Delayed treatment of new-borns with rare condition linked to permanent brain damage

Early diagnosis and individualised management of a rare and potentially life-threatening disease of new-born babies are essential, according to researchers from The University of Manchester.

The devastating effects of a rare condition affecting new-born babies will be far worse if diagnosis and treatment are delayed.

Up to half of all babies born with congenital hyperinsulinism (CHI) - a disease that causes extremely low blood sugar - suffer from life-long disability.

But with more prompt detection and individualised management, patient outcomes are much more favourable, report the researchers in a new review published in Diabetic Medicine.

CHI - also coined the clinical opposite of diabetes - is the most common cause of persistently low blood sugar (hypoglycaemia) in early childhood.

Although generally rare, affecting just 1 in 50,000 children in the UK, CHI can be as common as cystic fibrosis (1 in 2,500) in some countries such as Saudi Arabia.

The research team from Manchester reviewed current therapies and outcomes of children and young adults with hypoglycaemia brought about by CHI.

According to the scientists, a hypoglycaemic episode - when blood sugar (glucose) concentration dips below 3.0 mmol/L - is harmful for the survival of nerve cells.

Treatment typically aims to make sure blood glucose does not drop lower than 3.3 to 3.8 mmol/L.

“Symptoms of low blood glucose in babies are very distressing. Babies are floppy, don’t feed very well and have a pale or bluish skin colour. It is really important that hypoglycaemia is recognised by parents and clinicians, and that it is treated quickly to prevent brain injury,” explained Doctor Karen Cosgrove, from The University of Manchester, who was involved in the study.

Scientists now understand that there is a critical window after birth in which an adequate energy supply is required for the correct development of the brain.

Providing early and individualised medical treatment for these babies is very important if we are to safeguard their health and improve their quality of life in the long-term
Dr Karen Cosgrove

And that explains why new-borns are more prone to suffering from the life-long effects of low blood glucose than adults.

“Our initial data suggest that with earlier referral, the frequency of cases with adverse neurological development is reducing” explains Professor Mark Dunne from The University of Manchester and lead author on the study.

In healthy people, insulin brings down blood glucose when its concentration rises.

When an infant with CHI experiences a hypo - a hypoglycaemic episode - it is a result of their bodies releasing too much insulin.

This is unlike diabetes, where a hypo often occurs due to a mismatch between the patient’s glucose concentration and their medication.

Any form of hypo can be dangerous as glucose fuels vital organs in the body, especially the brain.

Mild symptoms such as the infant appearing drowsy or struggling to keep warm can quickly escalate into life-threatening seizures or comas if left untreated.

Repeated episodes of hypoglycaemia without prompt treatment may permanently affect the learning, memory and behaviour of a child.

Dr Karen Cosgrove added: “Providing early and individualised medical treatment for these babies is very important if we are to safeguard their health and improve their quality of life in the long-term.”

This review paper is available here 

To find out more about the impact that CHI has on families around the UK, visit here  For more information on one of the specialised UK services that treats CHI patients, visit Norchi

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