Encephalotrigeminal angiomatosis: A review with emphasis on head and neck manifestations

Abstract

Encephalotrigeminal angiomatosis, also known as Sturge-Weber syndrome or Sturge- Weber-Dimitri disease, is a sporadic congenital neurocutaneous syndrome characterized by angiomas of the face, eyes, and meninges. The typical clinical findings include seiz- ures, a port-wine facial nevus, hemiparesis, and developmental delay. The classic intracra- nial imaging features of Sturge-Weber syndrome include cerebral hemispheric atrophy, hypervascularity and/or calcification of the cortex, and ipsilateral choroid plexus enlarge- ment. Extracranial findings primarily include the vascular abnormalities of the ocular and facial soft tissues as well as hypertrophy of the calvarial and maxillofacial osseous struc- tures. Additionally, we report involvement of the extraocular muscles, salivary glands, and lacrimal glands, findings that have not been well described in the literature. While a developmental venous pathology underlying Sturge-Weber syndrome has been proposed resulting in many of the findings, the mechanism behind the facial soft-tissue abnormalities and the clinical sequelae associated with these glandular abnormalities is still uncertain. lacrimal glands, findings that have not been well described in the literature. While a de- velopmental venous pathology underlying Sturge-Weber syndrome has been proposed resulting in many of the findings, the mechanism behind the facial soft-tissue abnormal- ities and the clinical sequelae associated with these glandular abnormalities is still uncertain.