Ersoy HAZNECİ, Gürsoy DOĞAN, Başak KANDI, Hamdi ÖZCAN

Nörofibromatozis

Nörofibromatozis (NF), deri, sinir sistemi ve gözde belirtiler oluşturan ve otozomal dominant geçiş gösteren bir hastalıktır. Hastalığın tip 1 (NF1) ve tip 2 (NF2) olmak üzere iki alt tipi tanımlanmıştır. NF1, 17. kromozomdaki, NF2 ise 22. kromozomdaki gen defekti sonucunda gelişir. NF1, 3000 doğumda bir görülürken, NF2 sıklığının yaklaşık olarak 1/50000 olduğu tahmin edilmektedir. Polikliniğimize vücudunda benler ve deriden kabarık lezyonlar şikayeti ile başvuran hastanın, çocuklarının ikisinde de benzer benlerin bulunduğunu ifade etmesi üzerine aile bireylerinin hepsi muayene edildi. Anne ve iki çocuğunda da Crowe belirtisi mevcuttu, ayrıca annede toplam 10 adet değişik bölgelere yerleşmiş nörofibromların bulunduğu görüldü. Yapılan tam kan sayımı, açlık kan şekeri, karaciğer ve böbrek fonksiyon testleri, idrar ve gaita incelemeleri, akciğer ve uzun kemik grafileri normal olarak değerlendirildi. Olguların üçünün de göz muayenesinde bilateral Lish nodülü izlendi. Kranial magnetik rezonans incelemesi ve nörolojik muayeneleri normaldi. Annenin nörofibromları eksize edildi. Histopatolojik inceleme sonucunda pleksiform nörofibrom oldukları belirlendi. Bu bulgular sonucunda olgulara NF1 tanısı konuldu. Anneye ketotifen 2 mg/gün başlanıldı. Burada NF1'li anne ve iki çocuğu sunulacak ve hastalıkta görülen bulgular gözden geçirilecektir.

Neurofibromatosis

Neurofibromatosis (NF) is an autosomal dominantly inherited disease, commonly manifested in the skin, nervous system and eyes. The disease can be divided into subtypes according to clinical findings as NF type 1 (NF1) and type 2 (NF2). The responsible gene was determined on 17th chromosome for NF1 and on 22nd chromosome for NF2. The prevalence has been estimated at 1/3000 for NF1 and at 1/50000 for NF2 in new borns. A 36 year-old woman was admitted to our department with the complains of pigmented macules and soft, elevated lesions. Her two children bore pigmented lesions on the skin like the mother. All of the three patients had Crowe's sign and the mother had ten neurofibromas in different parts of the body. Routine blood analyses, roentgenograms, cranial magnetic resonance imaging results and the neurologic examination were withın normal limits. In the ophtalmological examination bilateral Lish nodules were determined. In the histopathologic examination, the soft elevated lesions of mother were diagnosed as plexiform neurofibromas. According to these findings all three patients were diagnosed as NF1. The mother was administered ketotifene 2 mg/day. In this paper a mother and her two children with NF1 were presented and the clinical findings of the disease were discussed.

PDF

___

1. Pivnick HK, Riccardi YM. The neurofibromatosis. In: E'recdberg İM, Lisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, b'ıtzpatrick TB cds. Dermatology in General Medicine. .S'1' cd. New York: McGraw-Hill 1999: 2152-8.
2. Neurofibromatosis. Conference Statement. National Institues of Health Consensus Development Conference. Arch Neurol 1988; 45: 575-8.
3. Harper Jl. I'amilial multible tumour syndrome. In: Champion RJI, Burton JL, Burns DA, Brcathnach SM cds. Textbook of Dermatology. 6th ed. Oxford: Blackwell Science Ltd 1998; 378-84.
4. Lazaro C, Gaona A, Aim-worth P, Tenconi 11, Vidaud D, Kxuyer II, Ars H. Volpini V, Ustivill X. Sex differences in mutational rate and mutational mechanism in the Nl'l gene in neurofibromatosis type 1 patients. Hum Genet 1996; 98: 696-9.
5. MeGaughran JM, Harris DI, Donnai D, Teare D, MacLeod R, Wcsterbcek R, Kingston II, Super M, Harris R, l'.vans DG. A clinical study of type 1 neurofibromatosis in northwest England. J Med Genet 1999; 36: 197-203.
6. Landau M, Krafchik BR. The diagnostic value of cafe-au-laif macules, j Am Acad Dermatol 1999; 40: 877-90.
7. Arnsmeier SL, Riccardi VM, Paller AS. I'amilial multible cafe au lair spots. Arch Dermatol 1994; 130: 1425-6,
8. Riccardi VM. Mast cell stabilization to decrease neurofibroma growth. Preliminary-experience with ketotifen. Arch Dermatol 1987; 123: 1011-6.
9. North K, Joy P, Vuille D, Cocks N, Mobbs E, Hutchtns P, Mcllugh K, de Suva M. Specific learning disability in children with neurofibromatosis type 1: significance of Mill abnormalities. Neurol 1994; 44: 878-83.
10. Ilofman KJ, Boehm CD. I'amilial neurofibromatosis type 1: clinical experience with DNA testing. J Pcdiatr 1992; 120: 394-8.
11. lUyakim S, Lercr I, Zlotogora J, Svigi M, Gelman-Kohan Z, Merin S, Abeliovich D. Neurofibromatosis type I (Nl'l) in Israeli families: linkage analysis as a diagnostic tool. Am J Med Genet 1994; 53: 325-34.