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Published on: July 28, 2013
Neuroimaging Spectrum of Erdheim-Chester Disease: An Image-Based Review
Pranjal Rai1, Hayden J Swartz2, Neetu Soni3
1From the Department of Radiology (P.R.), Tata Memorial Hospital, Maharashtra, India.
Insights
Erdheim-Chester disease (ECD) can affect the central nervous system (CNS), leading to diverse neurological symptoms and imaging findings. Recognizing CNS-ECD manifestations is crucial due to its association with poorer prognosis and higher mortality.
Area of Science:
- Neurology
- Radiology
- Histiocytic Disorders
Background:
- Erdheim-Chester disease (ECD) is a rare multisystemic histiocytic disorder.
- Central nervous system (CNS) involvement occurs in about half of ECD patients, often worsening prognosis.
Purpose of the Study:
- To review the diverse clinical and imaging manifestations of CNS involvement in ECD.
- To highlight the importance of recognizing CNS-ECD due to its prognostic implications.
Main Methods:
- Literature review of clinical presentations and neuroimaging findings in CNS-ECD.
- Discussion of differential diagnoses for histiocytic and nonhistiocytic processes.
Main Results:
- CNS-ECD presents with variable neurological symptoms (cognitive decline, motor deficits, neuropathies).
- Neuroimaging reveals diverse findings: volume loss, lesions, meningeal infiltration, hypothalamo-pituitary axis involvement, and perivascular changes.
- Craniofacial, orbital, and spinal involvement are also documented.
Conclusions:
- CNS involvement in ECD is common and associated with increased mortality.
- Awareness of CNS-ECD's varied manifestations and imaging features is vital for timely diagnosis and management.
Abstract:
Erdheim-Chester disease (ECD) is a rare, multisystem histiocytic disorder characterized by its variable clinical presentations. CNS involvement is observed in approximately one-half of patients with ECD (up to 76% in some series) and often carries a poorer prognosis. While CNS involvement may remain asymptomatic, others may experience a range of neurologic symptoms, including cognitive decline, neuropsychiatric disturbances, motor deficits, cranial or peripheral neuropathies, and endocrine abnormalities. Neuroimaging findings in CNS-ECD are diverse, including neurodegeneration manifesting as cerebral or cerebellar volume loss; solitary or multifocal variably enhancing intraparenchymal lesions along the neuroaxis; meningeal infiltration; and involvement of the hypothalamo-pituitary axis, perivascular sheathing, or basal ganglia lesions. Other well-documented sites of involvement include the craniofacial region, orbits, and spine. Awareness of these findings is relevant, not only because of the nonspecific nature of these findings, but also because of the high proportion of CNS involvement in ECD and the higher mortality associated with CNS involvement. This review provides an in-depth overview of the various manifestations of CNS involvement in ECD and their imaging features, along with a brief overview of the differential considerations, which include other histiocytic and nonhistiocytic processes.
