Neonatal Cholestasis Associated With Transient Congenital Hyperinsulinism: A Case Report

Congenital hyperinsulinism (CHI) and neonatal cholestasis (NC) are occasionally observed in neonatal settings; however, the causes have not been identified despite thorough investigation. Surgical evaluation is essential for patients with cholestasis to rule out biliary atresia because timely surgical intervention is critical. Few case reports have described the co-occurrence of CHI and NC. Herein, we report a case of a boy born as one of dichorionic-diamniotic twins via planned cesarean delivery. Apparent ischemic events were not present, with Apgar scores of 8 and 9 at one and five minutes, respectively; however, the umbilical artery blood gas pH was 7.17. He experienced a hypoglycemic attack on day two and was diagnosed with CHI. The patient was put on diazoxide therapy, following which his blood glucose levels were stable without intravenous glucose infusion. However, cholestasis was observed from day 14. Workups did not indicate any specific clinical condition, and biliary atresia was ruled out on day 44 by cholangiography. He exhibited prolonged fasting hypoglycemia because of lipid malabsorption until he recovered from cholestasis. He was free of diazoxide at 16 months of age and subsequently acquired normal physical and mental development. This case highlights the potential co-occurrence of CHI and NC. The etiologies remain unidentified; however, both may have resulted from perinatal distress. Hypoglycemic episodes prior to the diagnosis of CHI may also trigger cholestasis. Transient CHI can be accompanied by benign NC, and such patients can experience persistent hypoglycemia and require nutritional management until the cholestasis is relieved.