138 OUTCOME OF CHILDHOOD HYPERINSULINISM

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HYPERINSULINISM Genetics of neonatal hyperinsulinism

Congenital hyperinsulinism (HI) is a clinically and genetically heterogeneous entity. The clinical heterogeneity is manifested by severity ranging from extremely severe, life threatening disease to very mild clinical symptoms, which may even be diYcult to identify. Furthermore, clinical responsiveness to medical and surgical management is extremely variable. Recent discoveries have begun to cla...

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Long-term outcome of a child with hyperinsulinism- hyperammonaemia syndrome

Methods A male infant was born at 38 gestational weeks with birth weight of 3.605 kg. He presented with convulsion at 28 days of life. Physical examination was unremarkable. He was initially treated as meningoencephalitis. CT brain was unremarkable. Bacterial and viral cultures were negative. Plasma glucose upon admission was 1.2 mmol/l with negative urine ketone. Glucose infusion was high up t...

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Short term outcome of congenital hyperinsulinism: case series

Results Five infants were reported. Hypoglycaemic seizure was the commonest presenting feature. All had detectable insulin level (>5 mU/l) during hypoglycaemic episodes and high glucose requirement (>10 mg/kg/min). Three patients were found to have genetic mutation associated with CH. Patient 1 had hyperammonaemia hyperinsulinism syndrome and corresponded missense mutation of GLUD1 gene. For pa...

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HYPERINSULINISM Practical management of hyperinsulinism in infancy

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 ...

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Outcome in Childhood Stroke.

Contrary to commonly held views, children do not recover better than adults after a stroke. The lifelong individual, family, and societal burden of stroke is likely to be greater than in adults because infants and children surviving stroke face many more years living with disability. The key difference between children and adults is that childhood stroke (occurring during the perinatal period a...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1985

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-198506000-00158