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Evaluation of jejunal function in Wolman's disease
M Kikuchi1, K Igarashi, T Noro
1Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
Journal of Pediatric Gastroenterology and Nutrition
|January 1, 1991
Summary
Wolman's disease, a rare genetic disorder, causes severe intestinal malabsorption in infants due to damaged jejunum. This damage prevents nutrient absorption, leading to fatal complications.
Area of Science:
- Gastroenterology
- Pediatric Pathology
- Human Genetics
Background:
- Wolman's disease is a rare autosomal recessive disorder.
- It is characterized by intractable diarrhea and severe malabsorption in infants.
- This case focuses on jejunal digestive and absorptive functions.
Observation:
- Histological examination revealed distorted, club-shaped intestinal villi due to foam cell infiltration.
- Electron microscopy showed markedly shortened and irregular microvilli in epithelial cells.
- Severe impairment of disaccharidase activity was observed.
Findings:
- Electrophysiological studies confirmed a loss of sugar- and amino acid-evoked potential differences in the jejunum.
- These findings indicate severe intestinal malabsorption.
- The intestinal damage in Wolman's disease severely limits enteral nutrition absorption.
Implications:
- Wolman's disease presents a critical challenge in infant nutrition management.
- Early diagnosis and understanding of jejunal pathology are crucial.
- Despite supportive care, the prognosis remains poor, with hepatic failure being a common cause of death.