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

Abstract

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]

Keywords

• Familial Mediterranean fever
• neurofibromatosis type 1
• coexistence