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A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report
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  • hesam nabavizadeh,
  • Rafat Noeiaghdam,
  • Leila Johari,
  • Seyed Ali Hosseini,
  • Hossein Esmaeilzadeh,
  • Soheila Alyasin
hesam nabavizadeh
Shiraz University of Medical Sciences

Corresponding Author:[email protected]

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Rafat Noeiaghdam
Shiraz University of Medical Sciences
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Leila Johari
Shiraz University of Medical Sciences
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Seyed Ali Hosseini
Shiraz University of Medical Sciences
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Hossein Esmaeilzadeh
Shiraz University of Medical Sciences
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Soheila Alyasin
Shiraz University of Medical Sciences
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Abstract

SRD5A3-CDG (MIM 612379) is an extremely rare congenital disease, with only 38 cases having been reported. 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.

Peer review status:Published

25 Jun 2022Submitted to Clinical Case Reports
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27 Jun 2022Submission Checks Completed
27 Jun 2022Assigned to Editor
02 Jul 2022Reviewer(s) Assigned
16 Jul 2022Review(s) Completed, Editorial Evaluation Pending
19 Jul 2022Editorial Decision: Revise Minor
27 Sep 20221st Revision Received
28 Sep 2022Submission Checks Completed
28 Sep 2022Assigned to Editor
28 Sep 2022Review(s) Completed, Editorial Evaluation Pending
19 Oct 2022Editorial Decision: Accept
Nov 2022Published in Clinical Case Reports volume 10 issue 11. 10.1002/ccr3.6564