Sturge-Weber Syndrome in a Neonate: A Case Report

Abstract

Sturge Weber syndrome (SWS) is a rare neurocutaneous disease which affects primarily the brain (pial angiomata), skin (facial port-wine-stained birthmark) and eyes (glaucoma). [1]. SWS is a congenital, nonfamilial and sporadic condition caused due to somatic mutation in GNAQ gene located on the long arm of chromosome 9. The incidence of SWS is 1 in every 20,000 to 50,000 live births.[2]. Symptoms of this syndrome are commonly detected in infancy. The most common somatic mutation is activating R183Q GNAQ somatic mutation, recent studies also show association of GNA11 and GNB2 somatic mutations related to SWS.[3] Sturge–Weber Syndrome (SWS) also known as encephalotrigeminal angiomatosis, is a rare congenital, non-hereditary disorder affecting the brain, orofacial, eyes and skin. Involvement is prominently unilateral but can also be bilateral. The pathogenesis of this syndrome is the incomplete regression of Embryonic blood vessels at the appropriate time of development. Therefore, it leads residual blood vessels to form angiomas on face, in ipsilateral side of meninges, and in the ipsilateral eye [1]. Port wine stains are the cutaneous angioma occurring along dermatomes which the ophthalmic and maxillary division of the trigeminal nerve, the fifth cranial nerve supplies. Recent investigations include Brain magnetic resonance imaging, and adjunctive electroencephalography. However, there are insufficient studies about the sensitivity, specificity, negative and positive predictive value of magnetic resonance imaging and electroencephalography and whether screening improves seizure recognition.[4]. There is lack of evidence that a presymptomatic Sturge-Weber syndrome diagnosis with magnetic resonance imaging has better neurodevelopmental outcomes. In Sturge-Weber syndrome, neurodevelopmental outcomes hugely vary upon prompt recognition of neurologic red flags as well as early seizure control.[5] In this case 26 Day old female baby was referred to our hospital i/v/o convulsion with sepsis with aspiration pneumonia and fever & was investigated for Sturge Weber syndrome. Keywords: Convulsion, Developmental delay, Dystrophic calcification, Facial Naevus, Port wine stain, Tram track appearance, Neurocutaneous marker, Seizures, Sturge-Weber Syndrome.