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...

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Autores principales: Nabavizadeh, Sayyed Hesamedin, Noeiaghdam, Rafat, Johari, Leila, Hosseini, Seyed Ali, Esmaeilzadeh, Hossein, Alyasin, Soheila Sadat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684675/
https://www.ncbi.nlm.nih.gov/pubmed/36439385
http://dx.doi.org/10.1002/ccr3.6564
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author Nabavizadeh, Sayyed Hesamedin
Noeiaghdam, Rafat
Johari, Leila
Hosseini, Seyed Ali
Esmaeilzadeh, Hossein
Alyasin, Soheila Sadat
author_facet Nabavizadeh, Sayyed Hesamedin
Noeiaghdam, Rafat
Johari, Leila
Hosseini, Seyed Ali
Esmaeilzadeh, Hossein
Alyasin, Soheila Sadat
author_sort Nabavizadeh, Sayyed Hesamedin
collection PubMed
description 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.
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spelling pubmed-96846752022-11-25 A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report Nabavizadeh, Sayyed Hesamedin Noeiaghdam, Rafat Johari, Leila Hosseini, Seyed Ali Esmaeilzadeh, Hossein Alyasin, Soheila Sadat Clin Case Rep 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‐year‐old boy with SRD5A3‐CDG (homozygous variant c.57G>A [p.Trp19Ter]), featuring the unprecedented finding of telangiectasia. John Wiley and Sons Inc. 2022-11-23 /pmc/articles/PMC9684675/ /pubmed/36439385 http://dx.doi.org/10.1002/ccr3.6564 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Nabavizadeh, Sayyed Hesamedin
Noeiaghdam, Rafat
Johari, Leila
Hosseini, Seyed Ali
Esmaeilzadeh, Hossein
Alyasin, Soheila Sadat
A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report
title A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report
title_full A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report
title_fullStr A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report
title_full_unstemmed A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report
title_short A rare case of SRD5A3‐CDG in a patient with ataxia and telangiectasia: A case report
title_sort rare case of srd5a3‐cdg in a patient with ataxia and telangiectasia: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684675/
https://www.ncbi.nlm.nih.gov/pubmed/36439385
http://dx.doi.org/10.1002/ccr3.6564
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