Practical management of hyperinsulinism in infancy

Abstract

Hyperinsulinism in infancy is one of the most diYcult problems to manage in contemporary paediatric endocrinology. Although the diagnosis can usually be achieved without diYculty, 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 oVers 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. (Arch Dis Child Fetal Neonatal Ed 2000;82:F98-F107)

Long-term follow-up of 114 patients with congenital hyperinsulinism

“…Whereas germline mutations affecting all pancreatic b-cells result in so called 'diffuse' disease, somatic recessive disorder is caused by loss of maternal alleles of the imprinted region 11p15 in pancreatic lesions with 'focal' adenomatous hyperplasia, and usually a germline mutation on the paternal allele. However, management of patients with CHI still mainly depends on clinical parameters (4,5). Results from mutational analyses are usually not available when important clinical decisions regarding conservative or surgical treatment have to be made, especially in patients nonresponding to diazoxide.…”

Subtotal Pancreatectomy for Congenital Hyperinsulinism: Our Experience and Review of Literature

“…In infants, the estimated annual incidence is 1 in 50,000 births for the sporadic form but may be as high as 1 in 2,500 births in societies with high rates of consanguinity, especially in the Arabian Peninsula [5,8,9]. The most common age for presentation is the neonate and infant.…”

“…Presenting features include lethargy, apnea, poor feeding, and hunger seizures. Tremors, cyanosis, hypotonia, and hypothermia may also be present [1,5,[7][8][9]. Generalized tonic clonic seizures are seen in half of the cases [1,10].…”

“…Medical management deals with maintenance of euglycemia and consists of dietetic measures, parenteral nutrition, diazoxide, glucagon, calcium channel blockers (nifedepine), and octreotide [1,5,8]. In recent times, cases treated with long-term administration (9 months to 5 years) of octreotide and glucagon (up to 4 years) have been reported, although long-term results are awaited [13,14].…”

“…The indications for surgical intervention include poor compliance or failure of medical management and presence of focal lesion amenable to treatment [1,5,8,15]. In our series, all patients were started on medical management with a combination of drugs, but normoglycemia could not be maintained on drugs and diet alone, hence surgical intervention had to be considered.…”