Progressive Multifocal Leukoencephalopathy (PML)

 

Etiology:

- Multifocal demyelinating lesions of CNS

- Due to reactivation of JC virus (papovavirus)

- 90% of general population have serological evidence of JC virus infection which is benign / asymptomatic

- PML occurs in association with immunosuppression (esp HIV / AIDS), leukemia, lymphoma

- The incidence of PML dramatically rose in the 1980’s with AIDs

- Up to 4% of patients with AIDs develop PML at some point during disease

- The incidence of PML has NOT changed with introduction of HAART (highly active antiretroviral therapy)

- JC virus infects oligodendrocytes, leading to lysis and demyelination

 

 

Clinical Presentation:

- Insidious subacute onset over months

- Confusion / cognitive dysfunction

- Behavioural change and / or personality change

- Focal neurological deficits depending on location of lesions which may include hemiparesis, sensory disturbance, aphasia

- Usually no headache or fever

 

Pathology:

- Multifocal demyelination, patchy to confluent

- Hyperchromic enlarged oligodendroglial nuclei containing characteristic viral intranuclear inclusions by electron microscopy

- Bizarre astrocytes with lobulated hyperchromatic nuclei, can simulate astrocytoma

 

Investigations

CT / MRI

- White matter lesions, may involve gray

- "Scalloped" appearance, may affect U-fibres

- Multiple, bilateral lesions or confluent

- No or little mass effect / edema

- Hypodense lesions on CT

- Hypointense on T1, hyperintense on T2

- Usually not enhancing (may get mild enhancement with “immune reconstitution”)

 

Cell count

- Usually severe cellular immunsuppression with CD4<200

- Subset (7-25%) may develop PML with CD4 >200

 

 

CSF

- WBC<20, protein normal or <200, may have low glucose

- PCR for JC virus DNA 80% sensitivity, 95% specificity

 

 

Brain Biopsy

- Definitive diagnosis

- Note: brain biopsy may be non-diagnostic in 4-36%

 

Prognosis:

- Fatal with median 6 months

- 8-10% survive > 12 mo. and have spontaneous recovery of neurological function

- Survival may be ameliorated by HAART in PML associated with AIDs

- Prognostic factors for longer survival:  HAART, high CD4 at diagnosis, increase of CD4, low HIV load, low JC virus level, lack of progression at 2 months

 

Treatment:

- No effective treatment

- Anedoctal evidence that HAART treatment may prolong survival in PML associated with AIDs

- Experimental treatments: ara-C, IFN-g, captothecin, antisense nucleotides, cidofovir, topotecan

 

References:

J. Neurovirol. 9:205-221, 2003

J. Neurovirol. 8:158-167, 2002

CID 34:103-115, 2002

Semin. in Neurol. 19:193-200, 1999

HIV In-Site (http://hivinsite.ucsf.edu/)

 

Last update: September 30, 2003

Reviewed by: pending review

                                                           

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