Neuroradiologic manifestations of Erdheim-Chester disease

Natalie E. Parks, Gaurav Goyal, Ronald S. Go, Jayawant Mandrekar, William Tobin

Research output: Contribution to journalArticle

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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 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.

Original languageEnglish (US)
Pages (from-to)15-20
Number of pages6
JournalNeurology: Clinical Practice
Volume8
Issue number1
DOIs
StatePublished - Feb 1 2018

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Erdheim-Chester Disease
Diabetes Insipidus
Spinal Cord
Brain
Spine
Orbit
Neurologic Manifestations
Nervous System Diseases
Serum
Neuroimaging
Osmolar Concentration
Cerebellum
Brain Stem
Sodium
Head
Urine
Mutation
Mortality

ASJC Scopus subject areas

  • Clinical Neurology

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Neuroradiologic manifestations of Erdheim-Chester disease. / Parks, Natalie E.; Goyal, Gaurav; Go, Ronald S.; Mandrekar, Jayawant; Tobin, William.

In: Neurology: Clinical Practice, Vol. 8, No. 1, 01.02.2018, p. 15-20.

Research output: Contribution to journalArticle

Parks, Natalie E. ; Goyal, Gaurav ; Go, Ronald S. ; Mandrekar, Jayawant ; Tobin, William. / Neuroradiologic manifestations of Erdheim-Chester disease. In: Neurology: Clinical Practice. 2018 ; Vol. 8, No. 1. pp. 15-20.
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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 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.",
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