Central Nervous System Xanthoma Disseminatum: Response to 2CdA in an Adolescent

Abstract

Xanthoma disseminatum is a normolipemic non-Langerhans cell histiocytosis characterized by red-brown rubbery papules of the skin which coalesce into plaque-like lesions with symmetric involvement of face, flexor, and intertriginous areas. Less commonly, xanthoma disseminatum may affect mucosal linings, abdominal organs, and the central nervous system, leading to endocrinopathies. We report a 12-year-old adolescent with mucosal, central nervous system, and painful cutaneous lesions, further complicated by diabetes insipidus and amenorrhea. Treatment with 2-chlorodeoxyadenosine led to relief of pain and significant improvement of mucosal, central nervous system, and cutaneous lesions, with subsequent restoration of menstrual cycles.

Figure 1

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.

Figure 2

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.

Figure 3

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).