Infection-Triggered Disease Flare With Extraintestinal Manifestations in Trichohepatoenteric Syndrome: A Case Report.

Abstract

Trichohepatoenteric syndrome (THES) is a rare, autosomal recessive disorder characterized by early-onset diarrhea, woolly hair, and facial dysmorphism and variable multisystem involvement. Herein, we report a 17-year-old male with a genetically confirmed THES who presented with worsening diarrhea, fatigability, weight loss, and epigastric pain following intestinal amebiasis. His disease course was notable for extraintestinal and inflammatory manifestations, including chronic recurrent multifocal osteomyelitis, syringomyelia, and inflammatory bowel disease-such as enteropathy, highlighting a broad phenotype. The patient had intractable diarrhea since the age of 2, positive antiendomysial antibodies with no histologic confirmation, and a poor response to standard inflammatory bowel disease therapy. This case highlights the potential role of infectious triggers in precipitating disease flares in THES and demonstrates the diagnostic challenges posed by overlapping clinical and serological features with other autoimmune and inflammatory conditions. Our study broadens the clinical spectrum of THES and emphasizes the importance of detecting infection-related exacerbations and extraintestinal symptoms in adolescent survivors.