63. Pulmonary atresia with intact ventricular septum, associated with intracranial calcifications and left parietal hemangioma (Sturge–Weber Syndrome)

Abstract

Neurocutaneous disorders are characterized by skin lesions (port wine stain, hypopigmented patches) associated with intracranial features (ipsilateral leptomeningeal angiomas, intracranial calcifications and subsequent seizures). Some of these patients will also have opthalmological findings.These disorders are occasionally accompanied by congenital heart disease. Example: PHACE syndrome which is associated with aortic coarctation. On the contrary, Sturge–Weber syndrome, apart from one single case report, is usually not described with congenital heart disease. In the mentioned case report, 13 year old female had along with this syndrome, pulmonary atresia with ventricular septal defect. As the author of this case report questioned whether this might be a new association, we would like to report our patient. This is a 14 months old boy with pulmonary atresia/intact ventricular septum along with intracranial calcification, seizures along with strabismus and tunnel vision. Clinical findings were similar to Sturge–Weber syndrome, though cutaneous features were not present. Brain CT angio with contrast was diagnostic for Sturge–Weber and showed calcifications as well as left parietal hemangioma. As far as we know, this specific association has never been reported before and might be a new constellation as suggested by Huseyin Tan et al. (2003).