Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2014) 36 P24 | DOI: 10.1530/endoabs.36.P24

BSPED2014 Poster Presentations (1) (88 abstracts)

Be wary of hyperglycaemia in newborn: a case of monogenic permanent neonatal diabetes

Mary Sumwanyanbe , Rasheed Oba , Kavita Thairan & Lamia Ibrahim


Diana Princess of Wales Hospital, Grimsby, UK.


A small for gestational age baby boy (weighing 2.3 kg) was delivered at term by emergency section for foetal bradycardia, to a 35-year-old mother with type 1 diabetes.

He was admitted with suspected sepsis because of maternal colonization with group B streptococcus. He had hyperglycaemia (6–12 mmol/l), initially attributed to sepsis and was treated as such. Hyperglycaemia persisted, despite treatment and being clinically well.

Further enquiry revealed that mother presented at 1 month of age, in coma in Malawi, when she was diagnosed to have ‘type 1 diabetes’. This left her with paraplegic cerebral palsy, now wheel chair bound.

Currently, mother’s diabetes is fairly well controlled on multiple daily dose insulin. Both parents are non-consanguineous of African origin.

Genetic testing for neonatal diabetes for baby and mother confirmed previously reported insulin gene (INS) missense mutation, p.L30P. This is predicted to be pathogenic and confirmed a diagnosis of permanent neonatal diabetes (PND).

Baby was started initially on long acting insulin and later continuous insulin pump, on a basal profile, and subsequently with insulin boluses for milk feeds.

Discussion: PND is a rare condition with estimated incidence of 100 000–500 000 live births. PND has been previously described in clinical arena of developmental delay, epilepsy (DEND syndrome). This will thus warrant a close monitoring of baby’s developmental milestones.

Conclusion: Persistent hyperglycaemia in the first 6 months of life should not be labelled as type 1 diabetes as the latter usually presents later than the first 6 months of life.

Genetic testing for monogenic diabetes is important in this group to identify the optimal treatment. No alteration in his mother’s insulin treatment is needed.

Volume 36

42nd Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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