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Progressive multifocal leukoencephalopathy as the first presentation of sarcoidosis
1Neurology, The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK mmelbadri@hotmail.com.
Abstract:
Recognition of progressive multifocal leukoencephalopathy (PML) in patients with an established primary neuroinflammatory condition can be clinically challenging. Delayed or incorrect diagnosis may worsen the course of the disease and result in an inaccurate prognosis. We present an unusual case of a patient with a rapid decline in visual acuity, positive serum ACE and extensive lymphadenopathy who was found to have progressive subcortical lesions and cerebrospinal fluid PCR positive for John Cunningham virus supporting a coincidental diagnosis of PML. The prognosis of PML is affected by the associated condition. Establishing the diagnosis is important for an exact prognosis of the primary condition but also to allow early discontinuation of immunomodulatory treatment. Sarcoidosis-associated PML might have a similar aggressive course to that seen when associated with haematological malignancies.
Insights
Diagnosing progressive multifocal leukoencephalopathy (PML) in neuroinflammatory patients is challenging. This case highlights PML co-occurring with sarcoidosis, impacting prognosis and treatment decisions.
Area of Science:
- Neuroimmunology
- Infectious Neurology
- Oncology
Background:
- Diagnosing progressive multifocal leukoencephalopathy (PML) in patients with pre-existing neuroinflammatory conditions presents significant clinical challenges.
- Delayed or inaccurate diagnosis of PML can lead to disease progression and erroneous prognoses for both PML and the primary condition.
Observation:
- An unusual case involved a patient experiencing rapid visual decline, elevated serum angiotensin-converting enzyme (ACE), and lymphadenopathy.
- The patient presented with progressive subcortical lesions and cerebrospinal fluid (CSF) positive for John Cunningham virus (JCV).
Findings:
- The findings support a coincidental diagnosis of PML in a patient with sarcoidosis.
- The presence of John Cunningham virus (JCV) in CSF confirmed PML.
- Sarcoidosis-associated PML demonstrated an aggressive clinical course, comparable to PML associated with hematological malignancies.
Implications:
- Accurate diagnosis of PML is crucial for establishing a precise prognosis of the primary condition, such as sarcoidosis.
- Early PML diagnosis enables timely discontinuation of potentially harmful immunomodulatory treatments.
- This case underscores the importance of considering coincidental PML in neuroinflammatory diseases, especially when clinical presentation is atypical.
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