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Misdiagnosis of congenital chloride-losing diarrhea

S N Khan1, H M Yaish

  • 1Department of Pediatrics, King Fahad National Guard Hospital, Riyadh, Saudi Arabia.

Journal of Perinatology : Official Journal of the California Perinatal Association
|June 1, 1992
PubMed

Insights

Congenital chloride-losing diarrhea, a rare genetic disorder, causes severe dehydration and failure to thrive in infants due to impaired chloride absorption. Early diagnosis and treatment are crucial for a good prognosis.

Area of Science:

  • Gastroenterology
  • Pediatrics
  • Genetics

Background:

  • Congenital chloride-losing diarrhea is an autosomal recessive disorder characterized by impaired chloride-bicarbonate exchange in the small intestine.
  • This malabsorption leads to osmotic diarrhea, electrolyte imbalances, dehydration, and potentially fatal outcomes if untreated.

Observation:

  • Affected infants present with secretory diarrhea in utero, causing polyhydramnios and distended bowel loops.
  • At birth, profuse watery stools can be mistaken for urine, delaying diagnosis and leading to misinterventions.

Findings:

  • The study highlights two cases initially misdiagnosed, underscoring diagnostic challenges.
  • Early identification of congenital chloride-losing diarrhea is critical for timely intervention.

Implications:

  • Prompt diagnosis and management of electrolyte abnormalities significantly improve infant outcomes.
  • A high index of suspicion in neonates with polyhydramnios, prematurity, and watery stools is essential for accurate diagnosis.

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