OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS

Zehra Nihan Coşkun

doi:10.12956/tchd.509106

OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS

Abstract

Nörofibromatozis Tip 1 (NF1) 17q11.2 geninde mutasyondan kaynaklanan otozomal dominant multisistemik bir hastalıktır (1). İnsidansı yaklaşık 2500-3500 canlı doğumda 1 ve prevelansı 4000-5000 de 1dir. Karakteristik özellikleri cafe´-au-lait lekeleri, kıvrım yerlerinde koyulaşma ve Lisch nodülleridir (iris hamartomazu). NF1 santral ve periferal sinir sistemi tümörleri (gliom ve nörofibrom) üzerine tümör predispozan sendrom olarak düşünülse de pigmental anormallikler (cafe´-au-lait lekeleri, kıvrım yerlerinde koyulaşma ve Lisch nodülleri), iskelet anomalileri ve nörodavranışsal anomalileri (öğrenme güçlüğü, dikkat eksikliği hiperakivite bozukluğu) içeren geniş nonneoplastik durumları sergiler (2.3). NF1 in komplikasyonu olan endokrin bozukluklarının ilk tanımlamaları 1970lere kadar gitmektedir, bunların birçoğu izole vaka raporu veya vaka serisidir. Bu yazıda kliniğimizde optik gliomun eşlik ettiği NF1 ile takip edilen 8 yaş 6 aylık erkek hastanın izlemlerinde tespit edilen puberte prekoks durumunu ele aldık.

Keywords

nörofibromatozis tip 1,optik gliom,puberte prekoks,GnRH analoğu

References

1. Fountain JW, Wallace MR, Brereton AM, O’Connell P, White RL, Rich DC et al. Physicalmapping of the vonRecklinghausen neurofibromatosisr egion on chromosome17. Am J Hum Genet 1989; 44: 58–67.
2.Friedman JM, Gutmann DH, MacCollin M, Riccardi VM. Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. 3rd ed. Baltimore: Johns Hopkins Press, 1999
3. Hirabaru K, Matsuo M. Neurological comorbidity in children with neurofibromatosis type 1. Pediatr Int. 2018;60(1):70-5.
4. Mulvihill JJ, Parry DM, Sherman JL, Pikus A, Kaiser-Kupfer MI, Eldridge R: NIH conference. Neurofibromatosis 1 (Recklinghausen Disease) and Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis). An Update. Ann Intern Med 1990; 113: 39–52.
5. Cnossen MH, Stam EN, Cooiman LC, Simonsz HJ, Stroink H, Oranje AP et al: Endocrinologic disorders and optic path waygliomas in children with neurofibromatosis type 1. Pediatrics 1997; 100: 667–70.
6. SaxenaKM: Endocrinemanifestations of neurofibromatosis in children. Am J DisChild 1970; 120: 265–71.
7. Laue L, Comite F, Hench K, Loriaux L, CutlerGB, Pescovitz OH: Precocious puberty associated with neurofibromatosis and optic gliomas. Am J Dis Child 1985; 139: 1097–1100.
8. Habiby R, Silverman B, Listernick R, CharrowJ: Precocious puberty in children with neurofibromatosis type 1. J Pediatr 1995; 126: 364–67.

9. PescovitzOH, Comite F, Cassorla F, DwyerAJ, Poth MA, Sperling MA et al: True precocious puberty complicating congenital adrenal hyperplasia: treatment with a luteinizing hormone-releasing hormone analog. J Clin Endocrinol Metab 1984; 58: 857–61.
10. Kotwal N, Yanamandra U, Menon AS, Nair V: Central precocious puberty due to hypothalamic hamartoma in a six-month-old infant girl. Indian J Endocrinol Metab 2012; 16: 627–30.
11. Brauner R, Malandry F, Rappaport R, Zucker JM, Kalifa C, Pierre-Kahn A et al: Growth and endocrine disorders in optic glioma. Eur J Pediatr 1990; 149: 825–28.
12. Listernick R, Charrow J, Greenwald M, MetsM: The national history of optic path way tumors in children with neurofibromatosis type1: a longitudinal study. J Pediatr 1994; 125: 63–66.
13. Grumbach MM, Kaplan SL: The neuroendocrinology of human puberty: an ontogenetic perspective; in Grumhach MM, Sizonenko PC, Aubert ML (eds): Control of the Onset of Puberty. Baltimore, Williams & Wilkins, 1990, pp 1–68.
14. Stein DT: Southwestern Internal Medicine Conference. New developments in the diagnosis and treatment of sexual precocity. Am J Med Sci 1992; 303: 53–71.
15. Zacharin M: Precocious puberty in two children with neurofibromatosis type 1 in the absence of optic chiasmal glioma. J Pediatr 1997; 130: 155–57.
16. Rubin JB, Gutmann DH: Neurofibromatosis type 1 – a model for nervous system tumour formation? Nat Rev Cancer 2005; 5: 557–64.
17. Hegedus B, Yeh TH, Lee da Y, Emnett RJ, Li J, Gutmann DH: Neurofibromin regulates somatic growth through the hypothalamic-pituitary axis. Hum Mol Genet 2008; 17: 2956–66
18. Marshall M: Interactions between Ras and Raf: key regulatory protein in cellular transformation. Mol Reprod Dev 1995; 42: 493–99.

Details

Primary Language

Turkish

Subjects

Internal Diseases

Journal Section

Case Report

Authors

Zehra Nihan Coşkun ^*
0000-0002-3111-6888
Türkiye

Publication Date

January 27, 2020

Submission Date

January 7, 2019

Acceptance Date

April 2, 2019

Published in Issue

Year 2020 Volume: 14 Number: 1

DOI

https://doi.org/10.12956/tchd.509106

IZ

https://izlik.org/JA22RE48RH

Cite

RIS / Bibtex

APA

Coşkun, Z. N. (2020). OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS. Türkiye Çocuk Hastalıkları Dergisi, 14(1), 89-91. https://doi.org/10.12956/tchd.509106

AMA

1.Coşkun ZN. OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS. Turkish J Pediatr Dis. 2020;14(1):89-91. doi:10.12956/tchd.509106

Chicago

Coşkun, Zehra Nihan. 2020. “OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS”. Türkiye Çocuk Hastalıkları Dergisi 14 (1): 89-91. https://doi.org/10.12956/tchd.509106.

EndNote

Coşkun ZN (January 1, 2020) OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS. Türkiye Çocuk Hastalıkları Dergisi 14 1 89–91.

IEEE

[1]Z. N. Coşkun, “OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS”, Turkish J Pediatr Dis, vol. 14, no. 1, pp. 89–91, Jan. 2020, doi: 10.12956/tchd.509106.

ISNAD

Coşkun, Zehra Nihan. “OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS”. Türkiye Çocuk Hastalıkları Dergisi 14/1 (January 1, 2020): 89-91. https://doi.org/10.12956/tchd.509106.

JAMA

1.Coşkun ZN. OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS. Turkish J Pediatr Dis. 2020;14:89–91.

MLA

Coşkun, Zehra Nihan. “OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS”. Türkiye Çocuk Hastalıkları Dergisi, vol. 14, no. 1, Jan. 2020, pp. 89-91, doi:10.12956/tchd.509106.

Vancouver

1.Zehra Nihan Coşkun. OPTİK GLİOMU OLAN NÖROFİBROMATOZİS TİP 1 OLGUSUNDA SANTRAL PUBERTE PREKOKS. Turkish J Pediatr Dis. 2020 Jan. 1;14(1):89-91. doi:10.12956/tchd.509106