Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study

Authors

Aryan Zahergivar, Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA; Department of Internal Medicine, George Washington University, Washington, DC, USA.
Fatemeh Dehghani Firouzabadi, Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Fatemeh Homayounieh, Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Mahshid Golagha, Urology Oncology Branch, National Cancer Institutes, National Institutes of Health, Bethesda, MD, USA.
Fahimul Huda, Department of Radiology, University of Louisville School of Medicine, KY, USA.
Nadia Biassou, Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Ritu Shah, Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Moozhan Nikpanah, Department of Radiology, University of Alabama at Birmingham, Birmingham, AL, USA.
Mojdeh Mirmomen, Department of Radiology, UC San Diego School of Medicine, San Diego, CA, USA.
Faraz Farhadi, Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Rahul H. Dave, Viral Immunology and Intravital Imaging Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Skand Shekhar, Clinical Research Branch, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, NC, USA.
William A. Gahl, National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, NIH, Bethesda, MD, USA.
Juvianee I. Estrada-Veras, National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, NIH, Bethesda, MD, USA.
Ashkan A. Malayeri, Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, MD, USA. Electronic address: ashkan.malayeri@nih.gov.
Kevin O'Brien, National Human Genome Research Institute, Medical Genetics Branch, Office of the Clinical Director, NIH, Bethesda, MD, USA. Electronic address: obrienke@mail.nih.gov.

Document Type

Journal Article

Publication Date

9-4-2024

Journal

Clinical imaging

Volume

115

DOI

10.1016/j.clinimag.2024.110281

Keywords

Amygdala; BRAF(V600E) pathogenic variant; Brain MRI; Brainstem lesions; CNS; Cerebellar lesions; Cerebral atrophy; Deep basal ganglia; Erdheim-Chester disease; Infra-tentorial lesions; Magnetic resonance imaging; Neurologic; Thalamus

Abstract

PURPOSE: To characterize brain MR imaging findings in a cohort of 58 patients with ECD and to evaluate relationship between these findings and the BRAF pathogenic variant. METHODS: ECD patients of any gender and ethnicity, aged 2-80 years, with biopsy-confirmed ECD were eligible to enroll in this study. Two radiologists experienced in evaluating ECD CNS disease activity reviewed MRI studies. Any disagreements were resolved by a third reader. Frequencies of observed lesions were reported. The association between the distribution of CNS lesions and the BRAFpathogenic variant was evaluated using Fisher's exact test and odd ratio. RESULTS: The brain MRI of all 58 patients with ECD revealed some form of CNS lesions, most likely due to ECD. Cortical lesions were noted in 27/58 (46.6 %) patients, cerebellar lesions in 15/58 (25.9 %) patients, brain stem lesions in 17/58 cases (29.3 %), and pituitary lesions in 10/58 (17.2 %) patients. Premature cortical atrophy was observed in 8/58 (13.8 %) patients. BRAF pathogenic variant was significantly associated with cerebellar lesions (p = 0.016) and bilateral brain stem lesions (p = 0.043). A trend toward significance was noted for cerebral atrophy (p = 0.053). CONCLUSION: The study provides valuable insights into the brain MRI findings in ECD and their association with the BRAF pathogenic variant, particularly its association in cases with bilateral lesions. We are expanding our understanding of how ECD affects cerebral structures. Knowledge of MRI CNS lesion patterns and their association with mutations such as the BRAF variant is helpful for both prognosis and clinical management.

APA Citation

Zahergivar, Aryan; Firouzabadi, Fatemeh Dehghani; Homayounieh, Fatemeh; Golagha, Mahshid; Huda, Fahimul; Biassou, Nadia; Shah, Ritu; Nikpanah, Moozhan; Mirmomen, Mojdeh; Farhadi, Faraz; Dave, Rahul H.; Shekhar, Skand; Gahl, William A.; Estrada-Veras, Juvianee I.; Malayeri, Ashkan A.; and O'Brien, Kevin, "Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study" (2024). GW Authored Works. Paper 5682.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/5682

Department

School of Medicine and Health Sciences Resident Works