Chen Xue, Li Yi, Bu Hui, Zou YueLi, He JunYing, Liu Hu
Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
Front Neurol. 2023 Jun 15;14:1097157. doi: 10.3389/fneur.2023.1097157. eCollection 2023.
Diffuse midline gliomas, H3 K27-altered are infiltrative growth gliomas with histone H3K27M mutations. This glioma is more common in the pediatric population, and the prognosis is usually poor. We report a case of diffuse midline gliomas, H3 K27-altered in an adult patient that mimicked symptoms of central nervous system infection. The patient was admitted due to double vision for 2 months and paroxysmal unconsciousness for 6 days. Initially, lumbar puncture showed persistent high intracranial pressure, high protein, and low chlorine. Magnetic resonance imaging showed diffuse thickening and enhancement of meninges and spinal meninges, and later, fever occurred. The initial diagnosis was meningitis. We suspected central nervous system infection, so we started anti-infection treatment, but the treatment was ineffective. The patient's condition gradually worsened, with lower limb weakness and even the consciousness became unclear. A repeat magnetic resonance imaging and positron emission tomography-computed tomography scan showed space-occupying lesions in the spinal cord, which was considered a tumor. Following neurosurgery, pathological tests identified the tumor as diffuse midline gliomas, H3 K27-altered. The patient was recommended for radiotherapy and temozolomide chemotherapy. The patient's condition improved after chemotherapy treatment, and he survived for an additional 6 months. Our case shows that diagnosing diffuse midline gliomas, H3 K27-altered in the central nervous system is complex and can be confused with the clinical characteristics of central nervous system infection. Therefore, clinicians should pay attention to such diseases to avoid misdiagnosis.
H3 K27改变的弥漫性中线胶质瘤是具有组蛋白H3K27M突变的浸润性生长胶质瘤。这种胶质瘤在儿童人群中更为常见,预后通常较差。我们报告一例成年患者的H3 K27改变的弥漫性中线胶质瘤,其表现出中枢神经系统感染的症状。该患者因复视2个月和阵发性昏迷6天入院。最初,腰椎穿刺显示持续高颅内压、高蛋白和低氯。磁共振成像显示脑膜和脊髓脑膜弥漫性增厚和强化,随后出现发热。初步诊断为脑膜炎。我们怀疑中枢神经系统感染,因此开始抗感染治疗,但治疗无效。患者病情逐渐恶化,出现下肢无力,甚至意识不清。重复磁共振成像和正电子发射断层扫描计算机断层扫描显示脊髓有占位性病变,考虑为肿瘤。神经外科手术后,病理检查确定肿瘤为H3 K27改变的弥漫性中线胶质瘤。建议患者进行放疗和替莫唑胺化疗。化疗治疗后患者病情好转,又存活了6个月。我们的病例表明,诊断中枢神经系统中H3 K27改变的弥漫性中线胶质瘤很复杂,可能与中枢神经系统感染的临床特征相混淆。因此,临床医生应注意此类疾病,避免误诊。