Rare Neonatal Diabetes Case In Kharghar: Premature Baby's Blood Sent To UK For Genetic Diagnosis

A premature baby boy born in Kharghar with persistently high blood sugar levels (300-400 mg/dL)—a rare condition in newborns- had shocked doctors. For accurate diagnosis, the new-borns blood samples were flown to the UK for undergoing genetic testing.

The  boy was diagnosed with neonatal diabetes . “ It is a rare condition that affects only 1 in 100,000 babies worldwide and calls for specialised treatment,” said Dr. Tanmesh Kumar Sahu, Consultant Neonatologist

 Born at just  30 weeks (when)  via emergency C-section, the baby was initially admitted to the Neonatal Intensive Care Unit (NICU) due to breathing difficulties. It was during routine monitoring that doctors noticed an unusual rise in blood sugar levels, unlike the low sugar (hypoglycemia) typically seen in infants of diabetic mothers.

It was also observed that despite regular insulin infusions, his blood sugar remained dangerously high, raising concerns of a rare metabolic disorder.

Sahu explained, “Persistent high blood sugar in newborns is highly unusual. We suspected neonatal diabetes caused by a genetic mutation affecting insulin production.”

Blood samples were sent to Exeter Medical School in the UK, which confirmed mutations in genes responsible for insulin regulation.  “ Once it was understood that mutation in genes was the cause it was decided that the baby was to be given an oral anti-diabetic drug instead of insulin,” said the doctor. 

The boy was given  Glibenclamide, which significantly improved sugar control.

Dr. Rachana Keshwani, Consultant Pediatric Endocrinologist, added, “Unlike typical diabetes, neonatal diabetes requires precise genetic diagnosis. Early intervention allowed us to provide targeted treatment.”

After 25 days in the NICU, the baby was discharged, growing well and achieving milestones. His parents were trained to monitor his sugar levels at home.

The baby’s mother expressed relief, saying, “Seeing such high sugar levels in a tiny baby was terrifying. But thanks to the doctors, he is now safe and healthy.”

This case highlights the importance of genetic testing in rare neonatal conditions and the advanced medical care available in Navi Mumbai.