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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.
Insights
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.
Abstract:
Findings in a 1-month-old male infant with Wolman's disease, a rare autosomal defect characterized by intractable diarrhea and severe malabsorption, are described. Investigations in this case focused on the digestive and absorptive functions of the jejunum using histological, biochemical, and electrophysiological methods. The intestinal villi were found to be distorted and club-shaped as a result of the infiltration of foam cells into the lamina propria of the mucosa. The microvilli of the epithelial cells were found on electron microscopy to be markedly shortened and irregular, and had a severe impairment of disaccharidase activity. Documentation of the loss of the sugar- and amino acid-evoked potential differences in the jejunum confirmed the severity of intestinal malabsorption. These observations indicate that the intestinal damage in Wolman's disease is so severe as virtually to exclude the absorption of any form of enteral nutrition. Despite the administration of i.v. hyperalimentation, the infant died of hepatic failure at the age of 6 months.