AI Article Synopsis
- The case describes a patient with cryopyrin-associated periodic syndrome (CAPS) who has a rare genetic mutation and an unusual neurological presentation characterized primarily by chorea.
- Traditional treatments were ineffective, but the patient's symptoms and MRI findings showed significant improvement after treatment with anakinra, which blocks IL-1β.
- The study highlights the uniqueness of the patient's condition due to the rare mutation, prolonged disease course, and the remarkable recovery following specific therapy.
Article Abstract
Objective: To describe a patient with cryopyrin-associated periodic syndrome (CAPS) with an uncommon neurologic phenotype and a rare underlying genetic mutation.
Results: Our patient had CAPS with a rare NLPR3 missense mutation (p.Tyr859Cys) in exon 6 with chorea as the major symptom. Clinical symptoms were associated with persistent inflammatory changes of the CSF and serum and included elevated anticardiolipin immunoglobulin G; MRI showed prolonged gadolinium enhancement of 2 chronic inflammatory lesions. Conventional immunosuppressive treatment with prednisolone and hydroxychloroquine was insufficient. Neurologic symptoms, laboratory/chemical measures, and MRI abnormalities almost completely normalized following interleukin (IL)-1β blockade with anakinra.
Conclusions: This case is unique for its uncommon neurologic phenotype, the rare underlying genetic mutation, and the long course of the disease as well as almost complete recovery following appropriate therapy. In addition, the chronic inflammatory white matter lesions observed on brain MRI and the responsiveness to IL-1β blockade with anakinra are unusual.
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| http://dx.doi.org/10.1212/WNL.0000000000002300 | DOI Listing |
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Article Synopsis
- The study evaluates the effectiveness and safety of canakinumab in treating Cryopyrin-associated periodic syndrome (CAPS) specifically in Chinese patients, as its use in this demographic was previously underreported.
- Out of 10 patients analyzed, 60% achieved complete remission and showed significant improvement in symptoms like fever and rash after treatment, while some required dose adjustments.
- The treatment was generally well-tolerated, with infections being the most common side effect, but no serious adverse events were reported, indicating canakinumab could be a viable option for CAPS management in this population.*
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