Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review

Background: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. Up to 50% of patients develop central nervous system (CNS) involvement, and a subset of these patients can present with isolated tumor-like masses. The primary objective of this study was to describe the skull base manifestations of ECD with an emphasis on aspects most pertinent to surgeons who may be referred such patients for primary evaluation.

Methods: Scopus, Web of Science, and PubMed were searched from database inception to May 1, 2018, for articles reporting skull base ECD. An institutional retrospective analysis of all patients treated at the authors’ institution since January 1, 1996, was also performed to supplement these data. This review was reported in accordance with the PRISMA guidelines.

Results: Of 465 retrieved articles, 18 studies totaling 20 patients met inclusion criteria. Institutional retrospective review identified an additional 7 patients. Collectively, the median age at diagnosis was 49 years (IQR, 42–58) with a 4:1 male-to-female predominance ([Table 1]). Patients frequently presented with diplopia (48%), headache (30%), dysarthria (22%), and vertigo or imbalance (22%), though trigeminal hypesthesia (11%), facial nerve paresis (7%), hearing loss (7%), and trigeminal neuralgia (7%) were also observed. ECD commonly involved the central (31%) and lateral (27%) skull base, and discrete lesions frequently mimicked meningioma (33%). Neuroimaging ([Figs. 1] [2] [3]) showed 86% of lesions demonstrate homogenous gadolinium enhancement on T1-weighted imaging. Half of skull base lesions in ECD appear in conjunction with either additional CNS findings on neuroimaging, such as bilateral orbital lesions or abnormal T2-weighted hyperintensity in the cerebellum and subcortical white matter, or systemic symptoms, such as bone pain or pericarditis. High-dose systemic corticosteroids, vemurafenib, and anakinra were all effective therapies at treating skull base disease; radiotherapy was performed in three instances but did not result in clinical improvement.

Conclusion: ECD of the skull base presents with symptomatology and imaging findings that may mimic more common cranial base pathology such as meningioma or cranial nerve schwannomas. Medical therapy constitutes the most efficacious initial treatment for symptomatic skull base disease. Surgical resection is not curative and the utility of surgical intervention is mainly limited to biopsy to establish diagnosis and/or surgical debulking to relieve mass effect.