AI Article Synopsis
- Tricho-hepato-enteric syndrome (THES) is a rare disorder marked by symptoms like infantile diarrhea, distinctive facial features, trichorrhexis nodosa (hair issues), and liver problems, linked to a genetic mutation in the TTC37 gene.
- Only 44 cases of THES have been documented in medical literature, highlighting its rarity.
- The recent diagnosis of two children with THES with the same genotype but different clinical presentations sheds light on the complexities of the syndrome and emphasizes the need for further research and treatment options.
Article Abstract
Tricho-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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| http://dx.doi.org/10.29271/jcpsp.2022.02.242 | DOI Listing |
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