Child's Nervous System

, Volume 27, Issue 8, pp 1211–1219 | Cite as

Neurosurgical treatment of tuberous sclerosis complex lesions

Review Paper

Abstract

Background

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited syndrome. Renal disease is the main cause of death. Brain disorders are the origin of more frequent and severe problems, such as tumors, epilepsy, and mental retardation. Participation of neurosurgeons in the study and especially in the treatment of TSC patients is often required.

Materials and methods

Two types of pathological conditions mainly require neurosurgical interventions in TSC: subependymal giant cell astrocytomas (SGCA) and cortical tubers. SGCA are located in the cerebral region close to the foramina of Monroe, uni- or bilaterally, and originate in hamartomas that can grow slowly as well as rapidly, even suddenly, especially in cases with intratumoral cyst, causing increased intracranial pressure (ICP) with severe risk for visual loss and life. Neurosurgeons have to participate in the follow-up of the patients as soon as the risk of ICP exists to remove the tumor when the criteria of SGCA growth are present. The other intracranial lesions that require neurosurgical intervention by are the cortical tubers.

Conclusion

These dysplastic lesions are associated with TSC in almost the 100% of affected persons and are the cause of epilepsy in most patients. The seizures can be resistant to antiepileptic medication in many cases in which a tuber is identified as the origin of the focal seizures after functional studies, such as EEG, MR, PET, etc. In these cases, only surgical removal of the tuber and the perituberal epileptogenic foci can cure the epilepsy. Large tubers are more epileptogenic than smaller ones.

Keywords

Tuberous sclerosis complex (TSC) Subependymal giant cell astrocytoma (SGCA) Epilepsy Mental retardation Cortical tubers Neurosurgery 

References

  1. 1.
    Krueger DA, Franz DN (2008) Current management of tuberous sclerosis complex. Pediatr Drugs 10:299–313CrossRefGoogle Scholar
  2. 2.
    Pascual-Castroviejo I (2008) Vascular birthmarks of infancy: PHACE association (Pascual-Castroviejo type II syndrome and Cobb syndrome). In: Ruggieri M, Pascual-Castroviejo I, Di Rocco C (eds) Neurocutaneous disorders. Phakomatosis and hamartoneoplastic syndromes. Springer, Wien-New York, pp 19–49CrossRefGoogle Scholar
  3. 3.
    Ruggieri M, Hupadhyaya M, Di Rocco C, Gabriele A, Pascual-Castroviejo I (2008) Neurofibromatosis type 1 and related disorders. In: Ruggieri M, Pascual-Castroviejo I, Di Rocco C (eds) Neurocutaneous disorders. Phakomatosis and hamartoneoplastic syndromes. Springer, Wien-New York, pp 51–151CrossRefGoogle Scholar
  4. 4.
    Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med 355:1345–1356PubMedCrossRefGoogle Scholar
  5. 5.
    Langkau N, Martin N, Brandt R, Zügge K, Quast S, Wiegele G et al (2002) TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency rations. Eur J Pediatr 161:393–402PubMedCrossRefGoogle Scholar
  6. 6.
    Shepherd CW, Gómez MR, Lie JT, Crowson CS (1991) Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 66:792–796PubMedGoogle Scholar
  7. 7.
    Nabbout R, Santos M, Rolland Y, Delalande O, Dulac O, Chiron C (1999) Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis. J Neurol Neurosurg Psychiatry 66:370–375PubMedCrossRefGoogle Scholar
  8. 8.
    Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63:1457–1461PubMedGoogle Scholar
  9. 9.
    Boesel CP, Poulson GW, Kosnik EJ, Earle KM (1979) Brain hamartomas and tumors associated with tuberous sclerosis. Neurosurgery 4:410–417PubMedCrossRefGoogle Scholar
  10. 10.
    Brown JM (1975) Tuberose sclerosis with malignant astrocytoma. Med J Aust 1:811–814PubMedGoogle Scholar
  11. 11.
    Russell DS, Rubinstein LJ, Lumsden CE (1959) Tuberose sclerose (Bourneville's disease), subependymal giant-cell astrocytomas: tuberose sclerosis, spongio neuroblastoma and tuberose sclerosis. In: Russell DS, Rubenstein LJ, editor. Pathology of tumours of the nervous system. London: Edward Arnold, 29–30, 105–106, 169Google Scholar
  12. 12.
    Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J, Carceller F, Hernández-Moneo JL et al (2010) Astrocitoma subependimario de células gigantes en el complejo esclerosis tuberosa. Presentación de ocho pacientes infantiles. Neurologia 25:314–321PubMedGoogle Scholar
  13. 13.
    O'Callaghan FJK, Martyn CN, Renowden S, Noakes M, Presdee D, Osborne JP (2008) Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population base study. Arch Dis Child 93:751–754PubMedCrossRefGoogle Scholar
  14. 14.
    Kingsley DPE, Kendall BE, Fitz CR (1986) Tuberous sclerosis: a clinicoradiological evaluation of 110 cases with particular reference to atypical presentation. Neuroradiology 28:38–46PubMedCrossRefGoogle Scholar
  15. 15.
    Hollanda FJCS, Hollanda GMP (1980) Tuberous sclerosis. Neurosurgical indications in interventricular tumors. Neurosurg Rev 3:139–150CrossRefGoogle Scholar
  16. 16.
    Cuccia V, Zuccaro G, Sosa F, Monges J, Lubienieky F, Taratuto AL (2003) Subependymal giant cell astrocytoma in children with tuberous sclerosis. Childs Nerv Syst 19:232–243PubMedGoogle Scholar
  17. 17.
    Raju GP, Urion DK, Sahin M (2007) Neonatal subependymal giant cell astrocytoma: new case and review of the literature. Pediatr Neurol 36:128–131PubMedCrossRefGoogle Scholar
  18. 18.
    Tien RD, Hesselink JR, Duberg A (1990) Rare subependymal giant-cell astrocytoma in a neonate with tuberous sclerosis. AJNR Am J Neuroradiol 11:1251–1252PubMedGoogle Scholar
  19. 19.
    Medhkour A, Traul D, Hussain N (2002) Neonatal subependymal giant cell astrocytoma. Pediatr Neurosurg 36:271–274PubMedCrossRefGoogle Scholar
  20. 20.
    Mirkin LD, Ey EH, Chaparro M (1999) Congenital subependymal giant cell astrocytoma: case report with prenatal ultrasonogram. Pediatr Radiol 29:776–780PubMedCrossRefGoogle Scholar
  21. 21.
    Hussain N, Curran A, Pilling D, Malluci CL, Ladusans EJ, Alfirevic Z et al (2006) Congenital subependymal giant cell astrocytoma diagnosed on fetal MRI. Arch Dis Child 91:520PubMedCrossRefGoogle Scholar
  22. 22.
    Hahn JS, Bejar R, Gladson CL (1991) Neonatal subependymal giant cell astrocytoma associated with tuberous sclerosis: MRI, CT and ultrasound correlation. Neurology 41:124–128PubMedGoogle Scholar
  23. 23.
    Takata K, Gaspareto EL, Da Costa LC, Lucato LT, Reed UC, Matushita H et al (2007) Subependymal giant cell astrocytoma in patients with tuberous sclerosis: magnetic resonance imaging findings in ten cases. Arq Neuropsiquiatr 65:313–316PubMedCrossRefGoogle Scholar
  24. 24.
    Pascual-Castroviejo I, Patrón M, Gutierrez M, Carceller F, Pascual-Pascual SI (1995) Tuberous sclerosis associated with histologically confirmed ocular and cerebral tumors. Pediatr Neurol 13:172–174PubMedCrossRefGoogle Scholar
  25. 25.
    Waga S, Yamamoto Y, Kojima T, Sakakura N (1977) Massive hemorrhage in tumor of tuberous sclerosis. Surg Neurol 8:99–101PubMedGoogle Scholar
  26. 26.
    De Ribaupierre S, Dorfmüller G, Bulteau C, Fohlen M, Pinard JM, Chiron E et al (2007) Subependymal giant-cell astrocytomas in pediatric tuberous sclerosis disease: when should we operate? Neurosurgery 60:83–89PubMedGoogle Scholar
  27. 27.
    Beltrán-Marín M, Riaguas-Almanara A, Mazas-Artasona LV, Vela-Marín A, Marín-Cardenas MA, Solanas-Alava S (2009) Neurocitoma central: hallazgos en tomografía computarizada y resonancia magnética. Rev Neurol 49:383–384PubMedGoogle Scholar
  28. 28.
    Bongiorni L, Arroyo HA, Lubienicki F (2009) Complejo nódulo subependymario-astrocytoma gigantocelular en niños con esclerosis tuberosa. Med B Aires 69:8–14Google Scholar
  29. 29.
    Genitori L, Donati PA, Giordano F, Mussa F, Sanzo M, Sardo L, et al. (2006) Neurosurgical strategies in the management of subependymal giant cell tumors in tuberous sclerosis complex. In: Curatolo P, Riva D (eds) Neurocutaneous syndromes in children. John Libbey Eurotext, 117–138.Google Scholar
  30. 30.
    Di Rocco C, Iannelli A, Marchese E (1995) On the treatment of subependymal giant cell astrocytoma and associated hydrocephalus in tuberous sclerosis. Pediatr Neurosurg 23:115–121PubMedCrossRefGoogle Scholar
  31. 31.
    Turgut M, Akalan N, Ozgen T, Ruacans S, Erbengi A (1996) Subependymal giant cell astrocytoma associated with tuberous sclerosis. Diagnostic and surgical characteristics of five cases with unusual features. Clin Neurol Neurosurg 98:217–221PubMedCrossRefGoogle Scholar
  32. 32.
    Kumar R, Singh V (2004) Subependymal giant cell astrocytoma: a report of five cases. Neurosurg Rev 27:274–280PubMedGoogle Scholar
  33. 33.
    Torres OA, Roach ES, Delgado MR, Sparagana SP, Sheffield E, Swift D (1998) Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis. J Child Neurol 13:173–177PubMedCrossRefGoogle Scholar
  34. 34.
    Berhouma M (2010) Management of subependymal giant cell tumors in tuberous sclerosis complex: the neurosurgeon's perspective. World J Pediatr 6:103–110PubMedCrossRefGoogle Scholar
  35. 35.
    Franz DN, Leonard J, Tudor C, Chuck G, Care M, Sethuraman G et al (2006) Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 59:490–498PubMedCrossRefGoogle Scholar
  36. 36.
    Koenig MK, Butler IJ, Northrup H (2008) Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol 23:1238–1239PubMedCrossRefGoogle Scholar
  37. 37.
    Moavero R, Pinci M, Bombardieri R, Curately P (2011) The management of subependymal giant cell tumors in tuberous sclerosis: a clinician perspective. Child's Nerv Syst. (in press)Google Scholar
  38. 38.
    Krueger DA, Care MM, Holland K, Agricola K, Tudor C, Mangeshkar P et al (2010) Everolimus for subependymal giant-cell astrocytoma in tuberous sclerosis. N Engl J Med 363:1801–1811PubMedCrossRefGoogle Scholar
  39. 39.
    Birca A, Mercier C, Major P (2010) Rapamycin as an alternative to surgical treatment of subependymal giant cell astrocytomas in a patient with tuberous sclerosis complex. J Neurosurg Pediatr 6:381–384PubMedCrossRefGoogle Scholar
  40. 40.
    Dasgupta B, Yi Y, Chen DY, Weber JD, Gutman DH (2005) Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis1-associated human and mouse brain tumors. Cancer Res 65:2755–2760PubMedCrossRefGoogle Scholar
  41. 41.
    Pellizzi GB (1901) Contributo allo studio dell ´idiozia. Riv Sper Freniatr 27:265–269Google Scholar
  42. 42.
    Scheithauer BW, Reagan TJ (1999) Neuropathology. In: Rodriguez Gómez M, Sanpson JR, Whittemore VH (eds) Tuberous sclerosis complex. Developmental perspectives in psychiatry. 3rd edition. New York-Oxford. Oxford University Press, 101–144Google Scholar
  43. 43.
    Mizuguchi M, Takashima S (2001) Neuropathology of tuberous sclerosis. Brain Dev 23:508–515PubMedCrossRefGoogle Scholar
  44. 44.
    Gomez MR (1988) Criteria for the diagnosis. In: Gomez MR (ed) Tuberous sclerosis, 2nd edn. Raven, New York, pp 9–19Google Scholar
  45. 45.
    Jozwiak S, Schwartz RA, Janniger CK, Bielicka-Cymerman J (2000) Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 15:652–659PubMedCrossRefGoogle Scholar
  46. 46.
    Curatolo P, Bombardieri R, Verdecchia M, Seri (2005) Intractable seizures in tuberous sclerosis complex: from molecular pathogenesis to the rationale for treatment. J Child Neurol 20:318–325PubMedCrossRefGoogle Scholar
  47. 47.
    Holmes GL, Stafstrom CE, Tuberous Sclerosis Study Group (2007) Tuberous sclerosis complex and epilepsy: recent developments and future challenges. Epilepsia 48:617–630PubMedCrossRefGoogle Scholar
  48. 48.
    Thiele EA (2004) Managing epilepsy in tuberous sclerosis complex. J Child Neurol 19:680–686PubMedGoogle Scholar
  49. 49.
    Curatolo P, Seri S, Verdecchia M, Bombardieri R (2001) Infantile spasms in tuberous sclerosis complex. Brain Dev 23:502–507PubMedCrossRefGoogle Scholar
  50. 50.
    Yamamoto N, Watanabe K, Negoro T, Matsumoto A, Mizyazaki S, Kumagai R et al (1987) Long-term prognosis of tuberous sclerosis with epilepsy in children. Brain Dev 9:292–295PubMedGoogle Scholar
  51. 51.
    Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J et al (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64–80PubMedCrossRefGoogle Scholar
  52. 52.
    Gama HP, da Rocha AJ, Valerio RM, da Silva CJ, García LA (2010) Hippocampal abnormalities in an MB imaging series of patients with tuberous sclerosis. AJNR Am J Neuroradiol 31:1059–1062PubMedCrossRefGoogle Scholar
  53. 53.
    Gallagher A, Grant EP, Madan N, Jarrett DY, Lyczkowski DA, Thiele EA (2010) MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex. J Neurol 257:1373–1381PubMedCrossRefGoogle Scholar
  54. 54.
    Goodman M, Lamm SH, Engel A, Shepherd CW, Houser OW, Gomez MR (1997) Cortical tuber count: a biomarker indicating neurologic severity of tuberous sclerosis complex. J Child Neurol 12:85–90PubMedCrossRefGoogle Scholar
  55. 55.
    Kaczorowska M, Jurkiewiez E, Domanska-Pakiela D, Syczewska M, Lojszczyk B, Chmielewski D et al (2011) Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex. Epilepsia 52:22–27PubMedCrossRefGoogle Scholar
  56. 56.
    Ertan G, Arulrajah S, Tekes A, Jordan L, Huisman TA (2010) Cerebellar abnormality in children and young adults with tuberous sclerosis complex: MR and diffusion weighted imaging findings. J Neuroradiol 37:231–238PubMedCrossRefGoogle Scholar
  57. 57.
    Van der Heide A, van Huffelen AC, Spetgens WP, Ferrier CH, van Nieuwenhnizen O, Jansen FE (2010) Identification of epileptogenic zone in patients with tuberous sclerosis: concordance of interictal and ictal epileptiform activity. Clin Neurophysiol 121:842–847PubMedCrossRefGoogle Scholar
  58. 58.
    Matsuo N, Imamura A, Ito R, Sugawara K, Takahashi Y, Kondo N (2007) The correlation between 1H-MR spectroscopy and clinical manifestation with tuberous sclerosis complex. Neuropediatrics 38:126–129PubMedCrossRefGoogle Scholar
  59. 59.
    Yapici Z, Dortcan N, Baykan BB, Okan F, Dincer A, Baykal C et al (2007) Neurological aspects of tuberous sclerosis in relation to MRI/MR spectroscopy findings in children with epilepsy. Neurol Res 29:449–454PubMedCrossRefGoogle Scholar
  60. 60.
    Gallagher A, Chu-Shore CJ, Montenegro MA, Major P, Costello DJ, Lyczkowski DA et al (2009) Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex. Epilepsy Res 87:197–202PubMedCrossRefGoogle Scholar
  61. 61.
    Jacobs J, Rohr A, Moeller F, Boor R, Kobayashi E, Le Van MP et al (2008) Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI. Epilepsia 49:816–825PubMedCrossRefGoogle Scholar
  62. 62.
    Widjaja E, Wilkinson ID, Griffiths PD (2007) Magnetic resonance perfusion imaging in malformations of cortical development. Acta Radiol 48:907–917PubMedCrossRefGoogle Scholar
  63. 63.
    Sugiyama I, Imai K, Yamaguchi Y, Ochi A, Akizuki Y, Go C et al (2009) Localization of epileptic foci in children with intractable epilepsy secondary to multiple cortical tubers by using synthetic aperture magnetometry kurtosis. J Neurosurg Pediatr 4:515–522PubMedCrossRefGoogle Scholar
  64. 64.
    Major P, Rakowski S, Simon MV, Cheng ML, Escandar E, Baron J et al (2009) Are cortical tubers epileptogenic? Evidence from electrocorticography. Epilepsia 50:147–154PubMedCrossRefGoogle Scholar
  65. 65.
    Jansen FE, Van Huffelen AC, Van Rijen PC, Leijten FS, Jennekens-Schinkel A, Gosselaar P et al (2007) Epilepsy surgery in tuberous sclerosis: the Dutch experience. Seizure 16:445–453PubMedCrossRefGoogle Scholar
  66. 66.
    Liang S, Li A, Zhal M, Jiang H, Yu S, Meng X et al (2010) Epilepsy surgery in tuberous sclerosis complex: emphasis on surgical candidate and neuropsychology. Epilepsia 51:2316–2321PubMedCrossRefGoogle Scholar
  67. 67.
    Wu JY, Salamon N, Kirsch HE, Mantle MM, Nagarajan SS, Kurelowech L et al (2010) Noninvasive testing, early surgery, and seizure freedom in tuberous sclerosis complex. Neurology 74:392–398PubMedCrossRefGoogle Scholar
  68. 68.
    O'Callaghan FJK, Harris T, Joinson C, Bolton P, Noakes M, Presdee D et al (2004) The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child 89:530–533PubMedCrossRefGoogle Scholar
  69. 69.
    Prather P, de Vries PJ (2004) Behavioral and cognitive aspects of tuberous sclerosis complex. J Child Neurol 19:666–674PubMedGoogle Scholar
  70. 70.
    Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA (2005) Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology 65:235–238PubMedCrossRefGoogle Scholar
  71. 71.
    Moshel YA, Elliott R, Teutonico F, Sellin J, Carlson C, Devinsky O et al (2010) Do tubers contain function? Resection of epileptogenic foci in perirolandic cortex in children with tuberous sclerosis complex. Epilepsia 51:1242–1251PubMedCrossRefGoogle Scholar
  72. 72.
    Weiner HL, Ferraris N, La Joie J, Miles D, Devinsky O (2004) Epilepsy surgery for children with tuberous sclerosis complex. J Child Neurol 19:687–689PubMedGoogle Scholar
  73. 73.
    Chou IJ, Lin KL, Wong AM, Wang HS, Chou ML, Humg PC (2008) Neuroimaging correlation with neurological severity in tuberous sclerosis complex. Eur J Pediatr Neurol 12:108–112CrossRefGoogle Scholar
  74. 74.
    Elliott RE, Carlson C, Kalhorn SP, Moshel YA, Weiner HL, Devinsky O, Doyle WK (2009) Refractory epilepsy in tuberous sclerosis: vagus nerve stimulation with or without subsequent resective surgery. Epilepsy Behav 16:454–460PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  1. 1.Pediatric NeurologyUniversity Hospital La PazMadridSpain

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