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Brain astrocytoma misdiagnosed as anti-NMDAR encephalitis: a case report
Jie Lu1, Ji-Hong Zhang1, Ai-Liang Miao1
1Department of Neurology, the Affiliated Brain Hospital of Nanjing Medical University, Nanjing, Jiangsu, 210029, People's Republic of China.
Background:
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, which is the most common type of autoimmune encephalitis, is caused by the production of autoantibodies against NMDA receptor. Anti-NMDAR encephalitis patients present with various non-specific symptoms, such as abnormal psychiatric or behaviour, speech dysfunction, cognitive dysfunction, seizures, movement disorders, decreased level of consciousness, and central hypoventilation or autonomic dysfunction.
Case Presentation:
A 67-year-old man presented with new-onset focal seizures. The brain magnetic resonance imaging (MRI) plain scan and enhanced scan showed abnormal signal on the proximal midline frontoparietal junction region. Anti-NMDAR antibody was detected in cerebrospinal fluid (CSF) and serum using a commercial kit (Euroimmune, Germany) by indirect immunofluorescence testing (IIFT) according to the manufacturer's instructions for twice. Both of the test results were positive in CSF and serum. The patient was diagnosed as anti-NMDAR encephalitis and then was treated repeatedly with large dose of intravenous corticosteroids and gamma globulin. Accordingly, the refractory nature of seizures in this case may be attributed to NMDAR autoantibodies. When the patient presented at the hospital for the third time, the brain MRI revealed an increase in the size of the frontal parietal lesion and one new lesion in the left basal ganglia. The patient underwent a surgical biopsy and astrocytoma was confirmed by histopathology.
Conclusions:
Although the sensitivity and specificity of anti-NMDAR-IgG antibodies in CSF to diagnose anti-NMDAR encephalitis are close to 100%, it is not absolute. Anti-NMDAR antibodies were positive, which might make the diagnosis more complex. The diagnosis of atypical presentation of anti-NMDAR encephalitis requires reasonable exclusion of other disorders.
Insights
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis can present with complex symptoms, even when anti-NMDAR antibodies are detected. This case highlights the importance of excluding other conditions, like astrocytoma, in atypical presentations.
Area of Science:
- Neurology
- Immunology
- Oncology
Background:
- Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a common autoimmune disorder caused by antibodies targeting NMDA receptors.
- Patients exhibit diverse, non-specific symptoms including psychiatric changes, seizures, and autonomic dysfunction.
Observation:
- A 67-year-old man presented with new-onset focal seizures and MRI findings of abnormal signals in the frontoparietal junction.
- Anti-NMDAR antibodies were positive in both cerebrospinal fluid (CSF) and serum, leading to a diagnosis of anti-NMDAR encephalitis.
- Despite treatment with corticosteroids and gamma globulin, MRI showed lesion progression, and a biopsy revealed astrocytoma.
Findings:
- The presence of anti-NMDAR antibodies, while indicative, may not be absolute for diagnosis, complicating atypical cases.
- Refractory seizures in this patient were potentially linked to NMDAR autoantibodies.
- Histopathological confirmation of astrocytoma in conjunction with positive anti-NMDAR antibodies presented a complex diagnostic scenario.
Implications:
- Diagnosing atypical anti-NMDAR encephalitis requires careful exclusion of other potential underlying conditions, such as tumors.
- This case underscores the need for comprehensive diagnostic approaches when faced with complex neurological presentations and positive autoantibody findings.
- Further research is needed to understand the interplay between autoimmune encephalitis and neoplastic processes.
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