Abstract
Objective. To describe a long-term follow-up of a patient with a rare genetic disease – syndromic diarrhea, or trichohepatoenteric syndrome.Results. From the first months of life, the child was diagnosed with incurable diarrhea syndrome, which led to the development of malabsorption syndrome, retardation of physical and psychomotor development. Long-term follow-up revealed the progression of malabsorption syndrome, metabolic and endocrine disorders against the background of increasing morphological changes in the intestine. Only a genetic study of the patient and his parents made it possible to formulate the final diagnosis: «Syndromic diarrhea (trichohepatoenteric syndrome, nucleotide variant g.31929071C> T homozygous in the SKIV2L gene) with crown-like syndrome».Conclusion. The combination of incurable chronic diarrhea syndrome with facial dysmorphism, skin and hair abnormalities is important for this diagnosis.
Highlights
ObjectiveTo describe a long-term follow-up of a patient with a rare genetic disease – syndromic diarrhea, or trichohepatoenteric syndrome
Breton A. et al Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome
The authors of this article confirmed the lack of conflict of interest
Summary
To describe a long-term follow-up of a patient with a rare genetic disease – syndromic diarrhea, or trichohepatoenteric syndrome. For citation: Kurmaeva E.A., Volgina S.Ya., Solovyeva N.A., Kulakova G.A., Bogolyubova V.V., Irgeshova H.Zh. Long-term follow-up of a patient with syndromic diarrhea (tricho-hepato-enteral syndrome) with Crohn's-like syndrome. Впервые трихогепатоэнтеральный синдром (tricho-hepato-enteric syndrome) описали в 1982 г. – задержка внутриутробного развития плода; – некурабельная хроническая диарея, которая начинается с первых месяцев жизни и ведет к тяжелой гипотрофии; – лицевой дисморфизм – выступающий лоб и щеки, широкое основание носа, широкая переносица, гипертелоризм глаз, низко посаженные уши, большой рот; – аномалия роста волос (волосы имеют «шерстистый» вид, сухие и ломкие, склонны к быстрому выпадению; – иммунные расстройства (снижение продукции иммуноглобулинов); – отставание в физическом и психическом развитии; – кожные аномалии (ксероз, пятна по типу «кофе с молоком» и ангиомы).
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
