[Association of Klippel-Trenaunay and Sturge-Weber syndromes]

A woman aged 46 years, an epileptic, with no family history of hereditary disorders consulted a doctor in 1972 because of an ulcer on the right foot. She presented varices, lengthening of the right leg, and an angioma. The three components of the Klippel-Trenaunay syndrome were present. The angioma also involved the trunk, the right arm and the head where there was predilection for the trigeminal region. Radiograms of the cranium show a "pumice-stone" appearance of the dome and deformation of the sella turcica. The electroencephalogram showed slow waves appearing during hyperpnoea in the right temporo-rolandic region. These different elements made it possible to diagnose the Sturge-Weber syndrome. This association of the Klippel-Trenaunay and Sturge-Weber syndromes did not appear clinically to have been due to chance but appeared to be one disease akin to the phakomatoses. Thus the two syndromes that were associated can each be considered as phakomatosis.