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.
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.
Abstract
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 REPORTS |
| Authors | |
| Publication Date | January 27, 2020 |
| Submission Date | January 7, 2019 |
| Published in Issue | Year 2020 Volume: 14 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.