Neurological manifestations of Erdheim-Chester disease

Erdheim-Chester disease is a rare sporadic systemic histiocyticdisease of unknown aetiology that affects multiple organ systems. Thecase records of all patients with Erdheim-Chester disease who had beenseen at the Mayo Clinic between 1975 and 1996 were reviewed to assessthe neurological manifestations of the disease. Two of 10 patients hadneurological involvement. A 42 year old woman developed centraldiabetes insipidus and a progressive cerebellar syndrome. Brain MRIshowed a lesion in the left pons with patchy gadolinium enhancement andT2 weighted signal abnormalities extending into both cerebellarpeduncles and the medulla. Biopsy of the brainstem mass showed axanthogranulomatous lesion. The second patient was a 53 year old manwith retroperitoneal fibrosis secondary to xanthogranulomatousinfiltration. Although he had no neurological symptoms and a normalneurological examination, MRI of the head showed multiple uniformlyenhancing extra-axial masses along the dura of both convexities and thefalx, and a mass in the left orbital apex. Both patients had thecharacteristic radiographic and bone scan findings of Erdheim-Chesterdisease. Review of the literature disclosed a wide variety ofneurological manifestations in Erdheim-Chester disease. The mostfrequent CNS manifestations are diabetes insipidus, cerebellarsyndromes, orbital lesions, and extra-axial masses involving the dura.