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Louis-Bar sendromu (ataxia-telangiectasia)

Kalıtsal -AR

Özel tür: Nijmegen kırılma (Seemanova) sendromu

Gelişme geriliği

Serebellar atrofi

Ataksi

Üst ekstremitelerde tremor (5. yaş öncesinde)

9 yaşında beliren zeka geriliği

Anlaşılamayan konuşma

Yineleyen kafa sallamalar (koreoatetoz)

Okülomotor apraksi

Tendon refleksleri güçsüz

Göz ve deri telangiektazileri (4.-6. yaşlarda)

Göz kasları güçsüzlüğü (nistagmus)

Timus displazisi

Lenfositopeni (lenfoid dokularda folikül oluşmaması)

İmmunoglobulin A (IgA) eksikliği

İmmun defektler (akut rinit, sinüzit, kulak infeksiyonları,

bronşit ve bronşiektazi, pnömoni)

Burun kanamaları

Café-au-lait

Deri patolojileri

Saçlarda erken beyazlanma-dökülme

Diabetes mellitus

Ovaryum yetmezliği

Kanser riski (Malign lenfoma ve lösemi sık)

Kanda alpha-fetoprotein (AFP) yüksek

 

  • Boder E. Ataxia-telangiectasia: an overview. In: RA Gatti, M Swift, eds. Ataxia-Telangiectasia: Genetics, Neuropathy, and Immunology of a Degenerative Disease of Childhood. Alan R Liss, New York, 1985

  • Lefton-Greif MA, Crawford TO, Winkelstein JA, et al. Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia. Journal of Pediatrics, 136:225–231, 2000

  • Gatti RA. Ataxia-telangiectasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed., pp.705-732, McGraw-Hill, New York, NY, 2001

  • Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair (Amsterdam), 3(8-9):1187-1196, 2004

  • McKinnon PJ. ATM and ataxia telangiectasia. EMBO Reports, 5(8):772-776, 2004

  • Taylor AM, Byrd PJ. Molecular pathology of ataxia telangiectasia. Journal of Clinical Pathology, 58(10):1009-1015, 2005

  • Staples ER, McDermott ERM, Reiman A, et al. Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clinical&Experimental Immunology, 153:214–220, 2008

  • Bhatt JM, Bush A, van Gerven M, et al. European Respiratory Society. ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia. The European Respiratory Review, 24:565–581, 2015