Expanding the clinical spectrum in trichohepatoenteric syndrome

Am J Med Genet A. 2021 Oct;185(10):2873-2877. doi: 10.1002/ajmg.a.62354. Epub 2021 May 26.

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.

Keywords: TTC37 gene; intractable diarrhea; trichohepatoenteric syndrome.

MeSH terms

  • Adolescent
  • Carrier Proteins / genetics*
  • Diarrhea, Infantile / complications
  • Diarrhea, Infantile / diagnosis
  • Diarrhea, Infantile / genetics*
  • Diarrhea, Infantile / pathology
  • Facies
  • Failure to Thrive / complications
  • Failure to Thrive / diagnosis
  • Failure to Thrive / genetics*
  • Failure to Thrive / pathology
  • Female
  • Fetal Growth Retardation / diagnosis
  • Fetal Growth Retardation / genetics*
  • Fetal Growth Retardation / pathology
  • Genetic Predisposition to Disease
  • Hair Diseases / complications
  • Hair Diseases / diagnosis
  • Hair Diseases / genetics*
  • Hair Diseases / pathology
  • Humans
  • Infant
  • Malabsorption Syndromes / complications
  • Malabsorption Syndromes / diagnosis
  • Malabsorption Syndromes / genetics*
  • Malabsorption Syndromes / pathology
  • Male
  • Microvilli / genetics
  • Microvilli / pathology*
  • Mucolipidoses / complications
  • Mucolipidoses / diagnosis
  • Mucolipidoses / genetics*
  • Mucolipidoses / pathology
  • Primary Immunodeficiency Diseases / complications
  • Primary Immunodeficiency Diseases / diagnosis
  • Primary Immunodeficiency Diseases / genetics
  • Primary Immunodeficiency Diseases / pathology
  • Siblings

Substances

  • Carrier Proteins
  • TTC37 protein, human

Supplementary concepts

  • Microvillus inclusion disease
  • Trichohepatoenteric Syndrome