Endocrine Abstracts (2010) 24 OC2.3

The phenotype of late-presenting congenital hyperinsulinism

C Ilangaratne1, L Rigby1, M Skae1, S Flanagan2, S Ellard2, I Banerjee1, P Clayton3 & NORCHI Members1

1Royal Manchester Children’s Hospital, Manchester, UK; 2Royal Devon and Exeter NHS Trust, Exeter, UK; 3Endocrine Science Research Group, University of Manchester, Manchester, UK.

Background: Children with hypoglycaemia due to Congenital Hyperinsulinism (CHI) usually present in the neonatal period but late presentations also occur. The phenotype of late-presenting CHI has not been well described.

Aim and methods: We have reviewed the clinical course of children (n=22) presenting with CHI after 1 month of age in relation to mode of presentation, rapid KATP genetic mutation analysis, neurodevelopment, clinical progress and treatment at last follow-up.

Results: In this cohort of 22 children (14 males), the median (range) age at presentation was 0.7 (0.3 – 8.1) years with serum insulin levels of 22.0 (2.7 – 56.0) mU/l at the time of hypoglycaemia. Weight at presentation was variable at 0.8 (−2.8−+4.0) SDS; 7 children (31%) had developmental delay and 15 (77%) had seizures. Age at presentation was significantly later in those with developmental delay than in those with normal development [1.7 (0.6 – 8.1) v 0.6 (0.3 – 1.1) years, P=0.002]. Neonatal transient hypoglycaemia was present in 2 children. Five children (23%) had KATP mutations (4 ABCC8, 1 KCNJ11); 3 children had mutations in other genes (GLUD1, GCK and MEN1) and in 14 children (64%), no mutations were identified. All children received Diazoxide to treat hypoglycaemia; 12 (54%) were responsive to Diazoxide, of whom 3 underwent spontaneous remission. Seven children, who had either paternal heterozygous KATP mutations or no mutations, underwent 18-fluorodopa PET-CT scanning; of them, 6 children (85%) had focal lesions, all of whom underwent pancreatic surgery. On histology, 2 children had insulinomas, one with an MEN1 mutation and the other with a heterozygous ABCC8 mutation.

Conclusions: Children with late-presenting CHI often have developmental delay and seizures at presentation. A significant proportion of them have surgically resectable focal lesions, either focal CHI or insulinomas. It is important to recognize that CHI may present with hypoglycaemia in mid-childhood.

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