Related Experiment Video
Updated: Aug 6, 2026
A Visual Approach for Inducing Dolichoectasia in Mice to Model Large Vessel-Mediated Cerebrovascular Dysfunction
Published on: May 17, 2024
Cerebrovascular involvement in Erdheim-Chester disease: a case report and systematic literature review
Claire Delacotte1, Charlotte Arnaud2, Hubert de Boysson3
1Department of Internal Medicine Interne & Clinical Immunology, CHU de Caen Normandie, Caen 14000, France.
Insights
Erdheim-Chester disease (ECD) can cause underdiagnosed intracranial vascular issues, leading to strokes. Recognizing this "cerebrovascular ECD" pattern is crucial for prognosis and treatment, necessitating vascular imaging in ECD patients.
Area of Science:
- Neurology
- Vascular Medicine
- Rare Diseases
Background:
- Erdheim-Chester disease (ECD) is a rare systemic non-Langerhans cell histiocytosis.
- Intracranial vascular involvement, including perivascular infiltrations and stenoses, is infrequently documented in ECD.
- This involvement is often associated with ischemic neurological events.
Purpose of the Study:
- To characterize the spectrum of intracranial perivascular/vascular infiltrations and stenoses in Erdheim-Chester disease.
- To highlight the association between these vascular findings and ischemic events.
- To propose a diagnostic approach for this CNS manifestation.
Main Methods:
- A case report of ECD presenting with intracranial arterial involvement and strokes.
- Systematic literature search for English and French publications on ECD with intracranial vascular involvement.
- Definition of vascular involvement based on imaging (infiltrations, stenoses) or histopathology.
Main Results:
- A case of recurrent strokes due to vertebral and basilar artery stenosis in ECD, initially misdiagnosed.
- Literature review identified 12 additional cases, totaling 13 patients with intracranial vascular involvement.
- Commonly affected vessels included carotid and vertebrobasilar arteries; aortic involvement was frequent.
- Cerebrovascular signs and parenchymal involvement were observed in most patients.
- Poor neurovascular outcomes were noted in half of the patients with available follow-up.
Conclusions:
- Intracranial perivascular/vascular infiltrations and stenoses represent an underdiagnosed CNS manifestation of ECD, termed "cerebrovascular ECD".
- This pattern is associated with recurrent ischemic events and worsens the overall prognosis.
- Brain MRI protocols for ECD patients should incorporate vascular imaging to detect this potentially treatable condition.
Background:
Intracranial perivascular/vascular infiltrations and stenoses related to Erdheim-Chester disease (ECD), often associated with ischemic events, are rarely documented. This study aims to characterize intracranial perivascular/vascular infiltrations and stenoses.
Methods:
We first report a new case of strokes revealing ECD with intracranial arterial involvement. We then searched all English- and French-language publications from database inception to November 2025 across 12 different search interfaces, including grey literature sources. Vascular involvement was defined by the presence of intracranial perivascular/vascular infiltrations and stenosis on imaging and/or histopathological evidence of small-vessel involvement. Cases with intracranial nodules or masses abutting vessels but without clear longitudinal perivascular infiltration were excluded.
Results:
We present a case of recurrent strokes with intracranial vertebral and basilar artery wall stenosis, and aortitis. Initially diagnosed as giant cell arteritis, the patient was treated with corticosteroids, cyclophosphamide followed by methotrexate, but relapsed. The identification of tibial osteosclerosis led to the diagnosis of ECD, with a favorable response to anakinra. Twelve relevant articles were retrieved, in addition to our own case. Most patients exhibited focal cerebrovascular signs (11/13) and associated parenchymal involvement (11/13). Intracranial perivascular/vascular infiltrations and stenoses involved the carotid arteries (7/13), the vertebrobasilar arteries (1/13), or both territories (4/13). Aorta was involved in 8/12 cases. Among the nine patients with available follow-up data, five had poor overall or neurovascular outcomes.
Conclusions:
Intracranial perivascular/vascular infiltrations and stenoses, which leads to recurrent focal ischemic events, represents a likely underdiagnosed CNS pattern in ECD, referred to as "cerebrovascular ECD", which worsens overall prognosis. Vascular imaging should be included in brain MRI protocols for patients with ECD, given the overlap with parenchymal involvement.
Related Concept Videos
01:22Cerebral Edema ll: Pathophysiology
01:29Hemorrhagic Stroke ll: Pathophysiology
01:20Overview of the Vascular System
01:17Hemorrhagic Stroke l: Introduction