ESPE Abstracts

Introduction: IPEX syndrome is a syndrome characterized by the following triad: immune dysregulation, polyendocrinopathy and X-linked enteropathy. It is produced by a variant in the FOXP3 gene. It is a rare disease with poor prognosis.Clinical case: We are reporting the case of a boy, 2nd child of non-consanguineous parents, normal pregnancy. Born at 39 weeks of gestational age, birth weight 2985 grams and length 49 cent...

Introduction: Hypoglycemia due to Congenital hyperinsulinism is a phenotypically heterogeneous disease. Depending on the cause it is most frequently seen in the neonatal period but it can present later in life, with risk of neurological complications in the event of late diagnoses.Clinical Case: Patient with a normal perinatal history, born at 40 weeks, weight 3600 grams and 50.5 centimeters of length. Because caf&eacute...