An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia.
Turk J Pediatr
; 58(4): 442-445, 2016.
Article
en En
| MEDLINE
| ID: mdl-28276222
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.
Palabras clave
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tiroidectomía
/
Tiroxina
/
Ataxia Telangiectasia
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Neoplasias de la Tiroides
/
Carcinoma
/
Radioisótopos de Yodo
Límite:
Adolescent
/
Child
/
Female
/
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Turk J Pediatr
Año:
2016
Tipo del documento:
Article
País de afiliación:
Turquía