Civlan Serkan, Harvey Cemre, Herek Duygu, Türkçüer İbrahim, Sabirli Ramazan, Pellegrini Matteo, Koseler Aylin
Neurosurgery, Pamukkale University Faculty of Medicine, Denizli, TUR.
Emergency Medicine, Arnavutkoy State Hospital, Istanbul, TUR.
Cureus. 2022 Oct 5;14(10):e29937. doi: 10.7759/cureus.29937. eCollection 2022 Oct.
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.
肥厚性硬脑膜炎（HP）是一种病因多样的罕见临床病症，其特征为导致硬脑膜增厚的慢性炎症。特发性肥厚性硬脑膜炎（IHCP）的报告与感染、创伤、肿瘤及风湿性疾病有关。1869年，夏科和若弗鲁瓦首次描述了脊髓硬脑膜的这种病症。HP有三个阶段；首先出现进行性神经根症状，随后开始出现肌肉无力和萎缩。截瘫、膀胱和肠道控制丧失以及肋间神经和膈神经失神经支配引起的呼吸窘迫等表现被认为是该疾病的第三阶段。尤其是在该疾病的头颅型中，可能会出现神经缺血和各种颅神经病变表现。使用ABI Prism对凝血因子V莱顿（G1691A）、亚甲基四氢叶酸还原酶C677T、亚甲基四氢叶酸还原酶A1298C和纤溶酶原激活物抑制剂-1 4G-5G基因突变进行分析。在本病例报告中，作者呈现了一例伴有凝血因子V莱顿（G1691A）、亚甲基四氢叶酸还原酶C677T、亚甲基四氢叶酸还原酶A1298C、纤溶酶原激活物抑制剂-1 4G-5G、糖蛋白IIIa L33P基因突变的肥厚性硬脑膜炎病例。总之，我们报告了一例伴有凝血因子V莱顿（G1691A）、亚甲基四氢叶酸还原酶C677T、亚甲基四氢叶酸还原酶A1298C、纤溶酶原激活物抑制剂-1 4G-5G和糖蛋白IIIa L33P基因突变的HP病例。我们强调，应用有限的实验室技术可能容易忽略肥厚性硬脑膜炎的诊断。如本病例报告所示，我们认为对于诊断为硬脑膜炎的患者应分析这些基因突变。
