IMPE Abstracts

A 37 wk of gestation newborn male from a mother with Gestational diabetes also IUGR, consanguineous parents, with persistent glucose levels around 425 mg/dl since his second postnatal day of life with Birth weight of 1640 grams (SD -4.4) and Birth length 41 centimeters (SD -4.6). A diagnosis of Neonatal Diabetes was made and initially he was treated with intravenous insulin to later be switched to SC insulin, basal-prandial therapy analogues (Lispro 0.5 IU if glucose >250 mg/dl and Determir 1 IU/daily, respectively) and continue breastfeeding and formula. During his first two months of life due to hypoglycemia it was decided to discontinue the long-acting insulin. Later, a continuous glucose monitoring (GCM) was used for 14 days, his Time in Range (TIR) for 7 days was 45%, Above the Range 49%, Below the Range 1% and HbA1c of 6.6%. At the age of 3 months, He developed hepatitis and Gastrointestinal infection and mild ketoacidosis and was admitted to the hospital and the GCM was discontinue. Genetic testing showed a homozygous mutation for FOXP3 gene (p. Tyr314Cys) probably pathogenic for IPEX syndrome (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome) and heterozygous mutation for KIRREL1 gene (p.Ser573Leu) probably related to nephrotic syndrome. After controlling the infection, he had and overall good metabolic control with prandial insulin schedule as follows Lispro 0.15 IU with glucose levels between 140-200 and 0.2 IU with glucose above 200 mg/dl and a bone marrow transplant was performed.