Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiency
Coenzyme q10 (CoQ10) deficiency is an extremely uncommon disease that has very rarely been reported in adulthood. This case describes an elderly male with ataxia since adolescence, and visual disturbance since 40, presenting with recurrent episodes of seizures. Imaging revealed stroke-like episodes,...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Annals of Indian Academy of Neurology |
| Subjects: | |
| Online Access: | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=6;spage=980;epage=982;aulast=Ramesh |
| _version_ | 1797352268020842496 |
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| author | Rithvik Ramesh Sundar Hariharan Latha Sundar |
| author_facet | Rithvik Ramesh Sundar Hariharan Latha Sundar |
| author_sort | Rithvik Ramesh |
| collection | DOAJ |
| description | Coenzyme q10 (CoQ10) deficiency is an extremely uncommon disease that has very rarely been reported in adulthood. This case describes an elderly male with ataxia since adolescence, and visual disturbance since 40, presenting with recurrent episodes of seizures. Imaging revealed stroke-like episodes, with other immune and infective evaluations being negative. He was eventually diagnosed to have Primary CoQ10 deficiency secondary to CoQ8A mutation. This account highlights the challenges in diagnosing and managing primary Coenzyme Q10 deficiency, especially when it presents later in life with atypical features such as stroke-like episodes. |
| first_indexed | 2024-03-08T13:13:57Z |
| format | Article |
| id | doaj.art-02413efc558947eca4cc7631016f5244 |
| institution | Directory Open Access Journal |
| issn | 0972-2327 1998-3549 |
| language | English |
| last_indexed | 2024-03-08T13:13:57Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Indian Academy of Neurology |
| spelling | doaj.art-02413efc558947eca4cc7631016f52442024-01-18T10:33:01ZengWolters Kluwer Medknow PublicationsAnnals of Indian Academy of Neurology0972-23271998-35492023-01-0126698098210.4103/aian.aian_511_23Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiencyRithvik RameshSundar HariharanLatha SundarCoenzyme q10 (CoQ10) deficiency is an extremely uncommon disease that has very rarely been reported in adulthood. This case describes an elderly male with ataxia since adolescence, and visual disturbance since 40, presenting with recurrent episodes of seizures. Imaging revealed stroke-like episodes, with other immune and infective evaluations being negative. He was eventually diagnosed to have Primary CoQ10 deficiency secondary to CoQ8A mutation. This account highlights the challenges in diagnosing and managing primary Coenzyme Q10 deficiency, especially when it presents later in life with atypical features such as stroke-like episodes.http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=6;spage=980;epage=982;aulast=Rameshmitochondrial diseasesprimary coq deficiencystroke like episode |
| spellingShingle | Rithvik Ramesh Sundar Hariharan Latha Sundar Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiency Annals of Indian Academy of Neurology mitochondrial diseases primary coq deficiency stroke like episode |
| title | Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiency |
| title_full | Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiency |
| title_fullStr | Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiency |
| title_full_unstemmed | Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiency |
| title_short | Stroke-Like episodes and epilepsy in a patient with COQ8A-Related coenzyme Q10 deficiency |
| title_sort | stroke like episodes and epilepsy in a patient with coq8a related coenzyme q10 deficiency |
| topic | mitochondrial diseases primary coq deficiency stroke like episode |
| url | http://www.annalsofian.org/article.asp?issn=0972-2327;year=2023;volume=26;issue=6;spage=980;epage=982;aulast=Ramesh |
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