Panels A to E (4 years old) shows axial brain M R I scans showing multifocal lesions in different regions, highlighted by arrows, with varying signal intensities. Panel F to J (4 years old) shows additional M R I sequences demonstrating progression and distribution of abnormal white matter changes and cortical involvement. Panel K to O (4 years 10 months old) shows follow-up M R I s revealing the evolution of lesions over time, with persistent and newly developed affected areas. Panel P shows flow cytometry histograms comparing stimulated and unstimulated cells, showing an altered cellular response in the patient versus the control. Panel Q shows flow cytometry histograms of cytochrome b 558 expression in control, patient, father, and mother, indicating reduced expression in the patient. Panel R shows D N A sequencing electropherogram identifying a c.877 C greater than T (p.Q 293 asterisk) mutation in the patient, with carrier status in the mother and wild type in the control.
Parasitic infection in a patient with complete gp91 phox deficiency. Left to right: Brain MRI sequences of axial slices in unenhanced T1, T1 with contrast, diffusion ADC (apparent diffusion coefficient), FLAIR, and T2-weighted images. (A–E) At the level of the brainstem, the presence of two amebiasis brain abscesses in the temporal lobe/cerebrum with abnormal tissue enhancement on the T1 without injection (A) compared with postcontrast T1-weighted images (B) associated with significant edema all around the abscess and hypointense collections with low ADC (C) suggesting cytotoxic edema and abnormal FLAIR (D) and T2 (E). (F–J) Presence of one abscess with the same characteristics in the cerebral cortex: abnormal heterogeneous enhancement on postcontrast T1-weighted images (G) compared to the T1 without injection (F) with hypointense collection with low ADC (H) and an abnormal FLAIR (I) and T2 (J) with significant edema all around the abscess. (K–O) Radiological improvement after treatment is demonstrated by arrows. There is no longer any contrast enhancement (L) compared to T1 without injection (K), and the ADC is increased (M). Sequelae of the abscess with cortico-subcortical atrophy on flair (N) and T2 (O) in place of the abscess in the two temporal lobes. (P) DHR oxidation test on PMNs from fresh peripheral blood obtained from the healthy control and the patient. 100% of DHR was oxidized after the stimulation of control PMNs with PMA, leading to a fluorescent signal in the FITC channel. The DHR remained nonfluorescent after the stimulation of PMNs from the patient. (Q) Cytochrome b558 expression on PMNs from a healthy control, the patient, and his relatives (M: c.877C>T; WT: wild-type). (R) Electropherogram for the patient, his mother, and a healthy control.