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

Serkan Civlan; Cemre Harvey; Duygu Herek; İbrahim Türkçüer; Ramazan Sabirli; Matteo Pellegrini; Aylin Koseler

doi:10.7759/cureus.29937

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

Cureus. 2022 Oct 5;14(10):e29937. doi: 10.7759/cureus.29937. eCollection 2022 Oct.

Authors

Serkan Civlan¹, Cemre Harvey², Duygu Herek³, İbrahim Türkçüer⁴, Ramazan Sabirli⁵, Matteo Pellegrini⁶, Aylin Koseler⁷

Affiliations

¹ Neurosurgery, Pamukkale University Faculty of Medicine, Denizli, TUR.
² Emergency Medicine, Arnavutkoy State Hospital, Istanbul, TUR.
³ Radiology, Pamukkale University Medical Faculty, Denizli, TUR.
⁴ Emergency, Pamukkale University Medical Faculty, Denizli, TUR.
⁵ Emergency, Izmir Bakircay University, Cigli Training and Research Hospital, Izmir, TUR.
⁶ Molecular, Cell and Developmental Biology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, USA.
⁷ Biophysics, Pamukkale University, Denizli, TUR.

Abstract

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.

Keywords: factor v leiden (g1691a); glycoprotein iiia l33p gene; hypertrophic spinal pachymeningitidis; mthfr a1298c; mthfr c677t; pai-1 4g-5g.

Publication types

Case Reports