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Expanding the clinical spectrum in trichohepatoenteric syndrome
1Division of Metabolism, Department of Pediatrics, University of Health Sciences, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.
Insights
Trichohepatoenteric syndrome (THES) is a rare genetic disorder. This study presents two sibling cases, highlighting a new TTC37 gene variation and expanding the known clinical spectrum of THES.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder.
- Characterized by intractable diarrhea, dysmorphic features, immunodeficiency, and failure to thrive.
- Management challenges persist despite recent molecular discoveries.
Purpose of the Study:
- To present two sibling cases of Trichohepatoenteric syndrome.
- To describe a novel TTC37 gene variation.
- To expand the understanding of THES clinical manifestations.
Main Methods:
- Case study of two siblings diagnosed with THES.
- Genetic analysis to identify variations in the TTC37 gene.
- Clinical evaluation and follow-up of patients.
Main Results:
- One sibling presented a novel TTC37 gene variation (c.2114+5G>A) with a mild clinical course.
- The other sibling was diagnosed at 17 years old, experiencing seizures and sudden death.
- These findings broaden the spectrum of clinical presentations in THES.
Conclusions:
- The presented cases contribute to the clinical variability of Trichohepatoenteric syndrome.
- Identification of a novel TTC37 variation deepens the understanding of THES genetics.
- Further research is needed to improve THES diagnosis and management.
Abstract:
Trichohepatoenteric syndrome (THES) is a very rare autosomal recessive genetic disorder, which is characterized by intractable diarrhea during infancy, dysmorphic features, immunodeficiency, and a failure to thrive. There are still significant difficulties for patients and clinicians in terms of the management of THES, even though its molecular basis has been uncovered in the last decade. In this article, we have presented two cases relating to siblings that have been diagnosed with the condition. Concerning one of the patients, we described a novel variation (c.2114 + 5G > A) in the TTC37 gene and a mild clinical course; meanwhile, the other one was clinically diagnosed with THES at 17 years of age, but they had seizures and died suddenly. These cases expand the spectrum of clinical findings in relation to THES.
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