Symptomatic epilepsy in patient with Klippel-Trénauney-Weber Syndrome. Case report and review of the literature

Aims: Klippel-Trénaunay-Weber Syndrome (KTWS) is a rare congenital phakomatosis characterised by a combination of vascular malformations of the skin, abnormalities of the venous and lymphatic systems, and limb enlargement due to bone and soft tissue hypertrophy. There are over 1500 described cases worldwide with a variable phenotype expression. In individuall cases cerebral vasular malformations could also be documented.

Methods: Here we present a case of a rare comorbidity of KTWS.

Results: A 12-years-old, mild kognitive impaired and macrosome girl with known KTWS without facial involvment presented in our centre for assessment and therapy optimising of an epilepsy. The semiology consisted of complex-focal psychomotoric features. The interictal EEGs showed continuous slowing over the left fronto-central region with interspersed sharp-slow-waves. The etiologic background lied in a vascular malformation in the left gyrus frontalis superior, which could be dokumented in MRI. The parents rejected our proposal for pre-surgical evaluation and surgical treatment of epilepsy. She is still under treatment with antiepileptic medication.

Conclusion: The involvement of the central nervous system is a rare comorbidity of the KTWS. Neuroimiging should be involved in the diagnostic work up of these patients.

Klippel-Trénaunay-Weber syndrome - cerebral vascular malformation - epilepsy - children