BibTex RIS Kaynak Göster

Tuberous sclerosis - A case report and review of literature

Yıl 2012, Cilt: 34 Sayı: 1, 79 - 85, 27.03.2012

Hari Krishan Aggarwal Deepak Jain , Promil Jain , Vipin Kaverappa Ashwani Kumar Sachin Yadav

Öz

Abstract

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by involvement of multiple system including central nervous system, kidney, skin, heart, lungs, and eye. It is frequently associated with skin lesions (96%); seizures (90%) and mental retardation (70%). Most common lesions associated with TSC are angiofibroma of face, ashleaf macules, shagreen patches, subependymal nodules, cortical tubers, mental retardation, and angiomyolipomas of kidney. The small benign tumours in the brain of affected individuals are the cause of neurological manifestations of the disorder. As prognosis depends on the involvement of brain, kidney and other vital organs; routine screening of a patient with tuberous sclerosis is required to determine the involvement of other organ systems. Combined skills of physician, radiologists and psychologist are required to manage a patient with TSC.

Keywords: Tuberous sclerosis, angiomyolipomas, shagreen patches, subependymal nodules, ashleaf macules, seizures

Özet

Tüberoz skleroz kompleksi santral sinir sistemi, böbrek, deri, kalp, akciğerler ve göz gibi çoklu sistem tutulumlu nörokutanöz bir sendromdur. Deri lezyonları(%96), nöbetler(%90) ve mental retardasyonla (%70) ilişkilidir. En sık görülen lezyonlar yüzde anjiofibrom, ash-leaf makülleri, shagreen lekeleri, subependimal nodüller, kortikal tüberler, mental retardasyon ve böbrekte anjiomyolipomlardır. Hastalığın nörolojik bulgularının nedeni beyindeki küçük benign tümörlerdir. Prognoz beyin, böbrek ve diğer hayati organların tutulumuna bağlı olduğu için diğer sistemik organ tutulumları da rutin taranmalıdır. Tüberoz sklerozlu hastanın tedavisinde hastayı izleyen hekimin ; radyolog ve psikiatristle de işbirliği içerisinde olması gerekmektedir.

Anahtar sözcükler: Tüberoz skleroz, anjiomyolipomlar, shagreen patchler, subependimal nodüller, ash-leaf maküller, nöbetler

Anahtar Kelimeler

-

Kaynakça

  • Inoki K, Guan KL. Tuberous sclerosis complex, implication from a rare gnetic disease to common cancer treatment. Hum Mol Genet 2009; 18(R1): R94-100.
  • Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, Lee CN. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. BMC Med Genet 2006; 7: 72.
  • Tuberous sclerosis fact sheet. NINDS: 2006-04-11. Retrieved 2007-01-09.
  • Curatolo P, Verdechia M. Neurological Manifestations. In: Curatolo P (Eds). Tuberous sclerosis complex: from basic science to clinical phenotypes. London McKeith Press 2003; pp: 26-45.
  • Cutando A, Gil JA, Lopez T. Oral health management implications in patients with tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endol 2000; 90; 430-5.
  • Korol UB, Schoor R, Nanda V, Almas K, Phelan JA. Gingival enlargement as a manifestation of tuberous sclerosis: case report and periodontal management. J Periodontol 2008; 79: 759-63.
  • Fahsold R, Rott HD, Lorenz P. A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus. Hum Genet 1991; 88: 85-90.
  • Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004; 19: 643-9.
  • Ridler K, Suckling J, Higgins NJ, de Vries PJ, Stephenson CM, Bolton PF, Bullmore ET. Neuroanatomical correlates of memory deficits in tuberous sclerosis complex. Cereb Cortex 2007; 17: 261-71.
  • Ridler K, Suckling J, Higgins N, Bolton P, Bullmore E. Standardized whole brain mapping of tubers and subependymal nodules in tuberous sclerosis complex. J Child Neurol 2004; 19: 658-65.
  • DiMario FJ. Brain abnormalities in tuberous sclerosis complex. J Child Neurol 2004; 19: 650-7.
  • Lie JT. Cardiac, pulmonary, and vascular involvement in tuberous sclerosis. Annals of the New York Academy of Science 1991; 68: 58-70.
  • Cope JT, Lindsey JH, Kron IL. Cardiac tumours. In Mavroudis C, Backer CL. Pediatric cardiac surgery.3rd ed. Philadelphia: Mosby 2003; 3: 689-701.
  • Schwartz RA, Fernandez G, Kotulska K, Jozwick S. Tuberous Sclerosis Complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 2007; 57: 189-202.
  • Yates JR. Tuberous sclerosis. Eur J Hum Genet 2006; 14: 1065-73.
  • Chiron C, Dulac O, Beaumont D, Palacios L, Pajot N, Mumford J. Therapeutic trial of Vigabatrin in refractory infantile spasms. J Child Neurol 1991; 2: S52-9.
  • Aicardi J, Mumford JP, Dumas C, Wood S. Vigabatrin as initial therapy for infantile spasms: a European retrospective survey. Sabril IS Investigator and Peer Review Groups. Epilepsia 1996; 37: 638-42.
  • Franz DN, Tudor C, Leonard J. Topiramate as initial therapy in tuberous sclerosis complex-associated seizures. Epilepsia 2000; 41: 87.
  • Shepherd C, Gomez M, Lie J, Cronson C. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66: 792-6.

Tüberoz skleroz bir vaka ve literatürün gözden geçirilmesi

Yıl 2012, Cilt: 34 Sayı: 1, 79 - 85, 27.03.2012

Hari Krishan Aggarwal Deepak Jain , Promil Jain , Vipin Kaverappa Ashwani Kumar Sachin Yadav

Öz

Tüberoz skleroz kompleksi santral sinir sistemi, böbrek, deri, kalp, akciğerler ve göz gibi çoklu sistem tutulumlu nörokutanöz bir sendromdur. Deri lezyonları(%96), nöbetler(%90) ve mental retardasyonla (%70) ilişkilidir. En sık görülen lezyonlar yüzde anjiofibrom, ash-leaf makülleri, shagreen lekeleri, subependimal nodüller, kortikal tüberler, mental retardasyon ve böbrekte anjiomyolipomlardır. Hastalığın nörolojik bulgularının nedeni beyindeki küçük benign tümörlerdir. Prognoz beyin, böbrek ve diğer hayati organların tutulumuna bağlı olduğu için diğer sistemik organ tutulumları da rutin taranmalıdır. Tüberoz sklerozlu hastanın tedavisinde hastayı izleyen hekimin; radyolog ve psikiatristle de işbirliği içerisinde olması gerekmektedir

Anahtar Kelimeler

Tüberoz skleroz anjiomyolipomlar shagreen patchler subependimal nodüller ash-leaf maküller nöbetler

Kaynakça

  • Inoki K, Guan KL. Tuberous sclerosis complex, implication from a rare gnetic disease to common cancer treatment. Hum Mol Genet 2009; 18(R1): R94-100.
  • Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, Lee CN. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex. BMC Med Genet 2006; 7: 72.
  • Tuberous sclerosis fact sheet. NINDS: 2006-04-11. Retrieved 2007-01-09.
  • Curatolo P, Verdechia M. Neurological Manifestations. In: Curatolo P (Eds). Tuberous sclerosis complex: from basic science to clinical phenotypes. London McKeith Press 2003; pp: 26-45.
  • Cutando A, Gil JA, Lopez T. Oral health management implications in patients with tuberous sclerosis. Oral Surg Oral Med Oral Pathol Oral Radiol Endol 2000; 90; 430-5.
  • Korol UB, Schoor R, Nanda V, Almas K, Phelan JA. Gingival enlargement as a manifestation of tuberous sclerosis: case report and periodontal management. J Periodontol 2008; 79: 759-63.
  • Fahsold R, Rott HD, Lorenz P. A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus. Hum Genet 1991; 88: 85-90.
  • Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004; 19: 643-9.
  • Ridler K, Suckling J, Higgins NJ, de Vries PJ, Stephenson CM, Bolton PF, Bullmore ET. Neuroanatomical correlates of memory deficits in tuberous sclerosis complex. Cereb Cortex 2007; 17: 261-71.
  • Ridler K, Suckling J, Higgins N, Bolton P, Bullmore E. Standardized whole brain mapping of tubers and subependymal nodules in tuberous sclerosis complex. J Child Neurol 2004; 19: 658-65.
  • DiMario FJ. Brain abnormalities in tuberous sclerosis complex. J Child Neurol 2004; 19: 650-7.
  • Lie JT. Cardiac, pulmonary, and vascular involvement in tuberous sclerosis. Annals of the New York Academy of Science 1991; 68: 58-70.
  • Cope JT, Lindsey JH, Kron IL. Cardiac tumours. In Mavroudis C, Backer CL. Pediatric cardiac surgery.3rd ed. Philadelphia: Mosby 2003; 3: 689-701.
  • Schwartz RA, Fernandez G, Kotulska K, Jozwick S. Tuberous Sclerosis Complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 2007; 57: 189-202.
  • Yates JR. Tuberous sclerosis. Eur J Hum Genet 2006; 14: 1065-73.
  • Chiron C, Dulac O, Beaumont D, Palacios L, Pajot N, Mumford J. Therapeutic trial of Vigabatrin in refractory infantile spasms. J Child Neurol 1991; 2: S52-9.
  • Aicardi J, Mumford JP, Dumas C, Wood S. Vigabatrin as initial therapy for infantile spasms: a European retrospective survey. Sabril IS Investigator and Peer Review Groups. Epilepsia 1996; 37: 638-42.
  • Franz DN, Tudor C, Leonard J. Topiramate as initial therapy in tuberous sclerosis complex-associated seizures. Epilepsia 2000; 41: 87.
  • Shepherd C, Gomez M, Lie J, Cronson C. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66: 792-6.
Toplam 19 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Olgu Sunumları
Yazarlar

Hari Krishan Aggarwal

Deepak Jain

Promil Jain

Vipin Kaverappa

Ashwani Kumar

Sachin Yadav

Yayımlanma Tarihi 27 Mart 2012
Yayımlandığı Sayı Yıl 2012Cilt: 34 Sayı: 1

Kaynak Göster

AMA Aggarwal HK, Jain D, Jain P, Kaverappa V, Kumar A, Yadav S. Tuberous sclerosis - A case report and review of literature. CMJ. Mart 2012;34(1):79-85.