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[Autoimmune enteropathy causing protracted diarrhea]
Y Naveh1, Y Ben-Arieh, Z Greif
1Dept. of Pediatrics B, Rambam Medical Center, Haifa.
Insights
This study reports the first case in Israel of intractable infantile diarrhea caused by autoantibodies targeting intestinal epithelium. The infant experienced severe, treatment-resistant diarrhea, highlighting a rare autoimmune condition.
Area of Science:
- Pediatric Gastroenterology
- Autoimmunology
- Clinical Case Study
Background:
- Protracted secretory diarrhea in infancy is a rare and challenging condition.
- Autoimmune disorders can manifest in early childhood with diverse gastrointestinal symptoms.
Observation:
- A 3-month-old infant presented with severe, intractable diarrhea since birth, unresponsive to standard therapies including total parenteral nutrition (TPN).
- Family history revealed consanguinity and infant deaths from similar conditions.
- Duodenal biopsy showed villous atrophy and lamina propria inflammation, with positive IgG autoantibodies against gut epithelium and thyroglobulin.
Findings:
- The infant required prolonged TPN for 8 months due to feeding intolerance.
- Complications included septicemia, osteomyelitis, and acute renal failure.
- Postmortem examination confirmed near-complete intestinal villous flattening.
Implications:
- This case represents the first documented instance in Israel of infantile diarrhea attributed to autoantibodies against intestinal epithelium.
- The findings underscore the importance of considering autoimmune etiologies in refractory infantile diarrhea.
- Early diagnosis and targeted immunomodulatory therapies may be crucial for managing such rare conditions.
Abstract:
A 3-month old female infant was transferred from another hospital where she had been hospitalized from the age of 1 month for protracted secretory diarrhea. The diarrhea had begun at birth and was unresponsive to various therapeutic formulas and to total parenteral nutrition (TPN). The parents were consanguineous. There were 6 normal siblings, while 3 siblings had died in infancy, including a sister who had succumbed to protracted diarrhea at the age of 6 months. In our patient duodenal biopsy showed flattening of villi and proliferation of mononuclear cells in the lamina propria. Specific circulating IgG antibodies against gut epithelium were found, as well as thyroglobulin antibodies. Repeated trials of oral feeding were unsuccessful and TPN was required for 8 months. Complications included septicemia, osteomyelitis and acute renal failure. Therapeutic trials with intravenous hydrocortisone, zinc sulphate and metronidazole were unsuccessful and the infant died at the age of 11 months. Intestinal tissue taken postmortem showed nearly absolute flattening of intestinal villi. This is the first report in Israel of intractable infantile diarrhea due to autoantibodies to intestinal epithelium.