case_images: PMC9337940_01
case_images: Disease status prior to intervention with 2CdA. (a) Brain MRI: multiple focal lesions are seen at the subcortical white matter and brainstem (yellow arrows), cerebellum (not shown), and left mesial temporal lobe/amygdala (*) on T2 FLAIR imaging. Enhancing soft tissue is also seen at the pituitary stalk extending into the sella (big red arrow). Additional enhancing nodules (small red arrows) are seen in the brain. Corresponding abnormal FDG uptake (teal arrow) is also demonstrated from a brain image in the whole-body PET-MRI. (b) Whole-body PET MRI: multiple foci of abnormal FDG activity are seen in the neck, including the right thyroid (long teal arrow) and in the mediastinum along the thymic tissues (double teal arrows). Diffuse mucosal thickening of the gastric wall (*) and gallbladder wall (arrowhead) with FDG-avidity also suggested possible XD involvement and/or inflammation. Enlarged and FDG avid portocaval lymph node (yellow arrow) and involvement of the vertebral body (red arrow) were also present.
case_images: CRIPE2022-9906668.001.jpg
case_images: PMC9337940_01_CRIPE2022-9906668.001.jpg
case_images: fig1
case_images: Brain MRI and whole-body positive electron tomography (PET) demonstrated several CNS lesions and a thyroid lesion, and possible gastrointestinal system involvement, with increased metabolic activity (Figure 1).
case_images: XD response to 2CdA on neuroimaging. MRI brain at presentation and comparison imaging after six cycles of 2CdA. Abnormal soft tissue at the pituitary stalk and extending into pituitary tissue has resolved after therapy (red arrows). Note that additional lesions in the supratentorial brain (yellow arrows) have also resolved after therapy.
case_images: CRIPE2022-9906668.002.jpg
case_images: PMC9337940_01_CRIPE2022-9906668.002.jpg
case_images: fig2
case_images: After six cycles, she had no pain of previously involved regions, and her cutaneous lesions greatly improved, with largely only residual post-inflammatory discoloration of face, arms, and intertriginous areas, in addition to resolution of intracranial lesions (Figure 2).
case_images: XD response to 2CdA on physical exam. Physical exam of characteristic involved regions just prior to starting 2CdA (top row). Physical exam of same regions at follow-up visit twenty months off-therapy (bottom row).
case_images: CRIPE2022-9906668.003.jpg
case_images: PMC9337940_01_CRIPE2022-9906668.003.jpg
case_images: fig3
case_images: As of twenty months off-therapy, her skin lesions continue to heal (Figure 3).