Progressive multifocal leukoencephalopathy in an HIV-infected child

Area of Science:

• Neurology
• Infectious Diseases
• Virology

Background:

• Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disease caused by the JC virus, primarily affecting immunocompromised individuals, particularly those with advanced HIV/AIDS.
• PML is exceptionally uncommon in pediatric populations, making pediatric cases noteworthy for understanding disease presentation and progression.

Observation:

• A 15-year-old HIV-infected male presented with progressive neurological symptoms including fatigue, apathy, head tilt, diplopia, motor apraxia, and unsteady gait.
• Cerebrospinal fluid analysis confirmed the presence of JC virus DNA, and Magnetic Resonance Imaging (MRI) revealed a large, non-enhancing lesion in the right cerebellar hemisphere and middle cerebellar peduncle.

Findings:

• The patient's condition rapidly deteriorated, with MRI demonstrating lesion progression within two weeks.
• Autopsy confirmed widespread PML lesions in the cerebellar hemispheres and brainstem, consistent with the JC virus infection.

Implications:

• This case underscores the possibility of PML in young, HIV-infected patients, even with atypical lesion localization and unifocal onset.
• Early diagnosis through MRI and JC virus DNA detection in CSF is crucial for initiating timely management, primarily immune reconstitution therapy.
• The unusual presentation in this pediatric case contributes to the understanding of JC virus pathogenesis and PML in the context of pediatric HIV infection.