BibTex RIS Kaynak Göster

Ataxia-Telangiectasia: Case Report of Two Siblings

Yıl 2014, Cilt: 21 Sayı: 2, 135 - 138, 01.04.2014
https://doi.org/10.7247/jtomc.2013.1059

Öz

Characterized by progressive cerebellar ataxia, cutaneous and conjuctival telangiectasia, ocular apraxy, immunodeficiency, and increased risk of malignancy, ataxia-telangiectasia is a rare neurodegenerative disorder that shows signs of autosomal recessive transmission. The ataxia-telangiectasia gene is located in chromosome 11q22-23. Various degrees of abnormalities in T and B cell immunities have also been described. It is known that the incidence of both T cell and B cell leukemia and lymphoma increased compared with the general growth of the population in Turkey. T cell malignancy can be seen at any age though B cell malignancy is more common at older ages. This report presents the case of two siblings who were diagnosed with ataxia-telangiectasia. The two siblings formerly had another sibling who was diagnosed with ataxia-telangiectasia and died from leukemia. Taking these two cases as the staring point, this study focuses on the clinical manifestations, affected systems and treatment of ataxia-telangiectasia. Key words: Ataxia-Telangiectasia; Immunodeficiency; Cerebellar Atrophy.

Kaynakça

  • Huang KY, Shyur SD, Wang CY, Shen EY, Liang DC. Ataxia telangiectasia: report of two cases. J Microbiol Immunol Infect 2001;34:71-5.
  • Forte WC, Menezes MC, Dionigi PC, Bastos CL. Different clinical and laboratory evolutions in ataxia-telangiectasia syndrome: report of four cases. Allergol Immunopathol 2005;33:199-203.
  • Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988;336:577-80.
  • Richard A. Gatti. Ataxia-telengiectasia. Dermatologic Clinics 1995;13:1-6.
  • Meyts I, Weemaes C, De Wolf-Peeters C, Proesmans M, Renard M, Uyttebroeck A, et al. Unusual and severe disease course in a child with ataxia-telangiactasia. Pediatr Allergy Immunol 2003;14:330-3.
  • http://www.esid.org. (ulaşılma tarihi: 27.06.2013)
  • Lavim MF, Lederman HM. Chromosomal breakage syndrome associated with immune deficiency In: Stiehm ER, Ochs HD, Winkelstein JA eds. Immunologic Disorders in Infants and Children. 5th edition. Philadelphia:Esevier Saunders; 2004. p.580-604.
  • Larry L, Smith MD, Stephen L. Ataxia-telangiactasia or Louis-Bar syndrome. J Am Acad Dermatol 1985;12:681-96.
  • Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A,
  • Nissenkorn A. Dermatologic manifestations of ataxia- telangiectasia syndrome. J Am Acad Dermatol 2013;68:932-6.
  • Ersoy F, Berkel AI, Sanal O, Oktay H. Twenty-year follow-up of 160 patients with ataxia-telangiectasia. Turk J Pediatr 1991:33;205-15.

Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu

Yıl 2014, Cilt: 21 Sayı: 2, 135 - 138, 01.04.2014
https://doi.org/10.7247/jtomc.2013.1059

Öz

Ataksi-telenjiektazi ilerleyici serebellar ataksi, kutanöz ve konjunktival telenjiektaziler, oküler apraksi, immün yetmezlik ve artmış malignensi riski ile karekterize nadir görülen otozomal resesif geçiş gösteren nörodejeneratif bir hastalıktır. Ataksi-telenjiektaziden sorumlu gen 11q22-23 de lokalizedir. Humoral ve hücresel immünitede değişik derecelerde bozukluklar bildirilmiştir. Hem T hücreli, hemde B hücreli lösemi ve lenfoma sıklığı genel popülasyona göre artmıştır. T hücreli tümörler hastalığın seyri sırasında herhangi bir yaşta görülürken, B hücreli tümörler daha çok ileri yaşta görülür. Bu sunumda daha önce ataksi-telenjiektazi tanısı konulup lösemi nedeniyle ölen kardeş öyküsü olan ataksi-telenjiektazili iki kardeş olgusu tartışıldı. Bu olgular nedeniyle ataksi telenjiektazinin klinik bulguları, etkilenen sistemler ve tedavisi üzerinde duruldu. Anahtar kelimeler: Ataksi Telenjiektazi; İmmün Yetmezlik; Serebellar Atrofi.

Kaynakça

  • Huang KY, Shyur SD, Wang CY, Shen EY, Liang DC. Ataxia telangiectasia: report of two cases. J Microbiol Immunol Infect 2001;34:71-5.
  • Forte WC, Menezes MC, Dionigi PC, Bastos CL. Different clinical and laboratory evolutions in ataxia-telangiectasia syndrome: report of four cases. Allergol Immunopathol 2005;33:199-203.
  • Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 1988;336:577-80.
  • Richard A. Gatti. Ataxia-telengiectasia. Dermatologic Clinics 1995;13:1-6.
  • Meyts I, Weemaes C, De Wolf-Peeters C, Proesmans M, Renard M, Uyttebroeck A, et al. Unusual and severe disease course in a child with ataxia-telangiactasia. Pediatr Allergy Immunol 2003;14:330-3.
  • http://www.esid.org. (ulaşılma tarihi: 27.06.2013)
  • Lavim MF, Lederman HM. Chromosomal breakage syndrome associated with immune deficiency In: Stiehm ER, Ochs HD, Winkelstein JA eds. Immunologic Disorders in Infants and Children. 5th edition. Philadelphia:Esevier Saunders; 2004. p.580-604.
  • Larry L, Smith MD, Stephen L. Ataxia-telangiactasia or Louis-Bar syndrome. J Am Acad Dermatol 1985;12:681-96.
  • Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A,
  • Nissenkorn A. Dermatologic manifestations of ataxia- telangiectasia syndrome. J Am Acad Dermatol 2013;68:932-6.
  • Ersoy F, Berkel AI, Sanal O, Oktay H. Twenty-year follow-up of 160 patients with ataxia-telangiectasia. Turk J Pediatr 1991:33;205-15.
Toplam 11 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Ferhat Çatal Bu kişi benim

Mahmut Aslan Bu kişi benim

Erdem Topal Bu kişi benim

Halime Ermiştekin Bu kişi benim

M. Selçuk Sinanoğlu Bu kişi benim

Yayımlanma Tarihi 1 Nisan 2014
Yayımlandığı Sayı Yıl 2014 Cilt: 21 Sayı: 2

Kaynak Göster

APA Çatal, F., Aslan, M., Topal, E., Ermiştekin, H., vd. (2014). Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu. Journal of Turgut Ozal Medical Center, 21(2), 135-138. https://doi.org/10.7247/jtomc.2013.1059
AMA Çatal F, Aslan M, Topal E, Ermiştekin H, Sinanoğlu MS. Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu. Turgut Özal Tıp Merk Derg. Nisan 2014;21(2):135-138. doi:10.7247/jtomc.2013.1059
Chicago Çatal, Ferhat, Mahmut Aslan, Erdem Topal, Halime Ermiştekin, ve M. Selçuk Sinanoğlu. “Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu”. Journal of Turgut Ozal Medical Center 21, sy. 2 (Nisan 2014): 135-38. https://doi.org/10.7247/jtomc.2013.1059.
EndNote Çatal F, Aslan M, Topal E, Ermiştekin H, Sinanoğlu MS (01 Nisan 2014) Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu. Journal of Turgut Ozal Medical Center 21 2 135–138.
IEEE F. Çatal, M. Aslan, E. Topal, H. Ermiştekin, ve M. S. Sinanoğlu, “Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu”, Turgut Özal Tıp Merk Derg, c. 21, sy. 2, ss. 135–138, 2014, doi: 10.7247/jtomc.2013.1059.
ISNAD Çatal, Ferhat vd. “Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu”. Journal of Turgut Ozal Medical Center 21/2 (Nisan 2014), 135-138. https://doi.org/10.7247/jtomc.2013.1059.
JAMA Çatal F, Aslan M, Topal E, Ermiştekin H, Sinanoğlu MS. Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu. Turgut Özal Tıp Merk Derg. 2014;21:135–138.
MLA Çatal, Ferhat vd. “Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu”. Journal of Turgut Ozal Medical Center, c. 21, sy. 2, 2014, ss. 135-8, doi:10.7247/jtomc.2013.1059.
Vancouver Çatal F, Aslan M, Topal E, Ermiştekin H, Sinanoğlu MS. Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu. Turgut Özal Tıp Merk Derg. 2014;21(2):135-8.