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

Sayyed Hesamedin Nabavizadeh Rafat Noeiaghdam Leila Johari Seyed Ali Hosseini Hossein Esmaeilzadeh Soheila Sadat Alyasin

Published in: Clinical case reports (2022)

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.

Keyphrases

intellectual disability
rare case
autism spectrum disorder
early onset
case report