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

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‐yea...

Full description

Saved in:
Bibliographic Details
Published in:Clinical case reports 2022-11, Vol.10 (11), p.e6564-n/a
Main Authors: Nabavizadeh, Sayyed Hesamedin, Noeiaghdam, Rafat, Johari, Leila, Hosseini, Seyed Ali, Esmaeilzadeh, Hossein, Alyasin, Soheila Sadat
Format: Article
Language:English
Subjects:
Allergy and immunology
Ataxia
Case reports
Congenital diseases
Data collection
Genetic disorders
Genetics
Genotype & phenotype
Insulin-like growth factors
Intellectual disabilities
Mutation
Optic nerve
Pediatrics
SRD5A3‐CDG
Steroids
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. Genetic disorders such as SRD5A3‐CDG must not be overlooked when a child presents with ataxia and telangiectasia. Whole‐exome sequencing should be requested in cases that do not fit the typical clinical picture of ataxia‐telangiectasia.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.6564