Neuroradiologic findings in a young patient with characteristics of Sturge-Weber syndrome and Klippel-Trenaunay syndrome

Abstract

The patient presented here has extensive hemangiomata plana, especially on the right forehead, right upper eyelid, and right leg, as well as right leg hypertrophy and macrocephaly. Cerebral magnetic resonance imaging (MRI) showed abnormalities in only one occipital lobe consisting of focal cortical atrophy, leptomeningeal enhancement, and ipsilateral choroid plexus enlargement. Mental and motor development is normal, and he has no seizures. The parents are consanguineous. Leg hypertrophy associated with ipsilateral cutaneous vascular malformations is suggestive of Klippel-Trenaunay syndrome. The patient's central nervous system abnormalities on MRI and the hemangiomata plana on the ipsilateral upper eyelid and forehead point to Sturge-Weber syndrome. We conclude that the patient has an overlap syndrome between Klippel-Trenaunay syndrome and Sturge-Weber syndrome.