Diazoxide use for neonatal hyperinsulinaemic hypoglycaemia in a low-resource setting: A Case Report

A Pragmatic Approach to Superwarfarin Intoxication in a Resource Constraint Setting; a Case Report

Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia

Hyperinsulinaemic hypoglycaemia (HH), which causes persistent neonatal hypoglycaemia, can result in neurological damage and it's management is challenging. Diazoxide is the first-line treatment, albeit not all patients will fully respond to it, as episodes of hypoglycaemia may persist and it entails unpleasant adverse effects. Sirolimus, an mTOR inhibitor, has reportedly been successful in trea...

A case of partial trisomy 13 presenting with hyperinsulinaemic hypoglycaemia.

We report on a newborn baby with partial trisomy 13 who presented with multiple dysmorphic features and hyperinsulinaemic hypoglycaemia. Cytogenetic study on peripheral blood lymphocytes showed 47,XY,+mar in all cells analysed; fluorescent in situ hybridisation showed that the marker was solely derived from chromosome 13. The final karyotype was 47,XY,+del(13)(q14q32). Milk formula through a na...

Neonatal Hyperekplexia: A Case Report

Hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. The disorder is occasionally associated with generalized muscular rigidity and has the clinical hallmark of positive nose tapping test.The disease is inherited in an autosomal dominant fashion.  Recessively inherited and sporadic forms of...

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 ...