Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.

Autor: Alrammal A; University of Sharjah, Sharjah, United Arab Emirates., Aljundi R; Faculty of Medicine, University of Aleppo, Aleppo, Syria. rashed6975@gmail.com., Abu Ghedda S; Faculty of Medicine, University of Aleppo, Aleppo, Syria., AlMurbati BM; Pediatric Department, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates.
Jazyk: angličtina
Zdroj: BMC pediatrics [BMC Pediatr] 2024 Jul 10; Vol. 24 (1), pp. 444. Date of Electronic Publication: 2024 Jul 10.
DOI: 10.1186/s12887-024-04924-7
Abstrakt: Trichohepatoenteric syndrome (THES), also known as phenotypic diarrhea or syndromic diarrhea, is a rare autosomal recessive genetic disorder caused by mutations in SKIC2 (THES-type 2) or SKIC3 (THES-type 1) and is characterized by early onset diarrhea, woolly brittle hair, facial dysmorphic features and liver disease. We report the case of a 24-month-old girl who presented with chronic diarrhea since the neonatal period along with intrauterine growth restriction (IUGR), developmental delay, dysmorphic features, congenital heart defects, liver disease, and recurrent infections. The diagnosis was made through whole-exome sequencing analysis, which detected a homozygous variant (c.4070del, p.Pro1357Leufs*10) in the SKIC3 gene. The patient required parenteral nutrition and was hospitalized for the first 10 months of life and then discharged on PN after showing improvement. She remained stable on PN after discharge despite a few admissions for central line infections. Recent follow-up at the age of 2 years revealed that she was stable on long-term parenteral nutrition and that she had advanced chronic liver disease.
(© 2024. The Author(s).)
Databáze: MEDLINE
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