Cerebrovascular involvement in Erdheim-Chester disease: a case report and systematic literature review.
Claire Delacotte, Charlotte Arnaud, Hubert de Boysson et al.
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Case in brief
A patient presented with recurrent strokes attributed to intracranial vertebral and basilar artery wall stenosis, initially misdiagnosed as giant cell arteritis. Despite treatment with corticosteroids and immunosuppressants, the patient relapsed. The discovery of tibial osteosclerosis led to the correct diagnosis of Erdheim-Chester disease (ECD), and the patient responded favorably to anakinra.
What made this case unusual
This case highlights the cerebrovascular involvement in ECD, characterized by intracranial vascular infiltrations and stenoses, which is rarely documented and often leads to ischemic events.
Diagnostic / clinical pearl
Clinicians should consider Erdheim-Chester disease in patients with recurrent strokes and vascular stenosis, especially when accompanied by atypical findings like tibial osteosclerosis.
Why it matters
Recognizing cerebrovascular ECD can improve diagnosis and management, as vascular imaging may reveal significant intracranial involvement that impacts patient outcomes.