The Turkish Journal of Pediatrics 2016 , Vol 58 , Num 4
An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia
Ezgi Ulusoy 1 ,Neslihan Edeer-Karaca 1 ,Samim Özen 1 ,Yeşim Ertan 2 ,Damla Gökşen 1 ,Güzide Aksu 1 ,Şükran Darcan 1 ,Necil Kütükçüler 1
1 Departments of Pediatrics, Ege University Faculty of Medicine, İzmir, Turkey
2 Departments of Pathology, Ege University Faculty of Medicine, İzmir, Turkey
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. Keywords : ataxia telengiectasia, papillary thyroid carcinoma

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