ESPE Abstracts

Hyperinsulinemic hypoglycemia (HH) is common in newborns. If hypoglycemia occurs after the first 48 hours following birth, it may be a sign of an underlying condition. We present the case of a baby girl born at 38 weeks of pregnancy, with good adaptation to extrauterine life and blood glucose of 60 mg/dl in the first days of birth. Approximately 2 days after discharge, she was addressed at the emergency unit because of food refusal for approximately 30 hours, with a blood suga...

Introduction: Hypophosphatasia (HPP) is a rare, potentially fatal, either autosomal dominant or recessive genetic disorder caused by the loss of function of the tissue-non-specific isoenzyme of the serum alkaline phosphatase, due to pathogenic variants of the ALPL gene. The onset of the deleterious effects on bone metabolism is highly variable, ranging from mild cases with dental abnormalities to severe forms that can be life-threatening in infancy or early ch...