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Adult spinal cord diffuse midline glioma, H3 K27-altered mimics symptoms of central nervous system infection: a case
1Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.
Abstract:
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.
Insights
Diffuse midline gliomas, H3 K27-altered, a rare adult cancer, can mimic central nervous system infections. Early diagnosis is crucial for effective treatment of this aggressive brain tumor.
Area of Science:
- Neuro-oncology
- Pathology
Background:
- Diffuse midline gliomas, H3 K27-altered, are aggressive brain tumors characterized by histone H3K27M mutations.
- While more common in pediatric patients, they can occur in adults with a typically poor prognosis.
Observation:
- An adult patient presented with symptoms mimicking central nervous system infection, including double vision and altered consciousness.
- Initial diagnostics revealed high intracranial pressure and meningeal enhancement, leading to a suspected meningitis diagnosis.
- Treatment for infection was ineffective, and the patient's condition worsened, prompting further investigation.
Findings:
- Advanced imaging (MRI, PET-CT) identified space-occupying spinal cord lesions.
- Neurosurgery and pathological examination confirmed diffuse midline gliomas, H3 K27-altered.
- The patient received radiotherapy and temozolomide chemotherapy, showing clinical improvement and survival for an additional 6 months.
Implications:
- This case highlights the diagnostic challenges of diffuse midline gliomas, H3 K27-altered, in adults, emphasizing their potential to mimic CNS infections.
- Increased clinical awareness is necessary to prevent misdiagnosis and ensure timely, appropriate management of these rare tumors.

