Diffuse Midline Glioma, H3K27M-mutant Subtype, Confused for Viral Encephalitis: A Case Report

Weidong Yang, Cong Fu, Yiyao Cao, Zhi-juan Chen, Qing Yu
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Abstract

The diffuse midline glioma, H3K27M-mutant subtype, occurs mainly in children as a result of mutations in the histone H3 (H3F3A) and HIST1H3B (K27M) genes and is characterized by diffuse tumor growth in central nervous system (CNS) midline structures. Due to its nonspecific clinical manifestations, viral encephalitis is often confused with other central nervous system diseases. In this case, we reported a young male patient who was admitted to the hospital chiefly complaining of “diplopia for more than two months and aggravated walking instability for more than 10 days”. After admission, relevant patient blood and cerebrospinal fluid (CSF) tests were completed, and no obvious abnormalities were found. Chest CT suggested pulmonary infection; magnetic resonance imaging (MRI) and contrast-enhanced CT, PET-CT and other imaging examinations of the head all indicated a high possibility of viral encephalitis. Symptoms of fever were improved in the patient after treatment with antiviral therapy and anti-infection therapy. However, symptoms of neurological function loss, such as double vision and adverse right limb movement, persisted. Finally, stereotactic biopsies of deep brain lesions were carried out and sent to the pathology department, which led to a diagnosis of diffuse midline glioma, H3K27M-mutant subtype (WHO IV). His family chose to perform conservative treatment in another hospital, and the patient died four months later. To conclude, when clinical symptoms of suspected viral encephalitis appear in the course of diffuse midline glioma, it can result in confusion regarding clinical diagnosis and treatment. Clinicians should ensure proper early recognition and identification of the disease.
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弥漫性中线胶质瘤,h3k27m突变亚型,与病毒性脑炎混淆:1例报告
弥漫性中线胶质瘤是h3k27m突变亚型,主要发生在儿童中,是组蛋白H3 (H3F3A)和HIST1H3B (K27M)基因突变的结果,其特征是肿瘤在中枢神经系统(CNS)中线结构中弥漫性生长。由于其非特异性临床表现,病毒性脑炎常与其他中枢神经系统疾病混淆。在本病例中,我们报告了一名年轻男性患者入院,主要主诉为“复视超过两个月,行走不稳加重超过10天”。入院后完成患者相关血液及脑脊液检查,未见明显异常。胸部ct提示肺部感染;头部核磁共振、增强CT、pet -CT等影像学检查提示病毒性脑炎的可能性较大。经抗病毒治疗和抗感染治疗后,患者发热症状得到改善。然而,神经功能丧失的症状,如重视和右侧肢体运动不良,持续存在。最后行脑深部病变立体定向活检并送至病理性科,诊断为弥漫性中线胶质瘤,h3k27m突变亚型(WHO IV),其家人选择在另一家医院保守治疗,患者4个月后死亡。总之,弥漫性中线胶质瘤病程中出现疑似病毒性脑炎的临床症状时,极易造成临床诊断和治疗的混乱。临床医生应确保适当的早期识别和鉴定疾病。
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