[Sturge--Weber-Klippel--Trenaunay syndrome (case report)]

Abstract

Introduction: Sturge-Weber syndrome is characterized by capillary malformations in the face, associated with leptomeningeal and choroidal venous malformations. Klippel-Trenaunay syndrome consists of the triad: capillary malformation of one leg, ipsilateral hypertrophy and varicose veins.

Observation: We report the case of a 23-year-old male patient who presented a complex congenital neurocutaneous syndrome with vascular malformations involving the brain, face and limbs and associated with epilepsia and leptomeningeal calcifications. The patient fulfilled the diagnostic criteria of both vascular phacomatosis syndromes.

Discussion and conclusion: Similar descriptions of dual or overlapping syndromes have been published. Many show that there is no clear distinction between Klippel-Trenaunay syndrome and Sturge-Weber syndrome. There is a clinical and biological overlap. The complexity of the disease phenotypes shows that a classification based on an eponymous category does not enable resolution of the nosological problems. Some authors suggest that these vascular malformations are best described in anatomical/histological or functional terms. We report a new observation that illustrates these difficulties.