ESPE Abstracts

Background: Congenital hyperinsulinism is genetic disorder characterized by dysregulation of insulin secretion and it is the most common cause of persistent hypoglycaemia in infancy. The incidence in individuals of northern European extraction is approximately 1:30,000 live births. Published data on the diagnosis and management of congenital hyperinsulinsim in resource limited setting is scarce.Objective and hypotheses: To describe the clinical presentat...

Background: Vitamin D deficiency is a common problem in paediatrics caused by a number of factors ranging from malnutrition, limited exposure to sunlight, chronic illness and chronic medications.Objective and hypotheses: We report on a rare case of Primary Intestinal Lymphangiectasia (PIL) presenting in a tertiary centre in Botswana with Vitamin D deficiency and failure to thrive.Method: A 2 m...

Background: Diabetes mellitus is not characteristic of Beckwith Wiedeman Syndrome (BWS). If anything, BWS is associated with hypoglycaemia secondary to hyperinsulinaemia. A case of permanent neonatal diabetes mellitus and BWS have never been reported from our setting.Objective and hypotheses: To report on a 17 years old boy with BWS diagnosed with permanent neonatal diabetes mellitus at 4 months of age and to determine the molecular genetics study which ...