Neuroradiologic manifestations of Erdheim-Chester disease

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

Résultat de recherche: Articleexamen par les pairs

48 Citations (Scopus)

Résumé

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 V600E mutation in 58% (15/26). Median follow-up was 2 years (range 0-20) with 18 patients deceased. Radiologic disease evidence was seen in dura (6/41), brainstem (9/39), cerebellum (8/39), spinal cord (2/16), spinal epidura (2/16), hypothalamic-pituitary axis (17/39), and orbits (13/42). T2 white matter abnormalities (Fazekas score ≥1) were present in 21/34 patients. Diabetes insipidus was present in 30% (16/53); 8 had abnormal hypothalamic-pituitary axis imaging. Radiographic evidence of CNS involvement (i.e., dural, brain, including Fazekas score >1, or spinal cord) occurred in 55% (22/40) and was unassociated with significantly increased mortality. 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.

Langue d'origineEnglish
Pages (de-à)15-20
Nombre de pages6
JournalNeurology: Clinical Practice
Volume8
Numéro de publication1
DOI
Statut de publicationPublished - févr. 1 2018

Note bibliographique

Funding Information:
N.E. Parks has provided consulting services for Biogen and Roche. G. Goyal reports no disclosures. R.S. Go receives research support from Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery and Mark A. and Elizabeth N. Binks Fund Eagles Funds for Cancer Research. J. Mandrekar reports no disclosures. W.O. Tobin reports no disclosures. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

Publisher Copyright:
© 2018 American Academy of Neurology.

ASJC Scopus Subject Areas

  • Clinical Neurology

PubMed: MeSH publication types

  • Journal Article

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