ESPE Abstracts

Introduction: Leprechaunism syndrome is a very rare genetic autosomal recessive disorder (Prevalence 1 in a million births), and is caused by mutations in the insulin receptor gene.Case presentation: We report the case of a 5-month-old Algerian female, born to consanguineous parents. Birth was via caesarean section at 37 weeks gestation due to severe intrauterine growth restriction: birth weight 1800 g (< - 3.66SD), h...

Case presentation: We report the case of Imad, a 2-year- old Algerian boy referred with a 2-month history of polyuria and polydipsia. Diabetes insipidus was diagnosed by confirming hypernatremia with hyperosmolar serum and inappropriately dilute urine. His polyuria and polydipsia improved dramatically using the oral vasopressin analog. The child had no clinical signs of underlying disease, serum tumor markers were not detected and a skeletal survey suggested n...