We present the third reported case of ischemic strokes secondary to Erdheim-Chester Disease-related intracranial vasculopathy.

Erdheim-Chester Disease (ECD) is a rare non-Langerhans cell histiocytosis affecting multiple organ systems. Neurologic manifestations are typically secondary to abnormal cell infiltration into the brain parenchyma or osseous tissue leading to skull-based tumors, orbital lesions, and neurohypophysitis.  

A 53-year-old woman with no vascular risk factors was recently diagnosed with biopsy-proven Erdheim-Chester Disease with BRAF mutation complicated by infiltrative cardiomyopathy, mesenteric artery stenosis, and central diabetes insipidus presented with a large pericardial effusion requiring robotic-assisted pericardial window. Brain Magnetic Resonance Imaging (MRI) was ordered for a six-week history of worsening headaches and fluctuating left facial droop, which revealed extensive acute and subacute right middle cerebral artery (MCA) infarcts. Neurologic examination revealed transient left facial asymmetry. CT Angiogram found severe right proximal internal carotid (ICA) and right middle cerebral artery (MCA) stenosis. Cerebral angiogram depicted left ICA stenosis, right ICA occlusion and severe multifocal intracranial stenosis involving the left and right anterior circulation with robust collaterals. Serum work-up for other systemic vasculitic causes was negative. Lumbar puncture was obtained to rule out alternative etiologies. CSF studies were unremarkable with normal routine analysis, IgG index and negative infectious studies. During multidisciplinary review with hematology, stroke neurology, and neuroradiology, the intracranial stenosis was thought to be secondary to ECD. The patient was started on high-dose prednisone with plans to start Vemurafenib, a BRAF inhibitor, as an outpatient. On one-month follow-up, the patient’s headaches had completely resolved and Vemurafenib was started.

This case report illustrates a rare presentation of intracranial vasculopathy due to ECD. Patients with suspected ECD and neurologic symptoms should undergo early investigations to initiate timely, aggressive immunosuppressive treatment.