Author(s):
1. Nadia Waheed:
Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital & Institute of Child Health, Lahore, Pakistan
2. Anjum Saeed:
Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital & Institute of Child Health, Lahore, Pakistan
3. Huma Arshad Cheema:
Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital & Institute of Child Health, Lahore, Pakistan
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 di erent 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.
Page(s):
242-246
DOI:
DOI not available
Published:
Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 32, Issue: 2, Year: 2022
Keywords:
Genetic mutation
,
Liver disease
,
Chronic Diarrhea
,
TTC37
References:
References are not available for this document.
Citations
Citations are not available for this document.