Cerebrospinal Fluid Neopterin and Cryopyrin-Associated Periodic Syndrome
作者： Mercedes Serrano , Aida Ormazábal , Jordi Antón , Juan I. Aróstegui , Àngels García-Cazorla
DOI: 10.1016/J.PEDIATRNEUROL.2009.06.008
关键词:
摘要: Cryopyrin-associated periodic syndrome is a category of autoinflammatory disorders caused by mutations the NLRP3 gene, with chronic infantile neurologic cutaneous and articular being severest clinical phenotype. Various pterins have been reported as mediating immunologic functions in central nervous system, but to date studies pterin cerebrospinal fluid (CSF) values cryopyrin-associated lacking. A 2-year-old child was affected severe atypical form syndrome, suspected based on analysis neopterin CSF. He initially presented isolated manifestations mimicking neuroregressive disorder. Blood CSF analyses did not present any routine inflammatory markers, elevated. Later, patient developed arthritis recurrent episodes fever, diagnosis confirmed genetic studies. Neopterin most altered indicator over time. Child neurologists should be alert when unexplained signs appear, giving consideration possibility or immune-mediated diseases. The case demonstrates utility measurement levels screening for these diseases, especially symptoms are associated normal results tests.
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