Beckwith-Wiedemann syndrome

Abstract

Beckwith-Wiedemann syndrome is a rare congenital syndrome, but one of the most prevalent among overgrowth syndromes. It is characterized by exomphalos, macroglossia and overgrowth (gigantism). It is a complex multigenic disorder caused by dysregulation of imprinted gene on chromosome 11p.15. Incidence of Beckwith-Wiedemann syndrome is not known in developing countries like Pakistan, because of paucity of case reports, variability in the syndrome presentation, financial constraints and lack of access to genetic and molecular studies. To the best of our knowledge, we are reporting first case of Beckwith -Wiedemann syndrome from our country. A newborn baby boy was presented in pediatric emergency department, with large protruding tongue, hemihypertropy of left side of body, polydactyly and undescended testis. A quick clinical diagnosis was made; severe hypoglycemia and early onset unconjugated hyperbilirubinemia were treated. We emphasize on prenatal diagnosis, it will allow multidisciplinary approach to address complications with which these patients born.