Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report

Mainas,Alexandros; Maina,Anna; Ziogas,Nikolaos; Papoulidis,Ioannis; Athanasiadis,Apostolos

doi:10.3892/br.2025.1988

Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report

Authors:
- Alexandros Mainas
- Anna Maina
- Nikolaos Ziogas
- Ioannis Papoulidis
- Apostolos Athanasiadis
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Affiliations: Prenatal Diagnosis Centre, 69132 Komotini, Greece, School of Medicine, European University of Cyprus, 2404 Nicosia, Cyprus, Access to Genome, Laboratory of Clinical Genetics, 55134 Thessaloniki, Greece, Third Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece
Published online on: May 2, 2025 https://doi.org/10.3892/br.2025.1988
Article Number: 110
Copyright: © Mainas et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Tricho‑hepato‑enteric (THES) syndrome is a severe congenital diarrheal disorder. It is caused by homozygous or compound heterozygous mutations in the SKIC3 (THES1) or SKIC2 (THES2) gene. Primary manifestations include nine clinical signs: Ιntractable diarrhea, hair abnormalities, facial dysmorphism, IUGR, immunodeficiency, skin abnormalities, liver disease, congenital cardiac defects and platelet anomalies in the 96 cases reported to date. Α case of early, isolated severe fetal growth restriction with a non‑placental etiology is presented, consistent with postnatal findings reported in the literature. Furthermore, this case introduces two novel prenatal ultrasound findings: Severe echogenic bowel, and dolichocephaly in contribution to the limited body of knowledge. Trio‑whole exome sequencing (WES) analysis revealed that the embryo was compound heterozygous for two mutations in SKIC2, both of which were of parental origin. The report also discusses potential mechanisms underlying the observed ultrasound signs, highlighting that the expanded application of WES in prenatal settings will add more cases of sporadic disorder

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