A hypertrophic spinal pachymeningitis patient with Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, PAI- 1 4G-5G, Glycoprotein IIIa L33P gene mutations

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dc.authoridKöseler, Aylin/0000-0003-4832-0436
dc.authorwosidKöseler, Aylin/C-5030-2012
dc.contributor.authorCivlan, Serkan
dc.contributor.authorHarvey, Cemre
dc.contributor.authorHerek, Duygu
dc.contributor.authorTürkçüer, İbrahim
dc.contributor.authorSabırlı, Ramazan
dc.contributor.authorPellegrini, Matteo
dc.contributor.authorKöseler, Aylin
dc.date.accessioned2023-03-22T19:47:19Z
dc.date.available2023-03-22T19:47:19Z
dc.date.issued2022
dc.departmentBelirleneceken_US
dc.description.abstractHypertrophic 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.en_US
dc.identifier.doi10.7759/cureus.29937
dc.identifier.issn2168-8184
dc.identifier.issue10en_US
dc.identifier.pmid36348907en_US
dc.identifier.urihttps://doi.org/10.7759/cureus.29937
dc.identifier.urihttps://hdl.handle.net/20.500.14034/617
dc.identifier.volume14en_US
dc.identifier.wosWOS:000891978600036en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherCureus Incen_US
dc.relation.journalCureus Journal Of Medical Scienceen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectglycoprotein iiia l33p geneen_US
dc.subjectpai-1 4g-5gen_US
dc.subjectmthfr a1298cen_US
dc.subjectmthfr c677ten_US
dc.subjectfactor v leiden (g1691a)en_US
dc.subjecthypertrophic spinal pachymeningitidisen_US
dc.subjectHomocysteineen_US
dc.subjectPolymorphismen_US
dc.titleA hypertrophic spinal pachymeningitis patient with Factor V Leiden (G1691A), MTHFR C677T, MTHFR A1298C, PAI- 1 4G-5G, Glycoprotein IIIa L33P gene mutationsen_US
dc.typeArticleen_US

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