Long-term outcome of basilar stenosis in Erdheim–Chester disease

Abstract

Background:Erdheim–Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. This inflammatory myeloid neoplasm is frequently complicated by neurological symptoms, but stroke is an exceptional manifestation of this disease.Methods:We report the case of a 59-year-old woman who presented a vertebrobasilar stroke secondary to infiltration and severe stenosis of the basilar artery, improved after interferon-alpha therapy. We performed a review of the relevant literature and reported the few other cases described.Results:With our patient, we have found only 7 observations of cerebrovascular disorder in ECD. Most of them had supravascular arteries involvement.Conclusion:Stroke is a rare treatable and potentially reversible complication of ECD. The pathophysiological processes explaining stroke in this disease are uncertain, but periarterial stenosis of cerebral arteries may be a mechanism.

Histiocytosis and the nervous system: from diagnosis to targeted therapies

“… 20 , 53 , 54 An additional feature suggestive of ECD is the sheathing of intracranial vessels that can lead to ischemic stroke or compression of adjacent structures. 55 In a study of 40 patients, radiographic evidence of CNS involvement (ie, dural, brain, including Fazekas score >1, or spinal cord) occurred in 22 (55%). The MRI lesions were mainly seen in dura (6/41), brainstem (9/39), cerebellum (8/39), spinal cord (2/16), spinal epidural region (2/16), hypothalamic-pituitary axis (17/39), and orbits (13/42).…”

Erdheim‐Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature

“…In addition, all of the CNS‐limited ECD cases were ultimately diagnosed by cranial biopsy. On the other hand, cranial biopsy has rarely been performed in ECD cases with systemic involvement, as skin, bone, or kidney biopsies were preferred in these cases because they were easier to perform 6,28,30–47 . In almost half of the cases, the BRAF mutation was not studied or not mentioned in the case reports.…”

“…On the other hand, cranial biopsy has rarely been performed in ECD cases with systemic involvement, as skin, bone, or kidney biopsies were preferred in these cases because they were easier to perform. 6,28,[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47] In almost half of the cases, the BRAF mutation was not studied or not mentioned in the case reports. However, if the BRAF mutation was studied and found to be positive, the prognosis was favorable, with total or partial remission when specific BRAF kinase inhibitors (such as vemurafenib or dabrafenib) or tyrosine kinase inhibitors (such as cobimetinib) were used as targeted therapy.…”

Cerebral Microvascular Erdheim-Chester Disease: A Perivascular Hematopoietic Vasculopathy

“…Cerebrovascular involvement by ECD is rare and, similar to systemic disease, demonstrates a predilection for the larger cervicocranial vessels. ECD has been associated with perivascular infiltration and stenosis of the cervical carotid [10], intracranial carotid [7], middle cerebral [11], vertebral [12], and basilar [13] arteries, with microvascular involvement implied in the presence of concurrent leukoencephalopathy [12,14]. Previous reports documenting perivascular infiltrates of the microvasculature are lacking in ECD.…”