Cureus. 2025 May 6;17(5):e83555. doi: 10.7759/cureus.83555. eCollection 2025 May.
ABSTRACT
GATA6 variants are associated with pancreatic hypoplasia/aplasia, congenital heart disease, and biliary tract disorders. We report the case of a very low birth weight infant (VLBWI) with pancreatic aplasia and neonatal diabetes caused by a previously reported GATA6 variant. A male infant was born at 36 weeks and 0 days of gestation, weighing 1498 g, and presented with hyperglycemia on the first day of life. Continuous intravenous insulin was administered and discontinued after blood glucose levels normalized. Hyperglycemia recurred on day 7, necessitating insulin reinitiation with continuous glucose monitoring (CGM). Because of persistent glucose instability, the patient was transitioned to continuous subcutaneous insulin infusion (CSII). Improved glycemic control and reduced insulin dosage were achieved. Imaging failed to identify the pancreas, and serum trypsin levels were undetectable, confirming pancreatic aplasia. Poor weight gain owing to pancreatic exocrine insufficiency improved with pancreatic enzyme replacement; the resulting improvement in nutrient absorption necessitated an increase in insulin dosage. Genetic analysis revealed a heterozygous GATA6 splice-site variant (c.1136-2A>G). CGM + CSII prevented ketoacidosis and severe hypoglycemia.
PMID:40476119 | PMC:PMC12138728 | DOI:10.7759/cureus.83555
