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

Abstract

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