A 32-year-old man was admitted to a local hospital with paroxysmal episodes of unconsciousness for 6 days and had convulsions 2 days ago. The patient also reported suffering from diplopia for 2 months, accompanied by headache, nausea, and vomiting. Lumbar puncture showed a cerebrospinal fluid (CSF) pressure of >330 mmH2O and protein level at 440 mg/dL, CSF WBC count was 1 x 106/L, and CSF color was yellow. The patient was diagnosed with encephalitis and was given antiviral and anti-inflammatory treatments, but there was no significant improvement in his condition. He was later transferred to our hospital for further treatment. His past medical history showed "lumbar disk herniation" for more than 10 years. In the recent 2 months, his symptoms had worsened, accompanied by discomfort in the right lower limb. Respiratory infection and diarrhea were not indicated in the medical history before this disease. Family history showed that the patient's maternal grandfather had a history of tuberculosis 30 years ago, which was cured. The patient's sister had died of intracranial glioma at 6 years of age, and a pathological test was not performed. At the time of admission, the patient was conscious and showed fluent speech, and muscle strength of both upper limbs was grade V and of lower limbs was grade V minus. The Babinski sign was negative bilaterally. Both T-SPOT and PPD tests were positive. A Cranial magnetic resonance imaging (MRI) scan showed diffuse meningeal enhancement caused by infection (Figure 1A). The patient was therefore diagnosed to have tuberculous meningitis. Following admission, he was treated with mannitol and glycerin fructose to reduce intracranial pressure, and anti-tuberculosis treatment was started.
During hospitalization, the patient complained of lower back pain and increased weakness in both lower limbs. On the 7th day, the patient had seizures, and his body temperature increased to 38 C. The patient still has headaches and vomiting. Physical examination showed that the patient was somnolent but arousable to stimulus, had limited abduction of both eyes, had sensitivity to pupillary light reflexes, showed grade IV muscle strength in both the upper limbs, had a stiff neck, showed grade II muscle strength in both the lower limbs, and had hypesthesia of both lower limbs, and the bilateral Babinski sign showed all toes were downgoing. MRI scans of the thoracic and lumbar spinal cord were again performed on the 8th day following hospitalization. The results showed extensive thickening and enhancement of the thoracolumbar spinal meninges (Figure 1B). Electroencephalogram showed increased slow waves in frontal and temporal lobes (Figure 1C). Two lumbar punctures were performed on day 2 and day 7 of hospitalization, and the results showed a significant increase in intracranial pressure and protein level and a decrease in chloride level (Table 1). Acid fast stain and tuberculosis cultures were negative. Though the anti-tuberculosis treatment showed no improvement in the patient's condition, the treatment was continued as his body temperature remained high, up to 38.5 C. The next-generation sequencing of CSF for detecting associated infections and three subsequent lumbar punctures provided no additional diagnostic information (Table 1). After 18 days of anti-infective treatment, the patient's symptoms of high intracranial pressure did not improve, but his body temperature returned to a normal level. The intracranial pressure remained high, with high protein and low chlorine levels. However, we noticed that there was no significant increase in the white blood cell count, and the cytology of the patient's cerebrospinal fluid showed an increase in the number of activated monocytes while malignant cells were not detected (Figure 1D). These results lead us to consider the presence of tumors in the spinal cord. A positron emission tomography-computed tomography (PET-CT) scan was performed, and the results showed multiple hypermetabolic areas scattered in the spinal canal at the level of the T2-L2 vertebral body, thus indicating the possibility of intramedullary tumors with intraspinal metastasis (Figure 1E).
On the 21st day of hospitalization, the patient's condition worsened. He was unconscious, his pupillary reflex disappeared, and he was diagnosed with a cerebral hernia. The patient was medicated to reduce intracranial pressure, and an emergency ventriculoperitoneal shunt was performed. The patient regained consciousness after surgery. On the 27th day, the thoracolumbar MRI scans were re-examined (Figure 1F), showing a significant increase in abnormal intramedullary signals at the thoracic (T) 12-lumbar (L) 1 vertebra level compared to that seen in the first scan. After that, the patient was transferred to the neurosurgery department. On the 35th day of admission, the patient underwent partial resection of space-occupying lesions in the spinal canal at T12-L1 of the vertebral body and spinal nerve adhesion release. The histopathological examination of the neuroepithelial tumor removed from the spinal tissue revealed a malignant tumor. The immunohistochemistry results showed GFAP (+), Oligo-2 (+), H3K27M (+), Ki-67 (+), IDH-1 (-), and EMA (-) (Figure 2). Combined with conventional pathological morphology and immunophenotype, the tumor was consistent with DMG, H3 K27-altered (WHO grade IV). The final diagnosis was DMG, H3 K27-altered. The patient was then transferred to the radiotherapy department and was recommended for local radiotherapy plus temozolomide chemotherapy. After radiotherapy, the patient's consciousness was better than before, and he could answer simple questions correctly. Abduction of both eyes was still limited, and pupillary reflex was found sensitive. His upper limb muscle strength improved, and the patient was discharged after his condition stabilized. No relevant disease assessment was performed during follow-up, and the patient died 6 months after discharge due to disease progression.