Aksu, GüzideDarcan, ŞükranÖzen, SamimGökşen, DamlaKaraca, NeslihanUlusoy, EzgiErtan, Yeşim2020-12-012020-12-0120160041-4301https://app.trdizin.gov.tr//makale/TWpRek1USXlNZz09https://hdl.handle.net/11454/65688Ulusoy E, Edeer-Karaca N, özen S, Ertan Y, Gökşen D, Aksu G, Darcan Ş, Kütükçüler N. An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia. Turk J Pediatr 2016; 58: 442-445.Ataxia-telangiectasia (A-T) is a rare autosomal recessive, multisystem, neurodegenerative disorder, characterized by oculocutaneous telangiectasias, variable immunodeficiency and progressive neurological impairment. Definitive diagnosis is made by revealing a disease causing mutation on ATM gene. Missense mutations and polymorphisms of ATM gene can play a role in the development of thyroid papillary carcinoma. A 13-year-old Turkish girl was diagnosed with ataxia telengiectasia at the age of 8 years. When she was 12 years old, multi-nodular goiter was detected by physical examination and ultrasonography. She underwent thyroidectomy and histopathologic investigation revealed a papillary carcinoma with follicular variant. the patient received post-operative radioiodine therapy as well as L-thyroxine treatment because she had residual lesions. Up until now, she is the first Turkish child wit A-T and thyroid carcinoma described in the literature.eninfo:eu-repo/semantics/openAccessPediatriArticle584442445