Three clinical cases are described including two of relapsing polychondritis with lesions in the central and peripheral nervous system (one of long-standing aseptic lymphocytic meningitis and one of cranial neuropathy of 2, 5, 7, and 8 pairs) and the third case of the optic nerve lesion with amblyopia. The two former cases were successfully treated with high doses of corticosteroids, the third one with moderate doses of the same medications. The data from the current literature concerning variants of clinical manifestations, methods for diagnostics and treatment of neurologic manifestations of relapsing polychondritis are discussed.
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- Relapsing polychondritis (RP) is a rare autoimmune disorder that causes recurring inflammation in cartilaginous tissues, affecting areas like the ears, nose, and joints.
- A 68-year-old woman without prior health issues showed symptoms like hoarseness, polyarthritis, and nasal/ear involvement, leading to her RP diagnosis using the Modified McAdam criteria.
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Introduction: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), recently described, due to a somatic mutation of the UBA1 gene and often associated with hemopathy, is characterized by systemic symptoms close to those described in Still's disease or relapsing polychondritis. There are also patients with hemopathy, presenting inflammatory symptoms reminiscent of those of VEXAS syndrome but without mutation of the UBA1 gene.
Case/discussion: Two male patients consulted for general signs, dermatological symptoms, arthralgia, chondritis and venous thrombosis, like patients in the French cohort suffering from VEXAS syndrome.
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