دورية أكاديمية
Antithrombin deficiency caused by SERPINC1 gene mutation in white matter lesions: A case report.
| العنوان: | Antithrombin deficiency caused by SERPINC1 gene mutation in white matter lesions: A case report. |
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| المؤلفون: | Wang S; Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China., He R; Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China., Xia J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China.; Clinical Research Center for Cerebrovascular Disease of Hunan Province, Xiangya Hospital, Central South University, Changsha, People's Republic of China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, People's Republic of China., Gu W; Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China.; Clinical Research Center for Cerebrovascular Disease of Hunan Province, Xiangya Hospital, Central South University, Changsha, People's Republic of China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, People's Republic of China., Li J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China., Yang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China., Huang Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China.; Clinical Research Center for Cerebrovascular Disease of Hunan Province, Xiangya Hospital, Central South University, Changsha, People's Republic of China.; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, People's Republic of China. |
| المصدر: | Medicine [Medicine (Baltimore)] 2024 Apr 05; Vol. 103 (14), pp. e37721. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins |
| مواضيع طبية MeSH: | White Matter*/diagnostic imaging , White Matter*/pathology , Foramen Ovale, Patent*/pathology , Antithrombin III Deficiency*/complications , Antithrombin III Deficiency*/genetics , Antithrombin III Deficiency*/pathology , Vascular Diseases*/pathology , Nervous System Diseases*/pathology , Multiple Sclerosis*/diagnosis, Male ; Humans ; Adult ; Antithrombin III/genetics ; Brain/pathology ; Magnetic Resonance Imaging/methods ; Headache ; Mutation ; Antithrombins |
| مستخلص: | Rationale: White matter lesions (WMLs) are structural changes in the brain that manifest as demyelination in the central nervous system pathologically. Vasogenic WMLs are the most prevalent type, primarily associated with advanced age and cerebrovascular risk factors. Conversely, immunogenic WMLs, typified by multiple sclerosis (MS), are more frequently observed in younger patients. It is crucial to distinguish between these 2 etiologies. Furthermore, in cases where multiple individuals exhibit WMLs within 1 family, genetic testing may offer a significant diagnostic perspective. Patient Concerns: A 25-year-old male presented to the Department of Neurology with recurrent headaches. He was healthy previously and the neurological examination was negative. Brain magnetic resonance imaging (MRI) showed widespread white matter hyperintensity lesions surrounding the ventricles and subcortical regions on T2-weighted and T2 fluid-attenuated inversion recovery images, mimicking immunogenic disease-MS. Diagnoses: The patient was diagnosed with a patent foramen ovale, which could explain his headache syndrome. Genetic testing unveiled a previously unidentified missense mutation in the SERPINC1 gene in the patient and his father. The specific abnormal laboratory finding was a reduction in antithrombin III activity, and the decrease may serve as the underlying cause for the presence of multiple intracranial WMLs observed in both the patient and his father. Interventions: The patient received percutaneous patent foramen ovale closure surgery and took antiplatelet drug recommended by cardiologists and was followed up for 1 month and 6 months after operation. Outcomes: While the lesions on MRI remain unchanging during follow-up, the patient reported a significant relief in headaches compared to the initial presentation. Lessons: This case introduces a novel perspective on the etiology of cerebral WMLs, suggesting that hereditary antithrombin deficiency (ATD) could contribute to altered blood composition and may serve as an underlying cause in certain individuals with asymptomatic WMLs. Competing Interests: The authors have no conflicts of interest to disclose. (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.) |
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| المشرفين على المادة: | 9000-94-6 (Antithrombin III) 0 (Antithrombins) 0 (SERPINC1 protein, human) |
| تواريخ الأحداث: | Date Created: 20240405 Date Completed: 20240408 Latest Revision: 20240506 |
| رمز التحديث: | 20240506 |
| مُعرف محوري في PubMed: | PMC10994456 |
| DOI: | 10.1097/MD.0000000000037721 |
| PMID: | 38579030 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1536-5964 |
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| DOI: | 10.1097/MD.0000000000037721 |