Sneddon Syndrome with Factor V Leiden, Methylene Tetrahydrofolate Reductase and FMF Gene Mutations

Terzi M., Yazici D., Sabancilar E., Onar M.

TURKISH JOURNAL OF NEUROLOGY, cilt.16, sa.1, ss.47-50, 2010 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 1
  • Basım Tarihi: 2010
  • Dergi Adı: TURKISH JOURNAL OF NEUROLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.47-50
  • Anahtar Kelimeler: Sneddon syndrome, stroke
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Sneddon syndrome (SNS), characterized by livedo racemosa and stroke, is a rare disease, especially in young adults. Livedo racemosa are large lesions, widespread on the extremities and the body, that are violet-colored and have a good appearance and ambigu-ous limits. A 33-years-old female presented to our clinic for headache. She had a two-year history of blue-purple skin marks on her body and legs. The skin lesions were consistent with livedo racemosa. She had experienced right hemiparesis according to her medical history. Factor V Leiden (G1691A) mutation was heterozygote-positive. Methylenetetrahydrofolate reductase (MTHFR) C677T and FMF gene (MEFV) V726A mutations were determined. SNS is the cause of stroke, rarely seen in young adults. We considered this case to be of value since it is the first SNS case having factor V Leiden, MTHFR and MEFV mutations concomitantly.