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10:05
Trichuris muris Infection: A Model of Type 2 Immunity and Inflammation in the Gut
Published on: May 24, 2011
Infection-Triggered Disease Flare With Extraintestinal Manifestations in Trichohepatoenteric Syndrome: A Case Report
Hatem M Taha1, Mohammed AbuBaha2, Hossam Salameh2
1Head of Medical Departments, Palestine Medical Complex, Ramallah, State of Palestine.
Case Reports in Medicine
|June 8, 2026
Summary
Trichohepatoenteric syndrome (THES) flares can be triggered by infections, complicating diagnosis. This case highlights extraintestinal symptoms and the need to identify infection-related exacerbations in adolescent survivors.
Area of Science:
- Genetics and rare diseases
- Gastroenterology
- Pediatric medicine
Background:
- Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder.
- THES presents with early-onset diarrhea, woolly hair, facial dysmorphism, and multisystem involvement.
Purpose of the Study:
- To report a case of genetically confirmed THES in a 17-year-old male.
- To highlight the broad phenotype and diagnostic challenges of THES.
Main Methods:
- Case report of a patient with genetically confirmed THES.
- Clinical evaluation including history, symptoms, and response to therapy.
- Review of literature for THES phenotypes and triggers.
Main Results:
- The patient presented with worsening diarrhea, weight loss, and epigastric pain after intestinal amebiasis.
- He exhibited extraintestinal manifestations: chronic recurrent multifocal osteomyelitis, syringomyelia, and inflammatory bowel disease-like enteropathy.
- Intractable diarrhea and positive antiendomysial antibodies complicated diagnosis, mimicking other inflammatory conditions.
Conclusions:
- Infectious triggers, like amebiasis, can precipitate disease flares in THES.
- THES diagnosis is challenging due to overlapping features with autoimmune and inflammatory conditions.
- Early detection of infection-related exacerbations and extraintestinal symptoms is crucial for adolescent THES survivors.
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