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Congenital intractable diarrhea with possible defective crypt regeneration: report of a case
R L Chen1, M H Chang, C L Chen
1Department of Pediatrics and Pathology, College of Medicine, National Taiwan University, Taipei, R.O.C.
Insights
A congenital enteropathy caused lifelong feeding intolerance in an infant with severe diarrhea. This condition may stem from a defect in crypt regeneration within the small intestine.
Area of Science:
- Pediatric Gastroenterology
- Gastrointestinal Motility Disorders
- Intestinal Biology
Background:
- Congenital enteropathies represent a group of rare disorders affecting nutrient absorption and intestinal function from birth.
- Early-onset intractable diarrhea in infants often necessitates complex management strategies, including parenteral nutrition.
Observation:
- A male infant presented with intractable watery diarrhea from the third day of life, leading to failure to thrive.
- Despite various interventions, including semielemental diet and parenteral nutrition, the infant remained intolerant to enteral feeding.
- Extensive investigations ruled out common causes of infant diarrhea, including infections, immune deficiencies, metabolic disorders, and cystic fibrosis.
Findings:
- Repeated small intestinal biopsies revealed persistent villous atrophy, crypt hypoplasia, and a reduced crypt mitotic index.
- Electron microscopy showed normal-appearing microvilli, suggesting the pathology was not at the brush border level.
- The findings suggest a potential inborn defect in crypt regeneration as the underlying cause of the congenital enteropathy.
Implications:
- This case highlights a possible novel congenital enteropathy characterized by impaired crypt regeneration and lifelong enteral feeding intolerance.
- Understanding such rare conditions is crucial for developing targeted diagnostic and therapeutic approaches for infants with unexplained severe diarrhea.
- Further research into the genetic and molecular mechanisms of crypt regeneration is warranted to elucidate the etiology of this condition.
Abstract:
A male infant, born uneventfully from a consanguinous marriage, presented with intractable watery diarrhea from his third day of life, with subsequent malnutrition and failure to thrive. He received central parenteral nutrition beginning at three months of age after a poor response to a semielemental diet and peripheral parenteral nutrition. He was totally dependent on central parenteral nutrition thereafter. Although diarrhea disappeared with strict bowel rest, intolerance to minimal enteral feedings persisted throughout his 2 years 4 months of life. Investigations including stool examinations and repeated cultures, immune function studies, radiologic studies of the small bowel and screening for galactosemia and cystic fibrosis could not demonstrate a specific cause for the diarrhea. Repeated small intestinal biopsies at 1 month, 4 months and 1 year 5 months of age showed persistent villous atrophy with crypt hypoplasia and a low crypt mitotic index. Electron microscopic examination revealed normal-appearing microvilli. This child may have had a congenital enteropathy due to an inborn crypt regeneration defect causing lifelong intolerance to enteral feedings.