Neurological manifestations of Erdheim-Chester disease

Erdheim-Chester disease is a rare sporadic systemic histiocytic disease of unknown aetiology that affects multiple organ systems. The case records of all patients with Erdheim-Chester disease who had been seen at the Mayo Cli nic between 1975 and 1996 were reviewed to assess the neurological manifest ations of the disease. Two of 10 patients had neurological involvement. A 4 2 year old woman developed central diabetes insipidus and a progressive cer ebellar syndrome. Brain MRI showed a lesion in the left pens with patchy ga dolinium enhancement and T2 weighted signal abnormalities extending into bo th cerebellar peduncles and the medulla. Biopsy of the brainstem mass showe d a xanthogranulomatous lesion. The second patient was a 53 year old man wi th retroperitoneal fibrosis secondary to xanthogranulomatous infiltration. Although he had no neurological symptoms and a normal neurological examinat ion, MRI of the head showed multiple uniformly enhancing extra-axial masses along the dura of both convexities and the fair, and a mass in the left or bital apex. Both patients had the characteristic radiographic and bone scan findings of Erdheim-Chester disease. Review of the literature disclosed a wide variety of neurological manifestations in Erdheim-Chester disease. The most frequent CNS manifestations are diabetes insipidus, cerebellar syndro mes, orbital lesions, and extra-axial masses involving the dura.