Progressive Multifocal Leukoencephalopathy in Children with Primary and Secondary Immune Deficiency

Abstract

Progressive multifocal leukoencephalopathy (PML) is a fatal demyelinating disease of the central nervous system that is caused by John Cunningham virus (JCV). It occurs almost exclusively in immunosuppressed individuals, for example, patients with AIDS and hematological and lymphoreticular malignancies. In this article, we present a review of the literature and 2 case reports with PML. The first report examines a 15-year-old male (who presented with dedicator of cytokinesis 8 deficiency) who was diagnosed as having PML based on characteristic magnetic resonance imaging (MRI) lesions and a positive PCR for JCV in cerebrospinal fluid. He was transferred for bone marrow transplantation after stabilization with therapy of maraviroc and cidofovir. The second report examines a 6-year-old male who presented with encephalitis and was also diagnosed with AIDS. He was diagnosed with PML and started treatment with cidofovir. His clinical status and MRI findings deteriorated rapidly. In immunosuppressive patients who developed encephalopathy, JCV ought to be considered.

Keywords: HIV; JCV; progressive multifocal leukoencephalopathy.

FIG. 1.

(a) Radiological findings of case 1. Findings of cranial MRI lesions of a 13-year-old male with primary immune deficiency. Patch lesions in the subcortical deep white matter in both frontoparietal lobes. There are also T2WI flair hyperintense lesions in the right half of the pons, both cerebellar hemispheres. (b) Radiological findings of case 1. A 6-year-old patient with HIV encephalopathy and progressive multifocal leukoencephalopathy; brain MRI from a patient with PML, showing on FLAIR-weighted images and T2-weighted MRI sequences, we can see PV area and subcortical–cortical involvement of the left frontoparietal lobe adjacent to the WM lesion. FLAIR, fluid attenuated inversion recovery; MRI, magnetic resonance imaging; PML, progressive multifocal leukoencephalopathy; PV, periventricular; T2WI, weighted imagine; WM, white matter.