Chi-Feng Yena, Chi-Yu Huanga, b, Chon-In Chana, Chiung-Hsing Hsua, Nien-Lu Wangc, Tao-Yeuan Wangd, Chiung-Ling Line, Wei-Hsin Tinga, b
a Department of Pediatrics, MacKay Children Hospital, Taipei, Taiwan
b MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan
c Departments of Pediatric Surgery, MacKay Memorial Hospital, Taipei, Taiwan
d Department of Pathology, MacKay Memorial Hospital, Taipei, Taiwan
e Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan
Open Access funded by Buddhist Compassion Relief Tzu Chi Foundation
Abstract
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns and infants. CHI is characterized by unregulated secretion of insulin from pancreatic β cells. Here, we reported the case of a large-for-gestational-age, full-term newborn that suffered from CHI and developed severe and persistent hypoglycemia at an early stage of life. The infant was nearly unresponsive to medical treatment, which included continuous intravenous glucagon infusion, oral diazoxide, and nifedipine. After medical treatment had failed, an 18-fluoro L-3,4-dihydroxyphenylalanine positron emission tomography scan of the patient showed a focal lesion at the neck of the pancreas. The patient received subtotal pancreatectomy, and shortly after the procedure, the patient's blood sugar returned to the normal range. The patient was confirmed to have a novel heterozygous mutation at position c.2475+1G>A of the ABCC8 gene. This is the first report of a focal form of CHI in a patient in Taiwan, which had preoperatively been confirmed using 18-fluoro L-3,4-dihydroxyphenylalanine positron emission tomography.
Keywords
18-fluoro L-3,4-dihydroxyphenylalanine positron emission tomography; ABCC8; Adenosine triphosphate-sensitive potassium Channel; Congenital hyperinsulinism; Sulfonylurea receptor 1
