Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Gene
; 699: 110-114, 2019 May 30.
Article
em En
| MEDLINE
| ID: mdl-30844479
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 8â¯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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Diarreia
/
Diarreia Infantil
/
Retardo do Crescimento Fetal
/
Doenças do Cabelo
Limite:
Humans
Idioma:
En
Revista:
Gene
Ano de publicação:
2019
Tipo de documento:
Article