ABCC8-Related Hyperinsulinemic Hypoglycemia With Neonatal Cholestasis: A Case Report
Keywords:
hypoglycemia, congenital hyperinsulinism, ABCC8 mutation, neonatal cholestasis, and familial hyperinsulinismAbstract
Background: Neonatal cholestasis and familial hyperinsulinemic hypoglycemia (FHH) are rare but life-threatening illnesses that occur in newborns. While FHH is typified by hyperinsulinemia, often initiated by mutations of the ABCC8 gene, cholestasis involves defective bile drainage and jaundice. It is extremely rare for both diseases to coexist simultaneously, making diagnosis and treatment extremely challenging.
Case Report: A 2-month-old infant presented with recurrent hypoglycemia, dark-colored urine, and prolonged jaundice. The laboratory tests revealed direct hyperbilirubinemia, increased liver enzymes, and low glucose levels. A heterozygous mutation in the ABCC8 gene was identified through genetic testing. Upon initiation of diazoxide treatment, it failed. Octreotide and cornstarch supplementation were then introduced, which successfully maintained blood glucose levels. Fat-soluble vitamins and ursodeoxycholic acid were also administered as supportive management for cholestasis. Abdominal imaging ruled out biliary obstruction, while a urinary tract infection was diagnosed and treated. Despite continued cholestasis during follow-up, the patient showed improvement due to multidisciplinary care.
Conclusion: This case presents a unique and intricate of a newborn with concurrent neonatal cholestasis and familial hyperinsulinemic hypoglycemia due to an ABCC8 gene mutation. It’s a delicate balance that needs close testing, and you need to monitor and treat both low blood sugars and jaundice early to prevent significant long-term problems. The child was then effectively treated with octreotide and corn starch for blood sugar management and supportive therapy for cholestasis, which led to better outcomes in difficult cases.
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