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Congenital chloride diarrhoea in a Malay child

M Z Norzila1, B H Azizi

  • 1Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, K. Lumpur.

The Medical Journal of Malaysia
|March 1, 1994
PubMed

Insights

Congenital chloride diarrhoea is a rare genetic disorder. This case report details a Malay child diagnosed with this condition, highlighting its presentation outside of its typical geographic origin.

Area of Science:

  • Genetics
  • Pediatrics
  • Gastroenterology

Background:

  • Congenital chloride diarrhoea (CLD) is an autosomal recessive disorder.
  • CLD is characterized by excessive chloride loss in the intestines, leading to secretory diarrhea.
  • The condition is primarily documented in the Finnish population.

Observation:

  • A six-month-old Malay infant presented with persistent watery stools since birth.
  • The infant exhibited failure to thrive, a common symptom in severe diarrheal disorders.
  • This presentation is notable given the rarity of CLD in non-Finnish populations.

Findings:

  • The case confirms congenital chloride diarrhoea in a child of Malay ethnicity.
  • The clinical presentation aligns with established diagnostic criteria for CLD.
  • This finding expands the known demographic and geographic distribution of CLD.

Implications:

  • Highlights the importance of considering CLD in infants with unexplained watery diarrhea and failure to thrive, regardless of ethnicity.
  • Suggests potential genetic factors or founder effects in other populations.
  • Underscores the need for increased awareness and diagnostic efforts for rare genetic disorders globally.

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