Original Research

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

Muhammad Alam Khan
The University of Child Health Sciences, The Children’s Hospital Lahore
Jaida Manzoor
The University of Child Health Sciences, The Children’s Hospital Lahore
Muhammad Zahid
The University of Child Health Sciences, The Children’s Hospital Lahore
Javeria Raza Alvi
The University of Child Health Sciences, The Children’s Hospital Lahore
Muhammad Shahzad Afzal
The University of Child Health Sciences, The Children’s Hospital Lahore
Sommayya Aftab
The University of Child Health Sciences, The Children’s Hospital Lahore

✉ Correspondence: Muhammad Alam Khan Email: tahaam1612@gmail.com

DOI https://doi.org/10.70302/jpsim.v6i4.2563
Volume: 6, Issue 4 Pages: 340–347 Published: 21 Nov 2025
Received: 10 Apr 2025 Revised: 01 Jul 2025 Accepted: 11 Oct 2025 Published Online: 21 Nov 2025

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

How to Cite This Article

Khan MA, Manzoor J, Zahid M, Alvi JR, Afzal MS, Aftab S. Clinical Characteristics and Neurodevelopmental Outcome in Children with Congenital Hyperinsulinism in Resource Limited Settings. J Pak Soc Intern Med. 2025;6(4):340–347. doi:10.70302/jpsim.v6i4.2563

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Conflict of Interest

All authors declare no competing interests.

Disclosed in accordance with ICMJE and COPE guidelines.

Funding

No specific funding was received for this research.

Funder information follows the Crossref Funder Registry standard.

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CC BY CC BY 4.0 This article is published under the Creative Commons Attribution 4.0 International License. May be shared and adapted with attribution. © 2025 Journal of Pakistan Society of Internal Medicine.
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