Andrea Hlubeková, Miloslav Dvorák, Ladislav Gurčík, Vlastimil Horný, Patrícia Frimmelová, Anna Tomášová, Ľubomír Gernáth
Klippel-Feil syndrome (KFS) is a hereditary disease characterized by osseous and visceral abnormalities and affected nervous system and quite frequent in neurological practice. The disease is underdiagnosed because of its incomplete penetration and variable expression. A case report of a patient with KFS is presented with coincidence with hematological abnormalities that induced thrombofilia resulted in massive thrombosis of cerebral venous sinuses in relative good clinical condition of the patient. Review of topic literature is presented in the discussion in term of clinical signs and symptoms, diagnosis and treatment.