A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup

Persistent neonatal hypoglycaemia due to glucagon deficiency.

In a newborn baby, suffering from persistent severe hypoglycaemia with convulsions glucagon deficiency was shown. Treatment with zinc-protamine-glucagon injection twice daily resulted in normal blood glucose levels. Motor development is delayed.

A rare cause of neonatal persistent jaundice.

Oliveira GN, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-223306 Description A 22-year-old gravida 2, para 1 (G2P1) woman with immunoglobulin anti-D prophylaxis, insulin-treated gestational diabetes and first-trimester cytomegalovirus (CMV) infection vaginally delivered a 39-week boy weighing 3720 g (90th centile) and with Apgar scores of 8 and 10 at 1 and 5 min. Prenatal ultrasonographic ass...

Neonatal hypoglycaemia--a critical reappraisal.

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...

Crouzon’s Syndrome: A Rare Genetic Disorder

Crouzon's syndrome, also known as brachial arch syndrome, is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon's syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the b...