ESPE Abstracts (2014) 82 P-D-2-3-481

Presentation, Clinical and Genetic Outcomes in a Series of Infants With Congenital Hyperinsulinism

Aoife Carrolla, Brian Gibneya, Ciara McDonnella, Sinead Moloneya, Ardeshir Monavarib & Nuala Murphya

aDepartment of Endocrinology, Children’s University Hospital, Temple St, Dublin, Ireland; bNational Centre for Inherited Metabolic Disorders, Children’s University Hospital, Temple St, Dublin, Ireland

Background: Congenital hyperinsulinism (CHI) is a rare condition but a significant cause of recurrent hypoglycaemia in infancy and childhood. Prompt recognition and appropriate management is important to avoid long-term neurological sequelae.

Objective and hypotheses: To describe the presentation, clinical and genetic outcomes in a series of infants with CHI.

Method: Retrospective case series of 35 patients diagnosed with CHI between 1992 and 2014 at The Children’s University Hospital, Temple Street, Dublin.

Results: Twenty of 35 patients were male. Median age at presentation was day 2 of life (range: day 1–21 months) with 19 patients (54%) presenting in the first 48 h of life. Seizure was the most common presentation, occurring in 13 patients (37%). Mean glucose requirements to maintain euglycaemia were 14.5 mg/kg per min (range: 7.5–23 mg/kg per min). First line treatment with diazoxide was commenced in all patients of whom 22 (63%) responded. Of those who did not respond to diazoxide, three were stabilized on octreotide and ten required surgery. Genetic testing was performed on 31 patients (89%). A genetic diagnosis was possible in 18 patients (58%); 13 had a mutation(s) in the ABCC8, three had mutations in the HNF4A gene, one mutation in KCNJ11 gene, and one had a novel mutation in the HADH gene. Twenty-seven patients (77%) had a normal neurological outcome. Of the remaining eight patients, four have severe developmental delay, one of whom died of respiratory complications, one has moderate impairment, and the remaining three patients have mild dyspraxia and speech delay. Oral aversion occurred in 14/35 (40%) of children but resolved by age 3 years in 11 of 14 (78%).

Conclusion: No clinical parameter significantly predicted developmental outcome. Advances in both molecular genetics and 18F-L-DOPA PET scanning have revolutionised management of children diagnosed with CHI but early recognition and prompt appropriate treatment for hypoglycaemia are critical to reducing morbidity and mortality.

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