Beray SELVER EKLİOĞLU, Zehra Nihan COŞKUN, Mehmet Emre ATABEK

Optik Gliomu Olan Nörofibromatozis Tip 1 Olgusunda SantralPuberte Prekoks

Nörofibromatozis Tip 1 (NF-1) 17q11.2 geninde mutasyondan kaynaklanan otozomal dominant multisistemik bir hastalıktır. İnsidansı yaklaşık 2500-3500 canlı doğumda 1 ve prevelansı 4000-5000’de 1’dir. Karakteristik özellikleri cafeau-lait lekeleri, kıvrım yerlerinde koyulaşma ve Lisch nodülleridir. Nörofibramatosiz Tip-1 santral ve periferal sinir sistemi tümörlerinin gelişme riskinin yüksek olduğu bir hastalık olmakla birlikte pigmental anormallikler (cafe´-au-lait lekeleri, kıvrım yerlerinde koyulaşma ve Lisch nodülleri), iskelet anomalileri ve nörodavranışsal bozuklukları (öğrenme güçlüğü, dikkat eksikliği hiperakivite bozukluğu) içeren geniş nonneoplastik durumları sergiler. Nörofibramatosiz- Tip 1 hastalığının komplikasyonu olan endokrin bozukluklarının ilk tanımlamaları 1970’lere kadar gitmektedir. Bu yazıda kliniğimizde optik gliomun eşlik ettiği NF-1 ile takip edilen 8.5 yaşında erkek hastanın izleminde saptanan puberte prekoks durumu ele alınmıştır.

Central Prec0cious Puberty in Neurofibromatosis Type 1 With Optic Glioma

Neurofibromatosis type 1 (NF1) is a autosomal-dominant multi-systemic disorder derives from a mutation in the17q11.2 gene (1). The incidence is 1 in 2500-3500 live births and the prevalence is 1 in 4000-5000. The characteristicfeatures of this disease are café-au-lait spots, freckling in intertriginous regions and Lisch nodules. Although NF1 isconsidered as a tumor predisposing sydrome over cenral and peripheral nervous system tumors it presents widenonneoplastic conditions including pigmental abnormalities (are café-au-lait spots, freckling in intertriginous regions andLisch nodules), skeleton abnormalities and neurobehavioral abnormalities ( learning disorder, attention deficit disorder,hyperactivity disorder). The initial definition of endocrine disorders, the complication of NF1, goes back to the 1970s.We discussed the prececious puberty detected in the monitoring of NF1 male patient, who is 8 and a half years old,with optic pathway glioma in this paper.

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1. Fountain JW, Wallace MR, Brereton AM, O’Connell P, White RL, Rich DC, et al. Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet 1989;44:58-67.
2. Cnossen MH, Stam EN, Cooiman LC, Simonsz HJ, Stroink H, Oranje AP, et al. Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1. Pediatrics 1997;100:667-70.
3. Saxena KM. Endocrine manifestations of neurofibromatosis in children. Am J Dis Child 1970;120:265-71.
4. Laue L, Comite F, Hench K, Loriaux DL, Cutler GB Jr, Pescovitz OH. Precocious puberty associated with neurofibromatosis and optic gliomas. Treatment with luteinizing hormone releasing hormone analogue. Am J Dis Child 1985;139:1097-100.
5. Friedman JM. Epidemiology of neurofibromatosis type 1. Am J Med Genet 1999;89:1-6.
6. Hirabaru K, Matsuo M. Neurological comorbidity in children with neurofibromatosis type 1. Pediatr Int 2018;60:70-5.
7. Habiby R, Silverman B, Listernick R, Charrow J. Precocious puberty in children with neurofibromatosis type 1. J Pediatr1995;126:364-7.
8. Pescovitz OH, Comite F, Cassorla F, Dwyer AJ, 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.
9. 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.
10. Brauner R, Malandry F, Rappaport R, Zucker JM, Kalifa C, PierreKahn A, et al. Growth and endocrine disorders in optic glioma. Eur J Pediatr 1990;149:825-8.
11. Listernick R, Charrow J, Greenwald M, Mets M. Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 1994;125:63-6.
12. Stein DT. Southwestern Internal Medical Conference: New developments in the diagnosis and treatment of sexual precocity. Am J Med Sci 1992;303:53-71.
13. Zacharin M. Precocious puberty in two children with neurofibromatosis type I in the absence of optic chiasmal glioma. J Pediatr 1997;130:155-7.
14. Rubin JB, Gutmann DH. Neurofibromatosis type 1 - a model for nervous system tumour formation? Nat Rev Cancer 2005;5:557- 64.
15. Hegedus B, Yeh TH, Lee DY, Emnett RJ, Li J, Gutmann DH. Neurofibromin regulates somatic growth through the hypothalamicpituitary axis. Hum Mol Genet 2008;17:2956-66.
16. Marshall M. Interactions between Ras and Raf: key regulatory proteins in cellular transformation. Mol Reprod Dev 1995;42:493-9.