Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome

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Long-term follow up of persistent hyperinsulinaemic hypoglycaemia of infancy.

Twenty six children with hypoglycaemia were diagnosed and followed between 1975 and 1995. Diagnosis was confirmed by a high insulin:glucose ratio, and low free fatty acid and 3-hydroxybutyrate on fasting. All patients were treated with diazoxide at a maximum dose of 20 mg/kg/day. Requirement of a higher dose was considered as a failure of medical treatment and an indication for surgery. Sixteen...

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Hyperinsulinaemic hypoglycaemia in preterm neonates.

Hyperinsulinism in infancy (HI) is an important cause of severe and recurrent hypoglycaemia in newborn infants. It usually appears in infants born at term, and only one case of its occurrence in a prematurely born infant has been reported as an incidental finding. This is a report of seven infants born at 31-36 weeks gestation who experienced severe persistent hyperinsulinism. Two infants were ...

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Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis.

The syndrome of persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) was described more than 40 years ago by Mc Quarrie. Despite the inordinate amount of interest in this syndrome, the pathogenesis of the disease has not yet been completely elucidated. For decades, the disease has been ascribed to nesidioblastosis. This term, first coined by Laidlaw, describes the persistence of a diVus...

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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guid...

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Hyperinsulinaemic hypoglycaemia in an infant with mosaic trisomy 13.

An infant with mosaic trisomy 13, who was small for gestational age, became severely hypoglycaemic. For the first 19 days of life, glucose requirements to maintain normoglycaemia were high (up to 21.7 mg/kg/min) and at the same time the infant had high plasma insulin levels and low glucose insulin ratios. Treatment with hydrocortisone and susphrine was of questionable benefit. Hyperinsulinism a...

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ژورنال

عنوان ژورنال: European Journal of Endocrinology

سال: 2019

ISSN: 0804-4643,1479-683X

DOI: 10.1530/eje-19-0119