ESPE Abstracts

Backgorund: Neonatal diabetes is a rare genetic condition with multiple mechanisms, some of them diagnosed in molecular levels.Objectives: To present the incidence, genetics, clinical phenotype and treatment in permanent neonatal diabetes in Kosova.Methods: Patients with PNDM that were identified between 2007 and 2022 were clinically phenotyped and gene sequencing of ABCC8, KCNJ11 ...

Beckwith-Wiedemann syndrome is a congenital imprinting condition with a heterogenous clinical presentation of overgrowth and an increased childhood cancer risk. Hemangiomas are a rare presentation, while association with diaphragmatic eventration and congenital hypothyroidism was reported even more rarely. This case highlights the presence of some rare anomalies which may be associated with BWS.Case presentation: Personal and disease his...