Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.

Abstract Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin changes. THES is associated with pathogenic variants in either TTC37 or SKIV2L ; both are components of the human SKI complex, an RNA exosome cofactor. We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L. While THES was considered in the differential diagnosis, the absence of protracted diarrhoea delayed definitive diagnosis. We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. We expand the phenotypic spectrum while reviewing the current knowledge on SKIV2L. Highlights • Tricho-hepatic-enteric syndrome is a rare genetic disorder associated with mutations in SKIV2l or TTC37. • Nearly all affected children present intractable diarrhoea in early childhood. • We present a case of tricho-hepatic-enteric syndrome without characteristic diarrhoea caused by mutation in SKIV2. • The lack of characteristic diarrhoea expands the spectrum of tricho-hepatic-enteric syndrome. [ABSTRACT FROM AUTHOR]