Congenital diarrhoea in a neonate with hypernatraemia and dehydration Authors Ammara Kaleem University of Child Health Sciences, Lahore, Pakistan Javaria Younus University of Child Health Sciences, Lahore, Pakistan Farah Haroon University of Child Health Sciences, Lahore, Pakistan Bushra Fatima University of Child Health Sciences, Lahore, Pakistan Faria Afzal University of Child Health Sciences, Lahore, Pakistan Shumaila Chaudhry University of Child Health Sciences, Lahore, Pakistan DOI: https://doi.org/10.47391/JPMA.7876 Keywords: Hypernatremia, dehydration, diarrhoea, glucose galactose malabsorption Abstract Diarrhoea, vomiting, and dehydration are frequently encountered in neonatal emergency. However, it is challenging to manage resistant hypernatraemia and metabolic acidosis associated with it. Diagnosing the exact cause is even more difficult. Glucose-galactose malabsorption commonly presents with hypernatraemia and repeated dehydration. In the case described here, the baby started to have diarrhoea in the first week of life and presented in the neonatal emergency with severe dehydration and hypernatraemia. Higher sodium levels were difficult to manage throughout the course of illness. Hypernatraemia and diarrhoea worsened on feeding, whether formula or mother’s feed, which raised suspicion of glucose and galactose malabsorption. So, genetic testing was performed and fructose based formula was started which led to improvement in the condition. Later, genetic testing confirmed our diagnosis. ---Continue Author Biographies Javaria Younus, University of Child Health Sciences, Lahore, Pakistan Assisstant professor Neonatology Farah Haroon, University of Child Health Sciences, Lahore, Pakistan Head of department and associate professor of neonatology Bushra Fatima, University of Child Health Sciences, Lahore, Pakistan Assisstant professor neonatology Faria Afzal, University of Child Health Sciences, Lahore, Pakistan post graduate resident Downloads Full Text Article Published 2023-10-30 How to Cite Ammara Kaleem, Javaria Younus, Farah Haroon, Bushra Fatima, Faria Afzal, & Shumaila Chaudhry. (2023). Congenital diarrhoea in a neonate with hypernatraemia and dehydration. Journal of the Pakistan Medical Association, 73(11), 2254–2256. https://doi.org/10.47391/JPMA.7876 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 73 No. 11 (2023): NOVEMBER Section CASE REPORT License Copyright (c) 2023 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.