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Neurol Clin Pract. 2018 Feb;8(1):15-20. doi: 10.1212/CPJ.0000000000000422.

Neuroradiologic manifestations of Erdheim-Chester disease.

Neurology. Clinical practice

Natalie E Parks, Gaurav Goyal, Ronald S Go, Jay Mandrekar, W Oliver Tobin

Affiliations

  1. Departments of Neurology (NEP, WOT), Hematology (GG, RSG), and Biomedical Statistics and Informatics (JM), Mayo Clinic, Rochester, MN; and Division of Neurology (NEP), Dalhousie University, Halifax, Canada.

PMID: 29517068 PMCID: PMC5839689 DOI: 10.1212/CPJ.0000000000000422

Abstract

BACKGROUND: We describe the neuroradiologic features of a cohort of patients with Erdheim-Chester disease.

METHODS: We assessed patients at Mayo Clinic Rochester between January 1, 1990, and July 31, 2016, with pathologically confirmed Erdheim-Chester disease (n = 53).

RESULTS: Neuroimaging, including head CT (n = 17), brain MRI (n = 39), orbital MRI (n = 15), and spine MRI (n = 16), was available for 42 participants. Median age at diagnosis was 55 years (interquartile range 46-66) with higher male prevalence (33:20). Neurologic symptoms were identified in 47% (25/53); BRAF

CONCLUSIONS: Erdheim-Chester disease commonly and variably involves the neuraxis. Patients with suspected Erdheim-Chester disease should undergo MRI brain and spine and screening investigations (serum sodium, serum and urine osmolality) for diabetes insipidus to clarify extent of neurologic disease.

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