A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report.

ABSTRACT: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is an extremely rare congenital disease. Common manifestations are developmental delay, intellectual disability, ophthalmological abnormalities, cerebellar abnormalities, ataxia, and hypotonia. Here, we discuss a seven-year-old boy with SRD5A3-CDG (homozygous variant c.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia.

SUBMITTER: Nabavizadeh SH 

PROVIDER: S-EPMC9684675 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature