Clinical Characteristics and Neurodevelopmental Outcome in Children with Congenital Hyperinsulinism in Resource Limited Settings

Authors

Abstract

Objective: This study was conducted to describe the clinical characteristics of persistent Congenital Hyperinsulinism (CHI) and evaluate neurodevelopmental outcome and its risk factors in a cohort of Pakistani children.

Methods

This was a cohort observational analytical study carried out at the Pediatric Endocrinology Department, The University of Child Health Sciences, The Children's Hospital Lahore. Total 29 patients fulfilling the inclusion criteria were included in the study. Biochemical profile was recorded including serum insulin levels, C-peptide level, blood or urinary ketones. All children had their first assessment at the time of enrolment in study. Further follow up and neurodevelopment assessment was done at 6 months and one year after the first visit. Neurological assessment was done by the neurologist using TINE score (Touwen Infant Neurological Examination) for children who are younger than 2 years and by Hadders Algra score for older children.

Results

  Among children 65.6% presented with early onset of disease (<30 days) and with severe disease, 58.6% children were treated with octreotide while the remaining 34.48% children were treated with oral diazoxide. None of the children underwent surgical treatment. Abnormal neurological examination was noted in 55.17% children, 16.67% children had abnormal EEG findings, 33.3% children echocardiography findings were abnormal, as suffering from congenital heart disease, and 18.18% of children MRI findings were abnormal. Children with abnormal neurological assessment had severe disease, delayed referral to tertiary care hospital, longer admission duration, high frequency of worse symptoms, high frequency of abnormal EEG and MRI findings.

Conclusion

 The prompt management of newborn hypoglycemia is essential for the fruitful outcome. Improving healthcare personnel knowledge and comprehension care of newborn hypoglycemia, implementing standardized neurodevelopmental testing, and determining causal relationship of congenital heart disease in CHI is necessary.

Keywords:

Congenital hyperinsulinism, Hypoglycemia, Neurodevelopment, Diazoxide

Published

2025/11/21

Issue

Vol. VOLUME 6-issue 4

This work is licensed under a Creative Commons Attribution-Non-Commercial 4.0 International License .

This is an open-access journal and all the published articles / items are distributed under the terms of the  Creative Commons Attribution BY-NC 4.0 License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. For comments psimjournal@gmail.com