Background: Congenital Hyperinsulinism (CHI) is the commonest cause of refractory hypoglycaemia in infants.
Objective and hypotheses: CHI is a rare disorder with varied clinical manifestations, genotype often with poor outcome. This study describes the clinical profile, molecular characterisation, response to therapy and short term outcome in children with CHI presenting to Paediatric Endocrinology Division, B.J. Wadia Hospital for Children, Mumbai.
Method: Records of 27 (15F) children with CHI diagnosed in last 10 years were studied. Historical, clinical, biochemical, hormonal and mutation details were analysed in two groups- Diazoxide Responsive (DR) and Diazoxide Unresponsive (DU). Syndromic and transient hyperinsulinism were excluded.
Results: The age at onset and age at presentation ranged from 1 to 240 days and 0.3 to 68 months respectively with 74% (20/27) diagnosed in neonatal period. The mean gestational age and birth weight was 37.3±0.99 weeks and 3240±695 gms respectively. 33.3% (9/27) were LGA. 29.6% (8/27) were born of consanguineous marriage. All presented with hypoglycaemic seizure. At diagnosis mean plasma glucose was 30±11.5 mg/dl with simultaneous serum insulin of 26.57±56.23 uIU/ml. 51.8% (14/27) had mutation analysis and 37% (10/27) were abnormal. 9/10 mutations were found in ABCC8 and 1 in KCNJ11 gene. Two novel mutations were found in this cohort. Interestingly 2/10 were infants of diabetic mother. 59.2% (16/27) were DR. Of 11 babies who were DU, 7 responded to octreotide with 6 of them receiving long acting octreotide (LAR). 4 underwent near total pancreatectomy. Duration of follow up ranged from 1 to 72 months. At the last follow up mean weight, height and head circumference SDS was −0.3±1.78, −0.31±2.17 and −2.46±2.12 respectively. 33.3% (9/27) were normal, 25.9% (7/27) had delayed development and 11% (3/27) had epilepsy. 2 children had died of infection.
Conclusion: Early diagnosis and treatment helps improve outcome. ABCC8 was commonest mutation seen. Newer drugs can prevent pancreatectomy and its morbidity.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology