Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report
Aicardi Goutiere’s syndrome is an autosomal recessive neurodegenerative disorder. Its clinical signs usually mimic TORCH-like clinical signs; which makes the differential diagnosis difficult. Here, we report a case with one homozygous pathogenic mutation c.529G>A p.Ala177Thr on RNASEH2B gene (NM_...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Mashhad University of Medical Sciences
2021-10-01
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| Series: | Reviews in Clinical Medicine |
| Subjects: | |
| Online Access: | https://rcm.mums.ac.ir/article_19664_eb0de6b0f266be97d767a4f32e84b763.pdf |
| _version_ | 1828329826438610944 |
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| author | Mohammad Moein Vakilzadeh Najmeh Ahangari Ehsan Ghayoor Karimiani Mehran Beiraghi Toosi |
| author_facet | Mohammad Moein Vakilzadeh Najmeh Ahangari Ehsan Ghayoor Karimiani Mehran Beiraghi Toosi |
| author_sort | Mohammad Moein Vakilzadeh |
| collection | DOAJ |
| description | Aicardi Goutiere’s syndrome is an autosomal recessive neurodegenerative disorder. Its clinical signs usually mimic TORCH-like clinical signs; which makes the differential diagnosis difficult. Here, we report a case with one homozygous pathogenic mutation c.529G>A p.Ala177Thr on RNASEH2B gene (NM_024570) that relates to Aicardi-Goutieres syndrome type 2 that had been misdiagnosed in about 5 years. |
| first_indexed | 2024-04-13T20:30:59Z |
| format | Article |
| id | doaj.art-045d10efba274bc887bbecfc17faab5c |
| institution | Directory Open Access Journal |
| issn | 2345-6256 2345-6892 |
| language | English |
| last_indexed | 2024-04-13T20:30:59Z |
| publishDate | 2021-10-01 |
| publisher | Mashhad University of Medical Sciences |
| record_format | Article |
| series | Reviews in Clinical Medicine |
| spelling | doaj.art-045d10efba274bc887bbecfc17faab5c2022-12-22T02:31:10ZengMashhad University of Medical SciencesReviews in Clinical Medicine2345-62562345-68922021-10-018419419610.22038/rcm.2022.56005.135719664Misdiagnosed Aicardi Goutières Syndrome Patient: A Case ReportMohammad Moein Vakilzadeh0Najmeh Ahangari1Ehsan Ghayoor Karimiani2Mehran Beiraghi Toosi3Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranNext Generation Genetic Polyclinic, Mashhad, Iran. Department of Modern Sciences and Technologiesm Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranNext Generation Genetic Polyclinic, Mashhad, Iran. Honorary Researcher, University of Manchester, UKPediatric Neurology Department, Ghaem hospital, Mashhad University of Medical Sciences, Mashhad, IranAicardi Goutiere’s syndrome is an autosomal recessive neurodegenerative disorder. Its clinical signs usually mimic TORCH-like clinical signs; which makes the differential diagnosis difficult. Here, we report a case with one homozygous pathogenic mutation c.529G>A p.Ala177Thr on RNASEH2B gene (NM_024570) that relates to Aicardi-Goutieres syndrome type 2 that had been misdiagnosed in about 5 years.https://rcm.mums.ac.ir/article_19664_eb0de6b0f266be97d767a4f32e84b763.pdfaicardi goutieresneurogeneticsnext generation sequencing |
| spellingShingle | Mohammad Moein Vakilzadeh Najmeh Ahangari Ehsan Ghayoor Karimiani Mehran Beiraghi Toosi Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report Reviews in Clinical Medicine aicardi goutieres neurogenetics next generation sequencing |
| title | Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report |
| title_full | Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report |
| title_fullStr | Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report |
| title_full_unstemmed | Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report |
| title_short | Misdiagnosed Aicardi Goutières Syndrome Patient: A Case Report |
| title_sort | misdiagnosed aicardi goutieres syndrome patient a case report |
| topic | aicardi goutieres neurogenetics next generation sequencing |
| url | https://rcm.mums.ac.ir/article_19664_eb0de6b0f266be97d767a4f32e84b763.pdf |
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