ESPE Abstracts

Background: Congenital hyperinsulinism (HI) results in hyperinsulinemic hypoglycaemia in infants; a significant risk factor for brain injury due to neuroglycopenia and the suppression of alternative neuroprotective mechanisms such as ketogenesis. Neuronal damage can occur in both transient and persistent HI, with worse neurodevelopmental outcomes reported in those who receive a delayed diagnosis. There is currently no method for screening for HI and neuronal d...

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...