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A Rare Cause of Intractable Diarrhea of Infancy
Salman Ali1, Aroma Tariq1, Maryam Ghuncha1
1Department of Paediatrics, Fazaia Medical College, Islamabad, Pakistan.
Insights
Congenital glucose galactose malabsorption (CGGM) is a rare cause of intractable infant diarrhea. Early diagnosis of this genetic disorder is crucial for life-saving dietary management and preventing severe dehydration.
Area of Science:
- Pediatrics
- Gastroenterology
- Medical Genetics
Background:
- Intractable watery diarrhea in neonates is uncommon.
- Congenital malabsorption disorders are significant causes of persistent infantile diarrhea.
- Consanguinity increases the risk of rare genetic disorders.
Abstract:
Intractable watery diarrhea presenting in the neonatal period is a relatively uncommon condition. Congenital disorders of malabsorption are among the major causes of prolonged watery diarrhea. This is the case report of a 3-month male infant born to consanguineous parents, who presented with intractable diarrhea since birth. He was failing to thrive and wasted. Persistent diarrhea lead to prolonged hospitalisation and recurrent hypernatremic dehydration. Relevant investigations clinched the diagnosis of ''congenital glucose galactose malabsorption (CGGM)''. The astute clinician should have a high index of suspicion regarding such rare causes of diarrhea in early infancy, as an appropriate rational diagnosis can lead to life-saving treatment as depicted in this case report.
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