Hüseyin DEMİRBİLEK, Serhan KÜPELİ, Mehmet Nuri ÖZBEK, Semra SAYGI, Aysen Türedi YILDIRIM

Onbuçuk yaşındaki bir kız çocuğunda Nörofibromatoziz tip 1 ve otoimmün hipertiroidizm birlikteliği

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.

Anahtar Kelimeler:

Nörofibromatoziz tip 1, otoimmüne hipertiroidizm, Graves" hastalığı

Neurofibromatosis type 1 and autoimmune hyperthyroidism in a 10,5 years-old girl

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.

Keywords:

Keywords: Neurofibromatosis type 1, autoimmune hyperthyroidism, Graves" disease,

PDF

___

National Institutes of Health. Consensus Development Conference Statement: Neurofibromatosis. Arch Neurol Chicago. 1988; 45: 575–
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.
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
Sakane N, Shirakata S, Jin MB, Torii T, Yoshida T. von Recklinghausen's disease with hyperthyroidism. Intern Med. 1997; 36: 938.
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.
Kevin P. Boyd, Bruce R. Korf, Amy Theos. Neurofibromatosis type 1. J Am Acad Dermatol. 2009; 61: 1–16.
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–
Corominas H, Guardiola JM, Matas L, Vázquez G. Neurofibromatosis and systemic lupus erythematosus. A matter of coincidence? Clin Rheumatol. 2003; 22:496–7.
Yesudian PD, WilsonNJE, Parslew R. Bullous pemphigoid and neurofibromatosis – a chance association requiring special vigilance. Clin Exp Dermatol. 2000; 25: 658–9.
Nanda A. Autoimmune diseases associated with neurofibromatosis type 1. Pediatr Dermatol. 2008;25: 392