JPSIM Journal of Pakistan Society of Internal Medicine J Pak Soc Intern Med 2709-8729 2710-0804 Pakistan Society of Internal Medicine 10.70302/jpsim.v6i4.2563 jpsim.v6i4.2563 Original Research Clinical Characteristics and Neurodevelopmental Outcome in Children with Congenital Hyperinsulinism in Resource Limited Settings Khan Muhammad Alam tahaam1612@gmail.com * Manzoor Jaida Zahid Muhammad Alvi Javeria Raza Afzal Muhammad Shahzad Aftab Sommayya The University of Child Health Sciences, The Children’s Hospital Lahore *Correspondence: Muhammad Alam Khan (tahaam1612@gmail.com) 21 11 2025 2025 6 4 340 347 10 04 2025 01 07 2025 11 10 2025 Copyright © 2025 The Author(s) 2025 The Author(s) https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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.

 Methodology

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 (

 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 Ethics Statement

Ethics committee: Ethics Committee, The University of Child Health Sciences / The Children's Hospital, Lahore, Pakistan. Approval number: 688/CH-UCHS, dated September 09, 2023.

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