Cerebrocutaneous Xanthoma disseminatum and Disseminated Demyelinating Encephalomyelitis

A case of xanthoma disseminatum: evaluation and monitoring by18F-fluorodeoxyglucose positron emission tomography/computed tomography

“…Biopsy findings of histiocytic proliferation and immunophenotyping of CD68 positivity, absence of S100, along with clinical manifestations involving the skin, CNS, eyes and respiratory tract, are all consistent with a diagnosis of XD . Although the disease is generally benign, there have been complications associated with the anatomical locations of the lesions, especially the respiratory tract and CNS . XD can involve other organs not readily visible to the naked eye, which has been demonstrated by imaging via X‐ray, CT, MRI, ultrasound and endoscopic retrograde cholangiopancreatography .…”

“…In our current case, the SUV max of the most hypermetabolic lesion (the anterior mediastinal nodule) was 18·9 on initial pretreatment 18 F‐FDG PET/CT. Given that an SUV max of 2·5 is generally used as a threshold for differentiating malignant from benign lung nodules, the highF‐FDG uptake of this lesion was assumed to indicate a poor prognosis, as seen in many other malignancies . Although there has been little study of this issue with respect to XD, initial 18 F‐FDG PET/CT analyses of patients with XD could be helpful for classifying this disease by its prognosis.…”

Xanthoma disseminatum with intracranial involvement: case report and literature review

“…If feasible, surgical excision may be beneficial, 15,16 but has been complicated by recurrence and death in some cases 16 . Oral steroid therapy occasionally results in clinical improvement and/or reduction in the size of CNS lesions 8,13,14 . Chepuri and Challa 14 reported that oral dexamethasone almost completely cured intracranial lesions and associated neurological symptoms in a patient with XD, although cutaneous manifestations persisted.…”

“…In addition, involvement of the pituitary, with accompanying diabetes insipidus, is present in 30–50% of patients 5–7 . However, there have been few cases of XD with central nervous system (CNS) involvement outside the pituitary/hypothalamus 8–16 . CNS lesions may be associated with headache, 8,11,16 nausea, 8,14 vomiting, 11,14 dizziness, 8,14,16 seizures, 12,16 ataxia, 8,12 and visual impairment or loss 8,10,15 .…”

A Case of Xanthoma Disseminatum with Spontaneous Resolution over 10 Years: Review of the Literature on Long-Term Follow-Up

“…XD may also manifest in the bone marrow, the hepatobiliary, musculoskeletal, respiratory and gastrointestinal tracts, and the central nervous system [5]. Although the natural history of XD is usually benign, lesions in critical anatomical locations, especially the respiratory tract and central nervous system, may result in increased morbidity and mortality [6,7]. …”