• J Coll Physicians Surg Pak · Feb 2022

    Case Reports

    Tricho-Hepato-Eenteric Syndrome: Same Genotype but Different Phenotypes in Two Pakistani Children.

    • Nadia Waheed, Anjum Saeed, and Huma Arshad Cheema.
    • Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital & Institute of Child Health, Lahore, Pakistan.
    • J Coll Physicians Surg Pak. 2022 Feb 1; 32 (2): 242-246.

    AbstractTricho-hepato-enteric syndrome (THES) is characterised by infantile diarrhea with characteristic facies, trichorrhexis nodosa and hepatic involvement. The underlying genetic mutation is in tetratricopeptide repeat domain 37 (TTC37) gene. It is a very rare syndrome and only 44 cases have been reported so far in the medical literature. We recently diagnosed two children with THES on genetic analysis, who had same genotype but different phenotypes. Using these cases as a precedent, we reviewed what is known about this rare syndrome, as well as the novelties in our cases and treatment options. Key Words: Chronic diarrhea, Liver disease, Genetic mutation, TTC37.

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