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Intramedullary tuberculoma mimicking primary CNS lymphoma
A A Mohit1, P Santiago, R Rostomily
1Department of Neurological Surgery, University of Washington School of Medicine, Seattle, USA. abmohit@u.washington.edu
Insights
Primary central nervous system lymphoma (PCNSL) diagnosis in AIDS patients using Epstein-Barr virus (EBV) PCR assays can lead to misdiagnosis. Histological confirmation is crucial before initiating therapy to avoid incorrect treatment for conditions like tuberculoma.
Area of Science:
- Neuro-oncology
- Infectious Diseases
- Diagnostic Pathology
Background:
- Primary central nervous system lymphoma (PCNSL) incidence is increasing in immunocompromised individuals, notably those with acquired immune deficiency syndrome (AIDS).
- Cerebrospinal fluid (CSF) Epstein-Barr virus (EBV) PCR assays have become a primary diagnostic tool for PCNSL, often supplanting traditional methods like CNS biopsy due to high reported sensitivity and specificity.
Observation:
- A patient with a history of C3 AIDS presented with neurological symptoms including lower extremity weakness and myelopathy.
- Initial diagnosis of intramedullary PCNSL was made based on the detection of EBV DNA in the CSF.
Findings:
- The patient did not respond to radiotherapy, prompting further investigation.
- A subsequent spinal cord biopsy revealed an intramedullary tuberculoma, indicating a misdiagnosis based on the CSF EBV PCR assay.
Implications:
- This case highlights the potential for misdiagnosis when relying solely on CSF EBV PCR assays for PCNSL in immunocompromised patients.
- Emphasizes the critical importance of histological confirmation of lesions before commencing treatment to ensure accurate diagnosis and appropriate therapy, especially in cases of suspected PCNSL.
- Underscores the need for a comprehensive diagnostic approach, integrating molecular assays with histopathology, particularly in complex cases within the context of immunodeficiency syndromes.
Abstract:
The incidence of primary central nervous system lymphoma (PCNSL) has been on the rise in the setting of immunodeficiency syndromes such as acquired immune deficiency syndrome (AIDS). Its diagnosis has been facilitated by the advent of a cerebrospinal fluid (CSF) Epstein-Barr virus (EBV) PCR assay. The reported high sensitivity and specificity of this assay has made it the cornerstone of diagnosis of PCNSL, replacing more traditional methods such as an open CNS biopsy. Here, we have described a patient with a known history of C3 AIDS presenting with lower extremity weakness and eventual myelopathy who was later diagnosed as having intramedullary PCNSL after detection of EBV DNA in his CSF. After failing to respond to radiotherapy, he underwent a spinal cord biopsy revealing intramedullary tuberculoma. This case illustrates the risk of misdiagnosis with this assay and the importance of histological confirmation of a pathological lesion prior to implementation of therapy.
