ESPE Abstracts (2018) 89 P-P2-106

Congenital Hyperinsulinism: Clinical and Molecular Characteristics - Fluorine-18-L-Dihydroxyphenylalanine Positron Emission Tomography (F-DOPA PET) Scan Results - Treatment Responses and Short Term Outcomes of 5 Patients

Hande Turana, Aydilek Dagdeviren Cakira, Atilla Cayirb, Elisa De Francoc, Sian Ellardc, Kerim Sönmezoglud, Oya Ercana & Saadet Olcay Evliyaoglua


aIstanbul University Cerrahpaşa Medical Faculty, Department of Pediatric Endocrinology, Istanbul, Turkey; bErzurum Regional Training and Research Hospital, Department of Pediatric Endocrinology, Erzurum, Turkey; cInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; dIstanbul University Cerrahpaşa Medical Faculty, Department of Nuclear Medicine, Istanbul, Turkey


Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In this study, our aim was to emphasize the importance of genetic studies and 18f dopa pet scanning, and the management of 5 CHI patients with or without known genetics who underwent different treatment strategies.

Cases: Four cases were diagnosed in the first month of life, while one case was diagnosed at fourth months. All of the patients had presented with hypoglycemic seizures. There was a history of preterm delivery in 4 cases. Four patients were large for gestational age and one had a normal birth weight. Female/male ratio was 4:1. There were consanguineous marriages between parents in three cases. While one case responded to diazoxide, three cases needed additional therapy. In one case pancreatectomy was performed due to failure of medical therapy. Four cases were scanned with 18-f dopa pet CT. In 2 cases, lesions were interpreted as focal; increased uptakes were observed in the head and body of pancreas (table). While 3 cases showed normal motor mental development, severe motor mental retardation (MMR) was observed in one case due to hypoxic encepholophathic disease. One case diagnosed at the 4th month showed moderate MMR due to hypoglycemia. Genetic analyzes were performed in all cases. Mutations in ABCC8 genes were detected in 3 cases. In 2 cases no mutation was found in the studied genes.

Table 1
Case 1Case 2Case 3Case 4Case 5
AGE/gender1,46/F3,67/F2,25/F1,07/M0,45/F
GENETIC ANALYSISHeterozygous mutation in ABCC8 geneCompound heterozygote mutation in ABCC8 geneNo mutation detected No mutation detected mutation in ABCC8 gene
FDOPAPET/SCANNo lesion detectedNo screening was performedDiffuse uptakeIn the pancreas head increased uptake focal increased uptake image of 0.5 cm in the pancreas body
TREATMENTOctreotideOctreotide NifedipinOctreotide NifedipineDiazoxideNear total pancreatectomy

Conclusion: Hyperinsulinemic hypoglycemia in neonates and infants is a condition that should be urgently and effectively treated to prevent neurological compications. Molecular genetic tests and Fdopa pet scans in congenital hyperinsulinism are very valuable to decide on treatment choice and to predict the clinical follow-up.