Shprintzen-Goldberg syndrome presenting as generalised epilepsy in a child: A rare presentation

Abstract

The ShprintzenGoldberg syndrome (SGS) is a rare connective tissue disorder characterised by craniosynostosis, distinctive craniofacial features, skeletal abnormalities, marfanoid body habitus, neurological, cardiovascular and intellectual disability. We hereby present a case of a thirteen-year-old Indian child who presented to our clinic with generalised epilepsy since 4 years of age. Child also had intellectual disability, delayed developmental milestones, characteristics facial features, umbilical hernia. As there is paucity of literature showing generalised epilepsy as a part of this syndrome, this case promote to create a high degree of clinical suspicion to diagnose a case of Shprintzen-Goldgerg syndrome in patient of generalised epilepsy present with distinctive craniofacial features along with features of craniosynostosis and marfanoid habitus.