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

• Main Authors: Faruk incecik, Ozlem M. Herguner, Seyda Besen, Zeliha Ucar Haytoglu, Mustafa Yilmaz, sakir Altunbasak
• Format: Article
• Language: English
• Published: Cukurova University 2015-03-01
• Series: Çukurova Üniversitesi Tıp Fakültesi Dergisi
• Subjects: Familial Mediterranean fever; neurofibromatosis type 1; coexistence
• Online Access: http://www.scopemed.org/fulltextpdf.php?mno=184614
• ISSN: 0250-5150

Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis, pleuritis and arthritis. Caf and eacute;-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. [Cukurova Med J 2015; 40(Suppl 1): 75-78]