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In two children with familial erythrophagocytic lymphohistiocytosis accompanied by neurologic symptoms, total neopterin concentrations in cerebrospinal fluid were 200 times higher than in controls and 10 to 20 times higher than in five children with presumed neurologic disease due to primary viral infections (human immunodeficiency virus, herpes simplex, measles) of the CNS. In one child with familial erythrophagocytic lymphohistiocytosis, clinical remission was accompanied by a fall in neopterin concentrations to normal; in a second child, who died, total neopterin concentrations remained high. In two other children with a diagnosis of infection-associated hemophagocytic syndrome without any neurologic disturbance, neopterin concentrations were also elevated but only to 10 times the concentrations in controls. Total neopterin concentrations in cerebrospinal fluid provide a measure of the severity of macrophage infiltration and activation within the CNS, and are useful in assessing the need for intensive chemotherapy and monitoring the response to treatment.

pediatric research

Central Nervous System Involvement in the Erythrophagocytic Disorders of Infancy: The Role of Cerebrospinal Fluid Neopterins in Their Differential Diagnosis and Clinical Management