TY - JOUR T1 - Onbuçuk yaşındaki bir kız çocuğunda Nörofibromatoziz tip 1 ve otoimmün hipertiroidizm birlikteliği TT - Neurofibromatosis type 1 and autoimmune hyperthyroidism in a 10,5 years-old girl AU - Demirbilek, Hüseyin AU - Küpeli, Serhan AU - Özbek, Mehmet Nuri AU - Saygı, Semra AU - Yıldırım, Aysen Türedi PY - 2013 DA - December JF - Cukurova Medical Journal JO - Cukurova Med J PB - Cukurova University WT - DergiPark SN - 2602-3032 SP - 805 EP - 808 VL - 38 IS - 4 LA - tr AB - Nörofibromatoziz tip 1 (NF1) endokrin bozuklukların eşlik ettiği otozomal dominant geçişli multisistem bir hastalıktır. Nörofibromatoziz tip 1 ve hipertiroidizm birlikteliği nadir görülen bir durumdur. Bugüne kadar yayınlanmış olgular genellikle erişkin yaş grubundandır. Bu yazıda guatr ve tirotoksikoz bulguları ile başvuran çocuk yaş grubu bir olguda otoimmün tirotoksikoz ve NF1 birlikteliği sunulmuştur. KW - Nörofibromatoziz tip 1 KW - otoimmüne hipertiroidizm KW - Graves" hastalığı N2 - Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited multisystem disease associated with several endocrine disorders. Association of NF1 and hyperthyroidism is extremely rare. All previously reported cases were in adult age group. Herein, we present autoimmune thyrotoxicosis associated to NF1 in a pediatric patient presenting with goiter and symptoms of thyrotoxicosis. CR - National Institutes of Health. Consensus Development Conference Statement: Neurofibromatosis. Arch Neurol Chicago. 1988; 45: 575– CR - DeBella K, Szudek J, Friedman JMUse of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics. 2000; 105: 608–14. CR - Hasebe N, Aizawa H, Fujiwara M, et al. A case of von Recklinghausen's disease with pheochromocytoma and hyperthyroidism. J Jpn Soc Int Med. 1984; 73: 4 CR - Sakane N, Shirakata S, Jin MB, Torii T, Yoshida T. von Recklinghausen's disease with hyperthyroidism. Intern Med. 1997; 36: 938. CR - Bolko P, Wasko R, Waligórska J, Narozna J, Sowióski J. Graves' disease and hyperprolactinemia in a patient with Noonan syndrome neurofibromatosis type Ann Endocrinol (Paris). 2004; 65: 121-4. CR - Kevin P. Boyd, Bruce R. Korf, Amy Theos. Neurofibromatosis type 1. J Am Acad Dermatol. 2009; 61: 1–16. CR - Johnson MR, Ferner RE, Bobrow M, Hughes RA. Detailed analysis of the oligodendrocytemyelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. J Neurol Neurosurg Psychiatry 2000; 68: 643– CR - Corominas H, Guardiola JM, Matas L, Vázquez G. Neurofibromatosis and systemic lupus erythematosus. A matter of coincidence? Clin Rheumatol. 2003; 22:496–7. CR - Yesudian PD, WilsonNJE, Parslew R. Bullous pemphigoid and neurofibromatosis – a chance association requiring special vigilance. Clin Exp Dermatol. 2000; 25: 658–9. CR - Nanda A. Autoimmune diseases associated with neurofibromatosis type 1. Pediatr Dermatol. 2008;25: 392 UR - https://dergipark.org.tr/en/pub/cumj/issue//55256 L1 - https://dergipark.org.tr/en/download/article-file/47250 ER -