SEREBELLAR VE SUBEPENDİMAL KALSİFİYE NODÜLLERLE KARAKTERİZE TUBEROSKLEROZ: 2 OLGU

İbrahim Şilfeler; Vefik Arıca; Murat Tutanç; Ramazan Davran; Seçil Arıca; Hanifi Bayaroğulları; Tanju Çelik; Fatmagül Başarslan

Letter to Editor

SEREBELLAR VE SUBEPENDİMAL KALSİFİYE NODÜLLERLE KARAKTERİZE TUBEROSKLEROZ: 2 OLGU

Year 2012, Volume: 3 Issue: 09, 43 - 48, 03.03.2015

İbrahim Şilfeler Vefik Arıca Murat Tutanç Ramazan Davran Seçil Arıca Hanifi Bayaroğulları Tanju Çelik Fatmagül Başarslan

Abstract

Tuberoskleroz, sıklıkla beyin ve cilt olmakla beraber birçok organ tutulumuyla giden multisistemik bir hastalıktır. Bu iki olgumuzda da serebellar tutulumun tespit edilmesi üzerine bu raporu hazırlamayı uygun gördük. Olgu1: Tekrarlayan konvülziyonlar nedeniyle tarafımıza başvuran hastanın muayenesinde cilt ve göz bulgularını saptandı. Kranyal görüntülemede lezyonların tespit edilmesi üzerine tuberoskleroz tanısı kondu. Olgu 2: Cilt lezyonları nedeniyle dermatoloji polikliniğine başvuran ve oradan tarafımıza yönlendirilen hastanın intrakranyal lezyonları ve cilt lezyonları mevcuttu. Hastaya tuberoskleroz tanısı konuldu ve takibe alındı. Tuberosklerozda serebellar tutulum nadir görülen bir durumdur. Bu lezyonların da nöronal migrasyonda veya organizasyondaki bozukluk nedeniyle geliştiği düşüncesindeyiz.

Keywords

Serebellum, Mental reterdasyon, Tuberoskleroz, Hamartom

References

) Gomez MR. Tuberous Sclerosis. Eds (Manuel Rodriguez Gomez). Raven Press New York 1988;9-19
) Suer DG, Erbil H. Familyal tuberoskleroz. Ret-Vit:1996;661-4
) Gulhan M, Erturk A, Kurt B, Capan N. Tuberoskleroz ve mikronodüler akiğer tutulumu. Solunum hastalıkları. 2000;11:112-5
) Gillberg IC, Gillberg C, Ahlsen G. Autistic behaviour and attention deficits in tuberous sclerosis: a population based study. Dev Med Child Neurol. 1994;36:50-6
) Asan İF, Ture S, Gokcay A, Karasoy H. Tuberous Sclerosis Complex and Autism. J.Neurol.Sci.[Turk], 2006:23(4):312-7
) Calisaneller T, Ozdemir O, Caner H, Altinors N. Bir Tüberoskleroz Hastasında Serebellar Kalsifikasyon: Olgu Sunumu. Turk Nöroşirurji Dergisi, 2008;18(2):134-7
) İncecik F, Herguner O, Ozcan K, Altunbasak A. Tuberosklerozlu 19 olgunun geriye dönük olarak değerlendirilmesi. Türk Pediatri Arşivi 2006; 41: 156- 60
) Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. ;615:125-7
) Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L. Diagnostic criteria, tuberous sclerosis complex: report of the diagnostic criteria committee of the national tuberous sclerosis association. J Child Neurol 1992; 7: 221-4.
) Castillo M, Whaley RA, Point SW, Black JA: Gyriform enhancement in tuberous sclerosis simulating infarction. Radiology 1992;185: 613-4
) Fitzpatrick TB. History and significance of white macules, earliest visible sign of tuberous sclerosis. Ann NY Acad Sci 1991; 615:26.
) Incecik F, Herguner O, Ozcan K, Altunbasak A. Tuberosklerozlu 19 olgunun geriye dönük olarak değerlendirilmesi. Turk Ped. Ars. 2006;41:156-60
) Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol. 1998;13:624–8
) Purkait R, Samanta T, Thakur S, Dhar S. Neurocutaneous syndrome: a prospective study. Indian J Dermatol. 2011 Jul;56(4):375-9.
) Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J: Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci ;99:13571-6

TUBEROUS SCLEROSİS WİTH CHARACTERİZED CALCİFİED SUBEPENDYMAL NODULES AND CEREBELAR: 2 CASE

Year 2012, Volume: 3 Issue: 09, 43 - 48, 03.03.2015

İbrahim Şilfeler Vefik Arıca Murat Tutanç Ramazan Davran Seçil Arıca Hanifi Bayaroğulları Tanju Çelik Fatmagül Başarslan

Abstract

Tuberous sclerosis, is a multisystemic disease with many organ involvements that frequently leading to the brain and the skin. We thought that is suitable to prepare this report on the detection of cerebellar involvement in this two case too. Case1: The findings of skin and eye were revealed at the examination of patient who was admitted to our clinic with recurrent seizures. Tuberous sclerosis was diagnosed with detection of lesions on cranial imaging. Case 2 Patient had skin lesions and cranial lesions who was admitted to dermatology outpatient clinic with skin lesions and referred from there by us . The patient was diagnosed with tuberous sclerosis and was followed. In the Tuber sclerosis, serebellar involvement is a rare condition. We consider that these lesions developed due to the disorder of neuronal migration or organization. We report two cases of rare for this to remind you.

Keywords

Cerebellum, Mental retardation, tuberous sclerosis, hamartoma

References

) Gomez MR. Tuberous Sclerosis. Eds (Manuel Rodriguez Gomez). Raven Press New York 1988;9-19
) Suer DG, Erbil H. Familyal tuberoskleroz. Ret-Vit:1996;661-4
) Gulhan M, Erturk A, Kurt B, Capan N. Tuberoskleroz ve mikronodüler akiğer tutulumu. Solunum hastalıkları. 2000;11:112-5
) Gillberg IC, Gillberg C, Ahlsen G. Autistic behaviour and attention deficits in tuberous sclerosis: a population based study. Dev Med Child Neurol. 1994;36:50-6
) Asan İF, Ture S, Gokcay A, Karasoy H. Tuberous Sclerosis Complex and Autism. J.Neurol.Sci.[Turk], 2006:23(4):312-7
) Calisaneller T, Ozdemir O, Caner H, Altinors N. Bir Tüberoskleroz Hastasında Serebellar Kalsifikasyon: Olgu Sunumu. Turk Nöroşirurji Dergisi, 2008;18(2):134-7
) İncecik F, Herguner O, Ozcan K, Altunbasak A. Tuberosklerozlu 19 olgunun geriye dönük olarak değerlendirilmesi. Türk Pediatri Arşivi 2006; 41: 156- 60
) Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci. ;615:125-7
) Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L. Diagnostic criteria, tuberous sclerosis complex: report of the diagnostic criteria committee of the national tuberous sclerosis association. J Child Neurol 1992; 7: 221-4.
) Castillo M, Whaley RA, Point SW, Black JA: Gyriform enhancement in tuberous sclerosis simulating infarction. Radiology 1992;185: 613-4
) Fitzpatrick TB. History and significance of white macules, earliest visible sign of tuberous sclerosis. Ann NY Acad Sci 1991; 615:26.
) Incecik F, Herguner O, Ozcan K, Altunbasak A. Tuberosklerozlu 19 olgunun geriye dönük olarak değerlendirilmesi. Turk Ped. Ars. 2006;41:156-60
) Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria. J Child Neurol. 1998;13:624–8
) Purkait R, Samanta T, Thakur S, Dhar S. Neurocutaneous syndrome: a prospective study. Indian J Dermatol. 2011 Jul;56(4):375-9.
) Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J: Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci ;99:13571-6

There are 15 citations in total.

Details

Primary Language	Turkish
Subjects	Health Care Administration
Journal Section	Case Report
Authors	İbrahim Şilfeler This is me Vefik Arıca This is me Murat Tutanç This is me Ramazan Davran This is me Seçil Arıca This is me Hanifi Bayaroğulları This is me Tanju Çelik This is me Fatmagül Başarslan This is me
Publication Date	March 3, 2015
Submission Date	February 28, 2015
Published in Issue	Year 2012 Volume: 3 Issue: 09

Cite

Vancouver	Şilfeler İ, Arıca V, Tutanç M, Davran R, Arıca S, Bayaroğulları H, Çelik T, Başarslan F. SEREBELLAR VE SUBEPENDİMAL KALSİFİYE NODÜLLERLE KARAKTERİZE TUBEROSKLEROZ: 2 OLGU. mkutfd. 2015;3(09):43-8.

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