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a The London Centre
for Paediatric Endocrinology and Metabolism, Great Ormond Street
Hospital for Children NHS Trust, London WC1N 3JH and the Institute
of Child Health, University College, London WC1N 1EH, UK, b The Institute of Molecular Physiology and
Department of Biomedical Science, University of Sheffield, Sheffield
S10 2TN, UK, c The Metabolic
Unit of Pediatrics and Departments of Radiology and Surgery, Hospital
Necker Enfants Malades, 75015 Paris, France, d Hospital
for Children and Adolescents and the Hartman Institute Transplantation
Laboratory, 000140 University of Helsinki, Finland, e The National Centre for Inherited Metabolic
Disorders, The Children's Hospital, Temple Street, Dublin 1, Ireland, f On behalf of the European
Network for Research into Hyperinsulinism (ENRHI)
Correspondence to: Professor A Aynsley-Green, The Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
Hyperinsulinism in infancy is one of the most difficult
problems to manage in contemporary paediatric endocrinology. Although the diagnosis can usually be achieved without difficulty, it presents the paediatrician with formidable day to day management problems. Despite recent advances in understanding the pathophysiology of hyperinsulinism, the neurological outcome remains poor, and there is
often a choice of unsatisfactory treatments, with life long sequelae
for the child and his or her family. This paper presents a state of the
art overview on management derived from a consensus workshop held by
the European network for research into hyperinsulinism (ENRHI). The
consensus is presented as an educational aid for paediatricians and
children's nurses. It offers a practical guide to management based on
the most up to date knowledge. It presents a proposed management
cascade and focuses on the clinical recognition of the disease, the
immediate steps that should be taken to stabilise the infant during
diagnostic investigations, and the principles of definitive treatment.
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