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Neuroradiologic manifestations of Erdheim-Chester disease
Natalie E Parks1, Gaurav Goyal1, Ronald S Go1
1Departments 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.
Insights
Erdheim-Chester disease frequently affects the brain and spine, with imaging revealing varied neuraxis involvement. Early MRI and screening for diabetes insipidus are crucial for assessing neurologic disease extent.
Area of Science:
- Neuroradiology
- Neuropathology
- Oncology
Background:
- Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis with potential multisystemic involvement.
- Neuroradiologic manifestations of ECD are diverse and can mimic other conditions.
- Understanding the spectrum of CNS involvement is critical for diagnosis and management.
Purpose of the Study:
- To characterize the neuroradiologic features of Erdheim-Chester disease.
- To correlate imaging findings with clinical presentation and outcomes.
- To provide guidance for diagnostic workup in suspected cases.
Main Methods:
- Retrospective analysis of 53 patients with pathologically confirmed Erdheim-Chester disease.
- Review of neuroimaging studies including head CT, brain MRI, orbital MRI, and spine MRI.
- Correlation of imaging findings with clinical data, including neurologic symptoms and BRAF V600E mutation status.
Main Results:
- Central nervous system (CNS) involvement was observed in 55% of patients, including dura, brainstem, cerebellum, spinal cord, and orbits.
- Hypothalamic-pituitary axis abnormalities were common (17/39), associated with diabetes insipidus in 30% of patients.
- T2 white matter abnormalities (Fazekas score ≥1) were present in 21/34 patients; CNS involvement did not significantly increase mortality.
Conclusions:
- Erdheim-Chester disease frequently and variably involves the neuraxis.
- MRI of the brain and spine is recommended for suspected ECD.
- Screening for diabetes insipidus is essential to evaluate the full extent of neurologic disease.
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); BRAFV600E 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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