Liu Qinghao, Zhao Weiwen, Yin Hao
Department of Orthopedic, The First Affiliated Hospital of Hunan Normal University Hunan Provincial People's Hospital, Changsha, China Mainland (PRC).
Int Med Case Rep J. 2024 May 3;17:401-407. doi: 10.2147/IMCRJ.S459679. eCollection 2024.
Spontaneous spinal epidural hematoma (SSEH) presenting in the context of JAK2 V617F-positive myeloproliferative neoplasms is a rare condition, characterized by the compression of the spinal cord leading to various symptoms. The etiology, pathogenesis, and optimal treatment strategies for this condition remain undetermined. The occurrence of spontaneous spinal epidural hematoma (SSEH) in the context of JAK2 V617F-positive myeloproliferative neoplasms (MPNs) represents a rare manifestation. Magnetic Resonance Imaging (MRI) plays a crucial role in the definitive diagnosis of this condition. With a good understanding of the pathogenic characteristics and clinical presentations of this disease, a diagnosis can be reasonably made, even in the absence of MRI, based on physical examinations indicating the affected area. Once diagnosed, immediate surgery is recommended to attempt the restoration of spinal cord function. Postoperatively, the use of hydroxyurea has proven effective in disease control.
We report a case of a 65-year-old male patient who presented with progressive lumbar back pain and bilateral lower limb paralysis lasting for 36 hours. CT imaging revealed an intraspinal lesion at the L1-3 level, and genetic testing confirmed the presence of the JAK2V617F mutation. Following surgery, there was a significant recovery of sensory and motor function in the lower limbs. At one-year follow-up, the patient demonstrated good functional status, and blood tests indicated a platelet count within the normal range.
The presented case adds to the existing literature on SSEH by highlighting the association with myeloproliferative neoplasms (MPNs), as evidenced by the JAK2V617F mutation. MPNs constitute a group of hematologic malignancies, and the association with SSEH is a rare occurrence. The exact interplay between MPNs and SSEH warrants further investigation, as the underlying mechanisms linking these conditions remain elusive. The case also underscores the importance of a multidisciplinary approach, involving hematologists and neurosurgeons, in the comprehensive management of such complex cases.
JAK2 V617F 阳性骨髓增殖性肿瘤患者出现的自发性脊髓硬膜外血肿（SSEH）是一种罕见病症，其特征为脊髓受压导致各种症状。该病症的病因、发病机制及最佳治疗策略仍未明确。JAK2 V617F 阳性骨髓增殖性肿瘤（MPNs）患者出现自发性脊髓硬膜外血肿（SSEH）是一种罕见表现。磁共振成像（MRI）在该病症的明确诊断中起着关键作用。充分了解该疾病的致病特征和临床表现后，即使没有 MRI，基于提示受累区域的体格检查也可合理做出诊断。一旦确诊，建议立即手术以尝试恢复脊髓功能。术后，使用羟基脲已证明对疾病控制有效。
我们报告一例 65 岁男性患者，其出现进行性腰痛和双侧下肢瘫痪持续 36 小时。CT 成像显示 L1 - 3 水平有脊髓内病变，基因检测证实存在 JAK2V617F 突变。手术后，下肢感觉和运动功能有显著恢复。在一年随访时，患者功能状态良好，血液检查显示血小板计数在正常范围内。
该病例通过突出与骨髓增殖性肿瘤（MPNs）的关联（如 JAK2V617F 突变所证明），为关于 SSEH 的现有文献增添了内容。MPNs 构成一组血液系统恶性肿瘤，与 SSEH 的关联是罕见情况。MPNs 与 SSEH 之间的确切相互作用值得进一步研究，因为连接这些病症的潜在机制仍不清楚。该病例还强调了多学科方法（涉及血液学家和神经外科医生）在这类复杂病例综合管理中的重要性。
