Neurosarcoidosis: an update on diagnosis and therapy

ABSTRACT

Introduction

Clinically overt granulomatous involvement of the nervous system (i.e. neurosarcoidosis) can be seen in up to 10% of patients with sarcoidosis. Establishing a diagnosis of neurosarcoidosis is often challenging due to the heterogeneity of clinical presentations that are sometimes nonspecific, and inaccessibility of tissue confirmation. Recommended treatments are based on expert opinions that are derived from clinical experience and limited data from retrospective studies, as data from randomized controlled studies are limited.

Area covered

In this article, we comprehensively review all available literature on epidemiology, clinical presentations, diagnosis, treatment, and outcomes of neurosarcoidosis. We also offer our opinions on diagnostic approach and treatment strategy.

Expert opinion

Given the invasive nature and the limited sensitivity of biopsy of the nervous system, diagnosis of neurosarcoidosis is usually made when ancillary tests (such as magnetic resonance imaging and cerebrospinal fluid analysis) are compatible, and alternative diagnoses are reasonably excluded in patients with established extraneural sarcoidosis. Several factors must be taken into consideration to formulate the initial treatment strategy, including the extent of the disease, severity, functional impairment, comorbidities, and patient’s preference. In addition, treatment regimen of neurosarcoidosis should be formulated with an emphasis on long-term strategy.

KEYWORDS:

• Sarcoidosis
• neurosarcoidosis
• cranial neuropathy
• meningitis
• TNF inhibitor
• clinical manifestation
• diagnosis
• infliximab

Article highlights

• Clinically overt granulomatous involvement of the nervous system can be seen in up to 10% of patients with sarcoidosis.

• Cranial neuropathy, meningitis, and brain parenchymal disease are the most common manifestations of neurosarcoidosis.

• The authors agree with the Neurosarcoidosis Consortium Consensus Group diagnosis with the designation of ‘possible’ and ‘probable’ neurosarcoidosis based on the presence of extraneural sarcoidosis and evidence of CNS inflammation from ancillary test without biopsy of the nervous tissue.

• Glucocorticoids are almost always the first-line treatment of neurosarcoidosis, and steroid-sparing agent should be used up front to treat moderate-to-severe neurosarcoidosis.

• Infliximab can be used for patients with refractory neurosarcoidosis based on several case reports and case series.

Declaration of interest

BP Moss has stock in Pfizer and has received consulting fees from Biogen. He also receives research support from Genentech and Novartis. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

Thispaper was not funded.