Sturge Weber Syndrome (SWS): A case report in an infant

Abstract

Introduction: Sturge Weber Syndrome (SWS), known as encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder and is having a prevalence of 1/20-50,000, live births. The syndrome consists of leptomeningeal angiomas and the angiomas of the face, characteristically in the ophthalmic and maxillary divisions of the trigeminal nerve. The neurological presentations include fits, deficits in cognition, glaucoma, and visual field abnormalities. The overgrowth of the soft tissues and extracranial angiomas can also occur in SWS. Case presentation: We are presenting a rare case of Sturge Weber Syndrome in an infant who presented at an early stage of this disorder. The index case presented to us with a large port-wine stain and right-sided focal fits. The CT scan brain showed subtle gyriform tram-track calcification of the left cerebral cortex and the left-sided cerebral atrophy. Ophthalmological examination showed glaucoma of the left eye. The clinical and radiological criteria were used to make the final diagnosis of SWS. Conclusion: The case is being reported in order to increase awareness among medical professionals.

Keywords

• Sturge Weber Syndrome (SWS), Port Wine Stain (PWS), Nevi flammeus, Neurocutaneous Syndromes, Phakomatosis, Angiomatosis.