PSUN280 A Rare Genetic Disorder With Recurrent Hypoglycemic Episodes and Ketonemia Requiring Multidisciplinary Team Management During Pregnancy

ABSTRACT: Abstract

Introduction

Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a multisystem human genomic imprinting disorder of chromosome 11p15.5. It is characterized by overgrowth and cancer susceptibility and is known to have a highly variable clinical spectrum. The main features include lateralized overgrowth and hypoglycemia due to prolonged hyperinsulinism. Most case reports on BWS are focused on the pediatric population with very scarce data in adults.

Clinical case

A 29-year-old, paralympic swimmer and genetically diagnosed female with BWS had recurrent episodes of hypoglycemia during her second pregnancy. She had a history of six previous first trimester miscarriages, anti-phospholipid syndrome, hypoglycaemic seizures, asthma, and migraines. Pre-pregnancy, she was inv

SUBMITTER:  

PROVIDER: S-EPMC9627651 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature