Cerebral manifestation of Erdheim-Chester disease: clinical and radiologic findings

A 33-year-old woman presented with a 3-year history of progressive numbness in the hand, cerebellar ataxia, limb weakness, nystagmus, and dysarthria. T2-weighted MRI revealed abnormal foci of increased signal intensity mimicking demyelinating plaques in the periventricular white matter, and brain 18FDG-PET scan showed increased uptake in the pons. Biopsy from a tibial lesion showed aggregates of foamy histiocytes in the intertrabecular spaces replacing the bone marrow, characteristic of Erdheim-Chester disease. The patient was treated with craniospinal radiation. After 6 months, the clinical picture was stable and the MRI was unchanged.