Nörofibromatozis
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Dosyalar
Tarih
2002
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
İnönü Üniversitesi Tıp Fakültesi Dergisi
Erişim Hakkı
Attribution 3.0 United States
info:eu-repo/semantics/openAccess
info:eu-repo/semantics/openAccess
Özet
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 (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.
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.
Açıklama
İnönü Üniversitesi Tıp Fakültesi Dergisi
9(4) 273-276 (2002)
Anahtar Kelimeler
Nörofibromatozis (NF), Neurofibromatosis (NF)
Kaynak
İnönü Üniversitesi Tıp Fakültesi Dergisi
WoS Q Değeri
Scopus Q Değeri
Cilt
9
Sayı
4
Künye
Özcan, Hamdi ; Kandı, Başak ; Doğan, Gürsoy ;Hazneci, Ersoy ;İnönü Üniversitesi Tıp Fakültesi Dergisi 9(4) 273-276 (2002)
