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

Murat Terzi; Duran Yazıcı; Emine Sabancılar; Musa Onar

Murat Terzi¹, Duran Yazıcı¹, Emine Sabancılar², Musa Onar¹

¹Department Of Neurology, 19 Mayıs University, Samsun, Turkey
²Department Of Dermatology, 19 Mayıs University, Samsun, Turkey

Keywords: Sneddon syndrome, stroke.

Abstract

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 ambiguous 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.