Endocrine Abstracts

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.