Şakir ALTUNBAŞAK, M Özlem HERGÜNER, Faruk İNCECİK, Şeyda BESEN, Zeliha UÇAR HAYTOĞLU, Mustafa YILMAZ

Coexistence of Two Rare Genetic Disorders: Familial Mediterranean Fever and Neurofibromatosis Type 1 in a Child

Ailevi Akdeniz Ateşi (FMF) nükseden ve kendini sınırlayan ateş, peritonit, plörit ve artrit atakları ile karakterize otozomal resesif geçişli polisistemik bir hastalıktır. Nörofibromatozis tip 1 (NF1) hastalığının karakteristik özellikleri arasında caféau lait lekeler, nörofibromlar, aksiller ve inguinal çillenme, Lisch nodülleri, sfenoid displazi gibi kemik lezyonları ve optik gliom yer alır. Bu makalede, FMF ve NF1'li 7 yaşındaki bir kız sunulmuştur. Hastanın bir yıldır, 2-3 ayda bir 2-3 gün süren ateş, karın ve eklem ağrılarına sahipti. Bunun dışında vücudunda café-au lait lekesi ve aksiller çillenme saptadık ve hastaya FMF ve NF1 tanısını koyduk.

İki Nadir Görülen Hastalığın Birlikteliği: Bir Çocukta Ailevi Akdeniz Ateşi ve Nörofibromatozis Tip 1

Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis, pleuritis and arthritis. Café-au lait macules, neurofibromas, axillary and inguinal freckling, Lisch nodules, bone lesions such as sphenoid dysplasia, and optic glioma are the characteristic features of neurofibromatosis type 1 (NF1) disease. In this case report, a 7 year-old girl with NF1 and FMF is presented. She had intermittent fever, abdominal and joint pain attacks lasting 2-3 days every two-three months since 1 year. We detected many cafe-au lait spots and axillary freckles on her body and diagnosed FMF and NF1.

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