Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome

Pediatric Neurology
Mercedes SerranoAngels García-Cazorla

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 utili...Continue Reading

References

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Citations

Nov 26, 2010·Current Allergy and Asthma Reports·Justin R Yu, Kieron S Leslie
Jun 9, 2016·Revista Brasileira De Reumatologia·Maria Teresa R A TerreriClaudia Saad Magalhães
Feb 6, 2016·Cephalalgia : an International Journal of Headache·C HöhneA Straube
Jan 7, 2021·Journal of Clinical Medicine·Tatjana Welzel, Jasmin B Kuemmerle-Deschner

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