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Chorea in a patient with cryopyrin-associated periodic syndrome

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 sympt...

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Autori principali: Schwarzbach, Christopher Jan (Autore) , Schmitt, Wilhelm (Autore) , Szabo, Kristina (Autore) , Bäzner, Hansjörg (Autore) , Hennerici, Michael G. (Autore) , Blahak, Christian (Autore)
Natura: Article (Journal)
Lingua:inglese
Pubblicazione: 2016
In: Neurology
Year: 2016, Volume: 86, Fascicolo: 3, Pages: 241-244
ISSN:1526-632X
DOI:10.1212/WNL.0000000000002300
Accesso online:Verlag, Volltext: http://dx.doi.org/10.1212/WNL.0000000000002300
Verlag, Volltext: http://www.neurology.org/lookup/doi/10.1212/WNL.0000000000002300
Testo
Note sull'autore:Christopher J. Schwarzbach, Wilhelm H. Schmitt, Kristina Szabo, Hansjoerg Bäzner, Michael G. Hennerici, Christian Blahak
Descrizione
Riassunto: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.
Descrizione del documento:Gesehen am 18.01.2019
First published December 18, 2015
Descrizione fisica:Online Resource
ISSN:1526-632X
DOI:10.1212/WNL.0000000000002300

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