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

Year 2013, Volume: 38 Issue: 4, 805 - 808, 01.12.2013

Abstract

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.

References

  • 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

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

Year 2013, Volume: 38 Issue: 4, 805 - 808, 01.12.2013

Abstract

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.

References

  • 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
There are 10 citations in total.

Details

Primary Language Turkish
Journal Section Research
Authors

Hüseyin Demirbilek This is me

Serhan Küpeli This is me

Mehmet Nuri Özbek This is me

Semra Saygı This is me

Aysen Türedi Yıldırım This is me

Publication Date December 1, 2013
Published in Issue Year 2013 Volume: 38 Issue: 4

Cite

MLA Demirbilek, Hüseyin et al. “Onbuçuk yaşındaki Bir kız çocuğunda Nörofibromatoziz Tip 1 Ve otoimmün Hipertiroidizm birlikteliği”. Cukurova Medical Journal, vol. 38, no. 4, 2013, pp. 805-8.