Background: Congenital hyperinsulinism (CHI) is one of the commonest causes of recurrent hypoglycaemia due to excess production of insulin in infancy and results in neurological impairment in a third to a half of patients. The treatment of CHI is often complex and complicated by side effects; the medium-term effects of such treatment are not known.
Aim: To describe five year clinical outcomes in a cohort of infants with CHI.
Methods: Data from 37 infants (26 males) diagnosed and treated for CHI in 2011- 2012 at a single centre were reviewed. Five year outcomes included auxology, feeding, treatment and neurodevelopment.
Results: Small for gestational age was a common diagnostic association with birth weight<2 SDS. CHI was transient in 32 (86%) patients with the rest requiring persistent treatment. At one year, 20 (54%) patients treated with diazoxide reduced and stopped treatment. Five patients underwent 18-fluoro-DOPA PET-CT scanning which identified focal CHI, treated by focal lesionectomy in one patient only. Two patients required subtotal pancreatectomy, while the majority were successfully managed by medical therapy. Auxology parameters normalised by age one year, with height and weight SDS <−2.0 SDS in only at 8% and 21% respectively. In this cohort, only 4 (11%) patients had abnormal feeding which required either feeding through nasogastric or gastrostomy tubes. However feeding remained problematic in 3 patients as late as the 5 year review. Neurodevelopmental concerns (speech delay/cognitive dysfunction) were present in 9 out of 32 patients (28%) examined.
Conclusion: The majority of patients in a CHI cohort were born small for gestational age, responded to medical therapy, improved growth and had disease resolution in clinical review. Neurodevelopment was abnormal in a third of patients.
07 - 09 Nov 2018
British Society for Paediatric Endocrinology and Diabetes