TY - JOUR
T1 - Neuroradiologic manifestations of Erdheim-Chester disease
AU - Parks, Natalie E.
AU - Goyal, Gaurav
AU - Go, Ronald S.
AU - Mandrekar, Jay
AU - Tobin, W. Oliver
N1 - Publisher Copyright:
© 2018 American Academy of Neurology.
PY - 2018/2/1
Y1 - 2018/2/1
N2 - 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.
AB - 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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U2 - 10.1212/CPJ.0000000000000422
DO - 10.1212/CPJ.0000000000000422
M3 - Article
AN - SCOPUS:85048364058
SN - 2163-0402
VL - 8
SP - 15
EP - 20
JO - Neurology: Clinical Practice
JF - Neurology: Clinical Practice
IS - 1
ER -