Figure 1.
Panel A: Two axial brain MRI scans showing multiple hyperintense cortical and subcortical lesions. Panel B: Four histological microscopy images from brain pathology. The first image on the left shows a hematoxylin and eosin stain with a circled area highlighting cellular detail. The next three images show immunohistochemical stains for TP53, Ki-67, and SV40, each with a circled area indicating specific staining patterns. Panel C: A line graph tracking RBC percent dAXP and RBC ADA activity over time. The x-axis represents age in years, months, and days, while the y-axis on the left shows RBC percent dAXP and the y-axis on the right shows RBC ADA activity in nanomoles per hour per milligram. The blue line represents RBC percent dAXP, and the red line represents RBC ADA activity. Key events such as gene therapy initiation, ADA ERT initiation and discontinuation, and PML diagnosis are marked on the graph.
Brain MRI, brain biopsy, and longitudinal biochemical monitoring in this patient with ADA-SCID who developed progressive multifocal leukoencephalopathy.