical management of neurologic, renal, and pulmonary manifestations of TSC
Keywords:
Children of tuberous sclerosis complex, Treatment, ProgressDownloads
References
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355:1345 – 56.
Huang J, Manning BD. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J. 2008;412(2):179 – 190.
Siroky BJ, Yin H, Bissler JJ. Clinical and molecular insights into tuberous sclerosis complex renal disease. Pediatr Nephrol. 2011;26:839 – 52.
Laplante M,Sabatini DM. mTOR signaling at a glance[J]. J Cell Sci,2009,122(Pt 20):3589-3594.
Plas DR, Thomas G. Tubers and tumors: rapamycin therapy for benign and malignant tumors. Curr Opin Cell Biol. 2009;21(2):230 – 236.
Inoki K, Guan KL. Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment. Hum Mol Genet. 2009;18(R1):R94 – R100.
Darcy A. Krueger, Marguerite M. Care, Katherine Holland,et al. Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis[J]. N Engl J Med, 2010, 363(19):1801-1811.
Franz DN, Leonard J, Tudor C et al. : Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann. Neurol . 59, 490 – 498 (2006).
Krueger DA, Care MM, Holland-Bouley K et al. : Everolimus for supependymal giantcell astrocytomas in tuberous sclerosis complex. N. Engl. J. Med . 363, 1801 – 1811 (2010).
DiMario FJ., Jr Brain abnormalities in tuberous sclerosis complex. J Child Neurol. 2004;19:650 – 7.
Curatolo P, D’Argenzio L, Cerminara C, Bombardieri R: Management of epilepsy in tuberous sclerosis complex. Exp. Rev. Neurother . 8, 457 – 467 (2008).
Chiron C, Dumas C, Jambaque I, Mumford J, Dulac O: Randomized trial comparing vigabatrin and hydrocortisone in infantile spasms due to tuberous sclerosis. Epilepsy Res . 26, 389 – 395 (1997).
Hancock E, Osborne JP: Vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J. Child Neurol . 14, 71 – 74 (1999).
Krueger DA, Franz DN: Current management of tuberous sclerosis complex. Paediatr. Drugs 10, 299 – 313 (2008).
Mackay MT, Weiss SK, Adams-Webber T et al. : Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Neurology 62, 1668 – 1681 (2004).
Garami A, Zwartkruis FJ, Nobukuni T et al. : Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2. Mol. Cell 11, 1457 – 1466 (2003).
Gross-Tsur V, Banin E, Shahar E, Shalev RS, Lahat E: Visual impairment in children with epilepsy treated with vigabatrin. Ann. Neurol . 48, 60 – 64 (2000).
Lawden MC, Eke T, Degg C, Harding GF, Wild JM: Visual field defects associated with vigabatrin therapy. J. Neurol. Neurosurg. Psych . 67, 716 – 722 (1999).
Manuchehri K, Goodman S, Siviter L, Nightingale S: A controlled study of vigabatrin and visual abnormalities. Br. J. Ophthalmol . 84, 499 – 505 (2000).
Vanhatalo S, Nousiainen I, Eriksson K et al. : Visual field constriction in 91 Finnish children treated with vigabatrin. Epilepsia 42, 748 – 756 (2002).
Hyman MH, Whittemore VH: National institutes of health consensus conference: tuberous sclerosis complex. Arch. Neurol . 57, 662 – 665 (2000).
Thiele EA: Managing epilepsy in tuberous sclerosis complex. J. Child Neurol . 19, 680 – 686 (2004).
Muzykewicz DA, Newberry P, Danforth N, Halpern EF, Thiele EA: Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav. 11, 506 – 513 (2007).
Kopp CM, Muzykewicz DA, Staley BA, Thiele EA, Pulsifer MB: Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 13, 505 – 510 (2008).
Lewis JC, Thomas HV, Murphy KC, Sampson JR: Genotype and psychological phenotype in tuberous sclerosis. J. Med. Genet . 41, 203 – 207 (2004).
Pulsifer MB, Winterkorn EB, Thiele EA: Psychological profile of adults with tuberous sclerosis complex. Epilepsy Behav. 10, 402 – 406 (2007).
Raznahan A, Joinson C, O’Callaghan F, Osborne JP, Bolton PF: Psychopathology in tuberous sclerosis: an overview and findings in a population-based sample of adults with tuberous sclerosis. J. Intellect. Disabil. Res . 50, 561 – 569 (2006).
Ehninger D, Han S, Shilyansky C et al. : Reversal of learning deficits in a TSC2 +/- mouse model of tuberous sclerosis. Nat. Med . 14, 843 – 848 (2008).
Krueger D, Wilfong A, Holland-Bouley K, et al. Everolimus treatment of refractory epilepsy in tuberous sclerosis complex [J]. Ann Neurol. 2013. doi: 10.1002/ana.23960.
Levine NB, Collins J, Franz DN, Crone KR: Gradual formation of an operative corridor by balloon dilation for resection of subependymal giant cell astrocytomas in children with tuberous sclerosis: specialized minimal access technique of balloon dilation. Minim. Invasive Neurosurg . 49, 317 – 320 (2006).
Shiyong Liu, Ning An, Hui Yang, and so on.The surgical treatment of Tuberous sclerosis with multiple epileptogenic zone [J]. Chinese journal of clinical neurosurgery , 2010 , 15 ( 8 ), 489491.
Franz DN, Krueger DA, Balko MG: Subependymal giant cell astrocytomas. In: Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics . Kwiatkowksi DJ, Whittemore VH, Thiele EA (Eds). Wiley-Blackwell, Germany, 211 – 228 (2010).
Major P, Thiele EA. Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex. Epilepsy Behav 2008;13:357e60.
Elliott RE, et al. Refractory epilepsy in tuberous sclerosis: vagus nerve stimulation with or without subsequent resective surgery. Epilepsy Behav 2009;16:454e60.
Parain D, Penniello MJ, Berquen P et al. : Vagal nerve stimulation in tuberous sclerosis complex patients. Pediatr. Neurol . 25, 213 – 216 (2001).
Elliott RE, Carlson C, Kalhorn SP et al. : Refractory epilepsy in tuberous sclerosis: vagus nerve stimulation with or without subsequent resective surgery. Epilepsy Behav . 16, 454 – 460 (2009).
Kossoff EH, Thiele EA, Pfeifer HH, McGrogan JR, Freeman JM: Tuberous sclerosis complex and the ketogenic diet. Epilepsia 46, 1684 – 1686 (2005).
Daniel Friedman , Miles Bogner , Kimberly Parker-Menzer ,et al. Vigabatrin for partial-onset seizure treatment in patients with tuberous sclerosis complex. Epilepsy & Behavior ,2013,27:(1):118-120.
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