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Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report

RATIONALE: Risk factors of cerebral venous sinus thrombosis (CVST) are usually divided into acquired risks (e.g., trauma and pregnancy) and genetic risks (inherited thrombophilia). It is essential but not easy to identify the exact one for each patient. PATIENT CONCERNS: A 14-year-old male patient w...

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Autores principales: Shang, Ke, Li, Hui, Luo, Xiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380785/
https://www.ncbi.nlm.nih.gov/pubmed/30732165
http://dx.doi.org/10.1097/MD.0000000000014349
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author Shang, Ke
Li, Hui
Luo, Xiang
author_facet Shang, Ke
Li, Hui
Luo, Xiang
author_sort Shang, Ke
collection PubMed
description RATIONALE: Risk factors of cerebral venous sinus thrombosis (CVST) are usually divided into acquired risks (e.g., trauma and pregnancy) and genetic risks (inherited thrombophilia). It is essential but not easy to identify the exact one for each patient. PATIENT CONCERNS: A 14-year-old male patient was admitted in our hospital because of progressively exacerbated severe headache and vomiting for 3 days, accompanied by transient weakness once in his right leg. DIAGNOSIS: CVST due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation. INTERVENTIONS: Persistent oral anticoagulant therapy. OUTCOMES: Follow-ups at 4 months and 1 year showed that the patient's symptoms alleviated and did not recur, accompanied with improved MRV image; however, the cranial MRV image did not display as a completely normal one. LESSONS: We recommend that in case of thrombophilic state, serum homocysteine (Hcy), folic acid, and vitamin B12 levels should be routinely screened; when serum Hcy level is extremely high, congenital diseases caused by gene mutations should be considered. We firstly discovered a new mutation of CBS c.949A>G which had not been reported before.
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spelling pubmed-63807852019-03-04 Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report Shang, Ke Li, Hui Luo, Xiang Medicine (Baltimore) Research Article RATIONALE: Risk factors of cerebral venous sinus thrombosis (CVST) are usually divided into acquired risks (e.g., trauma and pregnancy) and genetic risks (inherited thrombophilia). It is essential but not easy to identify the exact one for each patient. PATIENT CONCERNS: A 14-year-old male patient was admitted in our hospital because of progressively exacerbated severe headache and vomiting for 3 days, accompanied by transient weakness once in his right leg. DIAGNOSIS: CVST due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation. INTERVENTIONS: Persistent oral anticoagulant therapy. OUTCOMES: Follow-ups at 4 months and 1 year showed that the patient's symptoms alleviated and did not recur, accompanied with improved MRV image; however, the cranial MRV image did not display as a completely normal one. LESSONS: We recommend that in case of thrombophilic state, serum homocysteine (Hcy), folic acid, and vitamin B12 levels should be routinely screened; when serum Hcy level is extremely high, congenital diseases caused by gene mutations should be considered. We firstly discovered a new mutation of CBS c.949A>G which had not been reported before. Wolters Kluwer Health 2019-02-08 /pmc/articles/PMC6380785/ /pubmed/30732165 http://dx.doi.org/10.1097/MD.0000000000014349 Text en Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial License 4.0 (CCBY-NC), where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc/4.0
spellingShingle Research Article
Shang, Ke
Li, Hui
Luo, Xiang
Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report
title Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report
title_full Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report
title_fullStr Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report
title_full_unstemmed Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report
title_short Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report
title_sort cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (cbs) gene mutation: a case report
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6380785/
https://www.ncbi.nlm.nih.gov/pubmed/30732165
http://dx.doi.org/10.1097/MD.0000000000014349
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