Author/Authors
İncecik, Faruk Cukurova University - Faculty of Medicine - Department of Pediatric Neurology, Turkey , Hergüner, M. Özlem Cukurova University - Faculty of Medicine - Department of Pediatric Neurology, Turkey , Besen, Şeyda Cukurova University - Faculty of Medicine - Department of Pediatric Neurology, Turkey , Haytoğlu, Zeliha Uçar Cukurova University - Faculty of Medicine - Department of Pediatric Neurology, Turkey , Altunbaşak, Şakir Cukurova University - Faculty of Medicine - Department of Pediatric Neurology, Turkey , Yılmaz, Mustafa Cukurova University - Faculty of Medicine - Department of Pediatric Immunology, Turkey
Title Of Article
Coexistence of Two Rare Genetic Disorders: Familial Mediterranean Fever and Neurofibromatosis Type 1 in a Child
شماره ركورد
24014
Abstract
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.
From Page
75
NaturalLanguageKeyword
Familial Mediterranean fever , neurofibromatosis type 1 , coexistence
JournalTitle
Cukurova Medical Journal
To Page
78
JournalTitle
Cukurova Medical Journal
Link To Document