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A Hypertrophic Spinal Pachymeningitis Patient With Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, PAI-1 4G-5G, Glycoprotein IIIa L33P Gene Mutations.

التفاصيل البيبلوغرافية
العنوان: A Hypertrophic Spinal Pachymeningitis Patient With Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, PAI-1 4G-5G, Glycoprotein IIIa L33P Gene Mutations.
المؤلفون: Civlan S; Neurosurgery, Pamukkale University Faculty of Medicine, Denizli, TUR., Harvey C; Emergency Medicine, Arnavutkoy State Hospital, Istanbul, TUR., Herek D; Radiology, Pamukkale University Medical Faculty, Denizli, TUR., Türkçüer İ; Emergency, Pamukkale University Medical Faculty, Denizli, TUR., Sabirli R; Emergency, Izmir Bakircay University, Cigli Training and Research Hospital, Izmir, TUR., Pellegrini M; Molecular, Cell and Developmental Biology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, USA., Koseler A; Biophysics, Pamukkale University, Denizli, TUR.
المصدر: Cureus [Cureus] 2022 Oct 05; Vol. 14 (10), pp. e29937. Date of Electronic Publication: 2022 Oct 05 (Print Publication: 2022).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Palo Alto, CA : Cureus, Inc.
مستخلص: Hypertrophic pachymeningitis (HP) is a rare clinical entity of diverse etiology, characterized by a chronic inflammation that causes dura thickening. Reports of Idiopathic hypertrophic cranial pachymeningitis (IHCP) were related to infections, trauma, tumors, and rheumatologic conditions. It was first described by Charcot and Joffroy regarding spinal meninges in 1869. HP has three stages; progressive radicular symptoms begin first, then muscle weakness and atrophy start. Findings such as paraplegia, loss of bladder and bowel control, and respiratory distress caused by intercostal and diaphragmatic denervation are considered the third stage of the disease. Especially in the cranial form of the disease, nerve ischemia and various cranial neuropathic findings may occur. Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, and PAI-1 4G-5G gene mutation analysis were measured with an ABI Prism. In this case report, the authors present a case of hypertrophic mutations pachymeningitis with Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, PAI-1 4G-5G, Glycoprotein IIIa L33P gene. In conclusion, we report a case of HP with Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, PAI-1 4G-5G, and Glycoprotein IIIa L33P gene mutations. We emphasize that the identification of pachymeningitis can be easily bypassed with the application of limited laboratory techniques. As in this case report, we think that these mutations should be analyzed in patients diagnosed with pachymeningitis.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2022, Civlan et al.)
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فهرسة مساهمة: Keywords: factor v leiden (g1691a); glycoprotein iiia l33p gene; hypertrophic spinal pachymeningitidis; mthfr a1298c; mthfr c677t; pai-1 4g-5g
تواريخ الأحداث: Date Created: 20221109 Latest Revision: 20221110
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9634853
DOI: 10.7759/cureus.29937
PMID: 36348907
قاعدة البيانات: MEDLINE
الوصف
تدمد:2168-8184
DOI:10.7759/cureus.29937