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Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları

Year 2019, Volume: 1 Issue: 2, 42 - 47, 01.07.2019

Abstract

Nörokutanöz hastalıklar, deri, göz ve sinir sistemi gibi ektodermal kökenli dokuları etkiler, çoğu otozomal dominant geçişlidir. Fakomatozlar olarak da bilinirler. Tuberoskleroz en sık görülen tek gen hastalığıdır. Spontan mutasyon olguların üçte ikisinin sebebidir. Tanı klinik ve radyolojik bulgulara göre konulur. Klasik triadı epilepsi, mental gerilik ve adenoma sebaseum olarak bilinen cilt lezyonlarıdır; bununla birlikte bu triad hastaların yalnızca yarısında görülür. Hastalarda otizm gibi davranış sorunları ortaya çıkabilir. Olguların yarısının zeka seviyesi normaldir. Klinik bulguların hepsinin birlikte görülmesi nadir olduğundan radyolojik bulguların tanınması tanı koymada önemlidir. Tüberosklerozda dört yaygın santral sinir sistemi anormalliği görülür; kortikal tüberler, subepandimal nodüller, beyaz cevher anormallikleridir ve subepandimal dev hücreli astrositomlar. Kalpte rabdomyom, böbrekte anjiomyolipom yaygın diğer radyolojik bulgulardır. Akciğer, karaciğer, gastrointestinal sistem ve kemik bulguları da görülebilir. Radyolojik görüntüleme hem tanı, hem de tedavi takibinde kullanılır. Kortikal veya subepandimal tüberler, beyaz cevher anormallikleri, kardiyak rabdomyom ve böbrekte anjiomyolipom gibi bulguların varlığı, karakteristik semptom veya cilt lezyonları olan olgularda tanıyı doğrulamamıza ve yeni olgularda herhangi bir klinik bulgu olmaksızın tüberosklerozdan şüphelenmemize yol açar. Tuberoskleroz tedavisinde ilaç tedavisi seçeneği de ortaya çıkmıştır. Tüberoskleroz tedavisinde ilaç tedavisi seçeneği de gündeme gelmiştir. Tüberosklerozun etkilediği TSC1 ve TSC2 genleri hamartin ve tuberin proteinlerini kodlamaktadır. Bu proteinler hücre çoğalması ve büyümesini kontrol eden yolağı baskılamaktadır. Rapamisin bu yolağı etkiler. Bu derlemede, tüberosklerozun santral sinir sistemi tutulumunun radyolojik özelliklerinin incelenmesi amaçlanmıştır.

References

  • 1. Ketenci HÇ, Çakır E, Demir İ, Beyhun NE. İki Epileptik Ölüm Olgusunda Post-modern Tanı: Tüberoskleroz Kompleksi. Adli Tıp Bülteni 2017; 22:218-223.
  • 2. Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol 1999; 20: 907-916.
  • 3. Erol İ, Savaş T, Şekerci S, Yazıcı N, Erbay A, Demir Ş, Saygı S, Alkan Ö. Tüberoskleroz Kompleksi; Tek Merkez Deneyimi. Türk Pediatri Arşivi 2015; 50:51-60.
  • 4. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics 2008; 28:e32.
  • 5. Mustafa Ş,Tuberosklerozis, In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, Behrman RE (eds).20. baskı, Kanada: Nelson Pediatrics,2015:2877-2879.
  • 6. Van Tassel P, Cure JK, Holden KR. Cystlike white matter lesions in tuberous sclerosis. AJNR Am J Neuroradiol 1997; 18:1367-1373.
  • 7. Houser OW, Gomez MR. CT and MR imaging of intracranial tuberous sclerosis. J Dermatol 1992; 19:904–908.
  • 8. DiPaolo D, Zimmerman RA. Solitary cortical tubers. Am J Neuroradiol 1995; 16:1360–1364.
  • 9. Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Neurol Clin 2003; 21:983-1004.
  • 10. Curatolo P, Porfirio MC, Manzi B, Seri S. Autism in tuberous sclerosis. Eur J Paediatr Neurol 2004; 8:327-332. 
 11. Kalantari BN, Salamon N. Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol 2008; 190:W304-9.
  • 12. McMurdo SK Jr, Moore SG, Brant-Zawadzki M, et al. MR imaging of intracranial tuberous sclerosis. AJR Am J Roentgenol 1987; 148:791-796. 

  • 13. Evans JC, Curtis J. The radiological appearances of tuberous sclerosis. Br J Radiol 2000; 73:91-98. 

  • 14. Leung AK, Robson WL. Tuberous sclerosis complex: a review. J Pediatr Health Care 2007; 21:108-114 

  • 15. Morimoto K, Mogami H. Sequential CT study of subependymal giant-cell astrocytoma associated with tuberous sclerosis. Case report. J Neurosurg 1986; 65:874-877.
  • 16. Moran V, O'Keeffe F. Giant cell astrocytoma in tuberous sclerosis: computed tomographic findings. Clin Radiol 1986; 37:543-545.
  • 17. Rott HD, Lemcke B, Zenker M, Huk W, Horst J, Mayer K. Cyst-like cerebral lesions in tuberous sclerosis. Am J Med Genet 2002; 111:435-439.
  • 18. Braffman BH, Bilaniuk LT, Naidich TP, et al. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. Radiology 1992; 183:227-238.
  • 19. Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006; 59:490–498.

Radiological Findings of Tuberous Sclerosis in Central Nervous System

Year 2019, Volume: 1 Issue: 2, 42 - 47, 01.07.2019

Abstract

Neurocutaneous diseases affect tissues of the ectodermal origin such as the skin, eye and nervous system, most of which are autosomal dominant. They are also known as phacomatoses. Tuberous sclerosis is the most common single gene disease. Spontaneous mutation is the cause of two-thirds of the cases. The diagnosis is made based on clinical and radiological findings. The classical triad of symptoms epilepsy, mental retardation, and skin lesions known as adenoma sebaceum; however, this triad is present in only half of the patients. Patients may experience behavioral problems such as autism. Half of the cases have normal levels of intelligence. Since coexistence of all clinical findings are rare, radiological findings are important in diagnosis. There are four common central nervous system abnormalities in tuberous sclerosis: cortical tubers, subepandimal nodules, white matter abnormalities, and subepandimal giant cell astrocytomas. Cardiac rhabdomyoma in heart and renal angiomyolipoma in kidneys are the other common radiological findings. Lung, liver, gastrointestinal system, and bone lesions can also be seen. Radiological imaging is used in both diagnosis and treatment follow-up. The presence of signs, such as cortical or subepandymal tubers, white matter abnormalities, cardiac rhabdomyoma, and kidney angiomyolipoma, helps to confirm the diagnosis in cases with characteristic symptoms or skin lesions, and it leads to suspicion of tuberous sclerosis in new cases without any clinical findings. Drug treatment option has also been emerged in the treatment of tuberous sclerosis. TSC1 and TSC2 genes affected by tuberous sclerosis encode hamartin and tuberin proteins. These proteins suppress the pathway that controls cell proliferation and growth. Rapamycin used in treatment affects this pathway. In this review, we aimed to examine the radiological features of central nervous system involvement of tuberous sclerosis.

References

  • 1. Ketenci HÇ, Çakır E, Demir İ, Beyhun NE. İki Epileptik Ölüm Olgusunda Post-modern Tanı: Tüberoskleroz Kompleksi. Adli Tıp Bülteni 2017; 22:218-223.
  • 2. Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol 1999; 20: 907-916.
  • 3. Erol İ, Savaş T, Şekerci S, Yazıcı N, Erbay A, Demir Ş, Saygı S, Alkan Ö. Tüberoskleroz Kompleksi; Tek Merkez Deneyimi. Türk Pediatri Arşivi 2015; 50:51-60.
  • 4. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics 2008; 28:e32.
  • 5. Mustafa Ş,Tuberosklerozis, In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, Behrman RE (eds).20. baskı, Kanada: Nelson Pediatrics,2015:2877-2879.
  • 6. Van Tassel P, Cure JK, Holden KR. Cystlike white matter lesions in tuberous sclerosis. AJNR Am J Neuroradiol 1997; 18:1367-1373.
  • 7. Houser OW, Gomez MR. CT and MR imaging of intracranial tuberous sclerosis. J Dermatol 1992; 19:904–908.
  • 8. DiPaolo D, Zimmerman RA. Solitary cortical tubers. Am J Neuroradiol 1995; 16:1360–1364.
  • 9. Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Neurol Clin 2003; 21:983-1004.
  • 10. Curatolo P, Porfirio MC, Manzi B, Seri S. Autism in tuberous sclerosis. Eur J Paediatr Neurol 2004; 8:327-332. 
 11. Kalantari BN, Salamon N. Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol 2008; 190:W304-9.
  • 12. McMurdo SK Jr, Moore SG, Brant-Zawadzki M, et al. MR imaging of intracranial tuberous sclerosis. AJR Am J Roentgenol 1987; 148:791-796. 

  • 13. Evans JC, Curtis J. The radiological appearances of tuberous sclerosis. Br J Radiol 2000; 73:91-98. 

  • 14. Leung AK, Robson WL. Tuberous sclerosis complex: a review. J Pediatr Health Care 2007; 21:108-114 

  • 15. Morimoto K, Mogami H. Sequential CT study of subependymal giant-cell astrocytoma associated with tuberous sclerosis. Case report. J Neurosurg 1986; 65:874-877.
  • 16. Moran V, O'Keeffe F. Giant cell astrocytoma in tuberous sclerosis: computed tomographic findings. Clin Radiol 1986; 37:543-545.
  • 17. Rott HD, Lemcke B, Zenker M, Huk W, Horst J, Mayer K. Cyst-like cerebral lesions in tuberous sclerosis. Am J Med Genet 2002; 111:435-439.
  • 18. Braffman BH, Bilaniuk LT, Naidich TP, et al. MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. Radiology 1992; 183:227-238.
  • 19. Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006; 59:490–498.
There are 18 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Research Articles
Authors

Beyza Kodaz This is me 0000-0002-6070-6932

Çağla İynem This is me 0000-0003-0829-9652

İrem Bilir This is me 0000-0003-0996-8424

Minenur Şanlıer This is me 0000-0001-9397-5429

Uğur Toprak This is me 0000-0002-1244-2485

Publication Date July 1, 2019
Published in Issue Year 2019 Volume: 1 Issue: 2

Cite

APA Kodaz, B., İynem, Ç., Bilir, İ., Şanlıer, M., et al. (2019). Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları. Türk Tıp Öğrencileri Araştırma Dergisi, 1(2), 42-47.
AMA Kodaz B, İynem Ç, Bilir İ, Şanlıer M, Toprak U. Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları. TÖAD. July 2019;1(2):42-47.
Chicago Kodaz, Beyza, Çağla İynem, İrem Bilir, Minenur Şanlıer, and Uğur Toprak. “Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları”. Türk Tıp Öğrencileri Araştırma Dergisi 1, no. 2 (July 2019): 42-47.
EndNote Kodaz B, İynem Ç, Bilir İ, Şanlıer M, Toprak U (July 1, 2019) Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları. Türk Tıp Öğrencileri Araştırma Dergisi 1 2 42–47.
IEEE B. Kodaz, Ç. İynem, İ. Bilir, M. Şanlıer, and U. Toprak, “Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları”, TÖAD, vol. 1, no. 2, pp. 42–47, 2019.
ISNAD Kodaz, Beyza et al. “Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları”. Türk Tıp Öğrencileri Araştırma Dergisi 1/2 (July 2019), 42-47.
JAMA Kodaz B, İynem Ç, Bilir İ, Şanlıer M, Toprak U. Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları. TÖAD. 2019;1:42–47.
MLA Kodaz, Beyza et al. “Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları”. Türk Tıp Öğrencileri Araştırma Dergisi, vol. 1, no. 2, 2019, pp. 42-47.
Vancouver Kodaz B, İynem Ç, Bilir İ, Şanlıer M, Toprak U. Tüberoskleroz’un Santral Sinir Sistemi Tutulumunun Radyolojik Bulguları. TÖAD. 2019;1(2):42-7.