Ataxia-Telangiectasia: Case Report of Two Siblings

Yıl 2014, , 135 - 138, 01.04.2014

Ferhat Çatal Mahmut Aslan Erdem Topal Halime Ermiştekin M. Selçuk Sinanoğlu

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.

Anahtar Kelimeler

Ataxia-Telangiectasia; Immunodeficiency; Cerebellar Atrophy.

Ataksi-Telenjiektazi: İki Kardeş Olgunun Sunumu

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.

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.