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Neurological manifestations of Erdheim-Chester disease Wright RA; Hermann RC; Parisi JEJ Neurol Neurosurg Psychiatry 1999[Jan]; 66 (1): 72-5Erdheim-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 Clinic between 1975 and 1996 were reviewed to assess the neurological manifestations of the disease. Two of 10 patients had neurological involvement. A 42 year old woman developed central diabetes insipidus and a progressive cerebellar syndrome. Brain MRI showed a lesion in the left pons with patchy gadolinium enhancement and T2 weighted signal abnormalities extending into both cerebellar peduncles and the medulla. Biopsy of the brainstem mass showed a xanthogranulomatous lesion. The second patient was a 53 year old man with retroperitoneal fibrosis secondary to xanthogranulomatous infiltration. Although he had no neurological symptoms and a normal neurological examination, MRI of the head showed multiple uniformly enhancing extra-axial masses along the dura of both convexities and the falx, and a mass in the left orbital 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 syndromes, orbital lesions, and extra-axial masses involving the dura.|Adrenal Cortex Hormones/therapeutic use[MESH]|Adult[MESH]|Brain Diseases/*complications/*diagnosis[MESH]|Brain Stem/*pathology[MESH]|Brain/*pathology[MESH]|Cerebellar Diseases/complications[MESH]|Diabetes Insipidus/complications[MESH]|Female[MESH]|Histiocytosis/*complications/*diagnosis/drug therapy[MESH]|Humans[MESH]|Magnetic Resonance Imaging[MESH]|Male[MESH]|Middle Aged[MESH] |
