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.

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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

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

Issue

Section

CASE REPORT