Coexistence Of Two Rare Genetic Disorders: Familial Mediterranean Fever And Neurofibromatosis Type 1 In A Child

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 dy...

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Bibliographic Details
Published in:	Cukurova Medical Journal Vol. 40; no. 1
Main Authors:	Yılmaz,Mustafa Volkan, Hergüner,Mihriban Özlem, Altunbaşak,Şakir, İncecik,Faruk, Beşen,Şeyda, Haytoğlu,Zeliha Uçar
Format:	Journal Article
Language:	English
Published:	Çukurova Üniversitesi Tıp Fakültesi 01-01-2015
Subjects:	Tıp Adana Türkiye coexistence Ailevi Akdeniz Ateşi nörofibromatozis tip 1 neurofibromatosis type 1 Familial Mediterranean fever bir arada olma
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Summary:	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.
ISSN:	2602-3032 2602-3040