title: Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome.
abstract: Cryopyrin-associated periodic syndrome is a category of autoinflammatory disorders caused by mutations of the NLRP3 gene, with chronic infantile neurologic cutaneous and articular syndrome being the severest clinical phenotype. Various pterins have been reported as mediating immunologic functions in the central nervous system, but to date studies of pterin cerebrospinal fluid (CSF) values and cryopyrin-associated periodic syndrome have been lacking. A 2-year-old child was affected with a severe atypical form of cryopyrin-associated periodic syndrome, suspected based on the analysis of neopterin in CSF. He initially presented isolated neurologic manifestations mimicking a neuroregressive disorder. Blood and CSF analyses did not present any routine inflammatory markers, but CSF neopterin was elevated. Later, the patient developed arthritis and recurrent episodes of fever, and the cryopyrin-associated periodic syndrome diagnosis was confirmed by genetic studies. Neopterin was the most altered indicator over the time. Child neurologists should be on the alert when unexplained neurologic signs appear, giving consideration to the possibility of inflammatory or immune-mediated diseases. The present case demonstrates the clinical utility of measurement of CSF neopterin levels in screening for these immune-mediated diseases, especially when neurologic symptoms are associated with normal results on routine CSF tests.
authors.affiliation: Department of Neurology, Hospital Sant Joan de Déu, University of Barcelona, 08950 Esplugues de Llobregat, Barcelona, Spain. mserrano@hsjdbcn.org
authors.forename: Mercedes
authors.initials: M
authors.lastname: Serrano
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazábal
authors.forename: Jordi
authors.initials: J
authors.lastname: Antón
authors.forename: Juan I
authors.initials: JI
authors.lastname: Aróstegui
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D056587:Cryopyrin-Associated Periodic Syndromes / Q000097:blood / Q000134:cerebrospinal fluid* / Q000235:genetics; D003937:Diagnosis, Differential; D018450:Disease Progression; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D019798:Neopterin / Q000134:cerebrospinal fluid*
chemical_list: D002352:Carrier Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D019798:Neopterin