Neurosarcoidosis

Amy Espinal MD (

Dr. Espinal of the University of Chicago has no relevant financial relationships to disclose.

)
Widad Abou Chaar MD (

Dr. Abou Chaar of the University of Chicago has no relevant financial relationships to disclose.

)
Deric M Park MD (

Dr. Park of the University of Chicago has no relevant financial relationships to disclose.

)
Anthony T Reder MD, editor. (

Dr. Reder of the University of Chicago received honorariums from Bayer, Biogen Idec, Caremark Rx, Genentech, Genzyme, Novartis, Mallinckrodt, Mylan, Serono, and Teva-Marion for service on advisory boards and as a consultant as well as stock options from NKMax America for advisory work.

)
Originally released May 8, 1995; last updated April 26, 2020; expires April 26, 2023

This article includes discussion of neurosarcoidosis, Besnier-Boeck-Schaumann disease, Heerfordt syndrome, sarcoidosis, uveo-parotid fever, and Löfgren syndrome. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

In this article, the authors present the current understanding of the epidemiology, diagnostic findings, proposed pathogenesis, relevant genetics, and therapeutic options for neurosarcoidosis. Although corticosteroids are the most widely employed form of therapy, steroid-sparing immunosuppressive agents, such as methotrexate, azathioprine, cyclophosphamide, thalidomide, and more recently, tumor necrosis factor (TNF)-α inhibitor infliximab are showing promising results in treatment of this disease. The cytokine, TNF-α, is generated in granulomas, and reports and small case series have shown a treatment response with infliximab in refractory cases of neurosarcoidosis. However, lack of randomized, controlled studies demands careful clinical assessment prior to trial of such glucocorticoid-sparing immunosuppressive medications.

Key points

 

• The etiology of neurosarcoidosis remains unclear.

 

• Optic and facial nerve dysfunctions are common neurologic manifestations of neurosarcoidosis.

 

• Definite diagnosis of neurosarcoidosis requires a positive central nervous system biopsy. There is no definitive noninvasive test for establishing a diagnosis of neurosarcoidosis. The CSF angiotensin-converting enzyme (ACE) level is not highly sensitive, and its level can be elevated in other conditions.

 

• Selection of therapeutic agents ranging from corticosteroids to glucocorticoid-sparing immunosuppressants should be tailored to specific clinical needs.

 

• Infliximab, a TNF-α inhibitor, has clinical benefit in refractory cases of neurosarcoidosis in small series and case reports.

Historical note and terminology

Sarcoidosis was initially described as a dermatologic disorder. Jonathan Hutchinson, an English physician, examined a patient with purplish, symmetric, nontender skin plaques in 1869 and concluded the condition was a manifestation of gout (Hutchinson 1877). The Norwegian dermatologist, Caesar Peter Moeller Boeck, proposed the term “sarkoid,” or sarcoma-like, after detailed histological studies (Boeck 1899). Recognition of the multisystem nature of the disease is generally credited to Jorgen Schaumann, a Swedish dermatologist who in 1936 described involvement of the liver, spleen, lungs, and bone (Schaumann 1936). Involvement of the nervous system was reported perhaps most notably by Christian Frederick Heerfordt (Heerfordt 1909). This Danish ophthalmologist described 3 patients with parotid enlargement, uveitis, and facial nerve palsies in the setting of a febrile illness but attributed the condition to mumps. Interestingly, a retrospective diagnosis of sarcoidosis was given to Maximillien de Robespierre, who died in 1794 (Charlier and Froesch 2013). The diagnosis was based on an examination of his death mask and a historical account of persistent symptoms.

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