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


İNCECİK F. , HERGUNER M. , BESEN S., HAYTOGLU Z. U. , ALTUNBAŞAK Ş. , YILMAZ M.

CUKUROVA MEDICAL JOURNAL, vol.40, pp.75-78, 2015 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 40
  • Publication Date: 2015
  • Title of Journal : CUKUROVA MEDICAL JOURNAL
  • Page Numbers: pp.75-78

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis, pleuritis and arthritis. Cafe-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.