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

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

Sayyed Hesamedin Nabavizadeh  1 , Rafat Noeiaghdam  1 , Leila Johari  1 , Seyed Ali Hosseini  2 , Hossein Esmaeilzadeh  1 , Soheila Sadat Alyasin  1
Affiliations
Case Reports

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

Sayyed Hesamedin Nabavizadeh et al. Clin Case Rep. .

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.

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Conflict of interest statement

None.

Figures

FIGURE 1
FIGURE 1
Slight facial coarseness, mildly deep‐set eyes, round nasal tip, full cheeks, and thick lips.
See this image and copyright information in PMC

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