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[Malabsorption and developmental retardation due to secondary trypsin deficiency]
Harefuah
|January 1, 1990
Summary
A rare cause of childhood malabsorption, secondary trypsin deficiency, can be treated with pancreatic enzyme replacement. Timely treatment prevents severe developmental defects in affected children.
Area of Science:
- Pediatric Gastroenterology
- Malabsorption Syndromes
- Enzyme Deficiencies
Background:
- Chronic diarrhea and developmental delay in children can indicate underlying malabsorption.
- Pancreatic exocrine function is crucial for nutrient absorption and growth.
Observation:
- A 1.5-year-old girl presented with 10 months of chronic diarrhea and impaired physical and psychomotor development.
- Diagnostic tests revealed absent duodenal tryptic activity, suggesting a deficiency in pancreatic enzymes.
Findings:
- Pancreatic enzyme replacement therapy led to the cessation of diarrhea and resumption of growth.
- Duodenal tryptic activity normalized within six months of treatment.
- A decade-long follow-up confirmed normal physical and mental development.
Implications:
- Secondary trypsin deficiency is a rare but treatable cause of childhood malabsorption.
- Early diagnosis and appropriate pancreatic enzyme replacement are vital to prevent irreversible developmental deficits.
- This case highlights the importance of considering enzyme deficiencies in pediatric malabsorption.