Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review

Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2. This case report describes two far-related pediatric patients from Bahrain diagnosed with THES type 1. Although both patients exhibited typical symptoms of this syndrome, the first patient had more severe symptoms. Diagnostic genetic evaluations confirmed THES. Patient 1 had three homozygous variants in the TTC37 gene, while Patient 2 had two variants in the same gene. Both of our patients had a novel homozygous variant. The treatment focused on supportive care and infection management. Despite these efforts, patients did not reach their growth potential. This report underscores the necessity for early identification of THES to facilitate appropriate management and genetic counseling.