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

doi:10.1002/ccr3.6564

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

Clin Case Rep. 2022 Nov 23;10(11):e6564. doi: 10.1002/ccr3.6564. eCollection 2022 Nov.

Authors

Sayyed Hesamedin Nabavizadeh¹, Rafat Noeiaghdam¹, Leila Johari¹, Seyed Ali Hosseini², Hossein Esmaeilzadeh¹, Soheila Sadat Alyasin¹

Affiliations

¹ Allergy Research Center, Department of Pediatrics, School of Medicine Shiraz University of Medical Sciences Shiraz Iran.
² School of Medicine Shiraz University of Medical Sciences Shiraz Iran.

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.

Keywords: Allergy and immunology; Genetics; Pediatrics; SRD5A3‐CDG.

Publication types

Case Reports