Long-term follow-up of a patient with syndromic diarrhea (tricho-hepato-enteral syndrome) with Crohn's-like syndrome

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.