CNS Abnormalities Common in Erdheim-Chester Disease

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There was radiologic evidence in the brainstem, cerebellum, spinal cord, dura, orbits, and hypothalamic-pituitary axis.
There was radiologic evidence in the brainstem, cerebellum, spinal cord, dura, orbits, and hypothalamic-pituitary axis.

Patients with Erdheim-Chester disease (ECD) are at risk for a variety of central nervous system (CNS) abnormalities, and brain and spine magnetic resonance imaging (MRI) may be necessary to determine the extent of disease and its possible prognosis, according to a study published in Neurology: Clinical Practice.

Using medical record data, investigators retrospectively examined patients with pathologically confirmed ECD who were seen at the Mayo Clinic in Rochester, Minnesota, from 1990 to 2016 (n=53). Neuroimaging data were reviewed by a neuroradiologist and 2 neurologists and included data from brain MRI (n=39), head computed tomography (n=17), spine MRI (n=16), and orbital MRI (n=15).

Neurologic symptoms, including cognitive change, diplopia, dysarthria, dysphagia, focal sensory deficit, focal motor deficit, headache, and imbalance, were noted in 47% of the cohort. In addition, approximately 58% of patients had a BRAFV600E mutation, yet this mutation had no significant association with radiographic CNS involvement (P =.8). At a median follow-up of 2 years (range 0-20 years), the investigators observed radiologic evidence of disease in the brainstem (n=9), cerebellum (n=8), dura (n=6), hypothalamic-pituitary axis (n=17), spinal cord (n=2), and orbits (n=13).

A total of 21 patients had T2 white matter abnormalities (Fazekas score ≥1), and 16 patients (30%) had evidence of diabetes insipidus. Among those with diabetes insipidus, 8 had abnormal imaging of the hypothalamic-pituitary axis, and 7 patients had normal imaging of the hypothalamic-pituitary axis. Additionally, more than half of the cohort (55%, n=22) had radiographic evidence of CNS involvement. No associations were observed between an increased risk for mortality and radiographic evidence of CNS involvement (hazard ratio 2.1; P =.3).

Because of the study's retrospective design, the small number of patients included in the final analysis, and the restriction to patients from a single center, the findings from this study are considered limited. In addition, there were no standardized imaging procedures in place for this study because imaging was performed as part of routine care. Therefore, future research may require a more systematic rigorous approach to imaging.

In addition to brain and spine MRI for diabetes insipidus in patients with ECD, the investigators also “recommend assessment by an endocrinologist for diabetes insipidus diagnosis and treatment” because this disorder is not consistently associated with abnormalities on MRI.

Reference

Parks NE, Goyal G, Go RS, Mandrekar J, Tobin WO. Neuroradiologic manifestations of Erdheim-Chester disease. Neurology: Clinical Practice. 2018;8(1):1-6.

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