Abstract

SummaryPatients with Langerhans cell histiocytosis (LCH) may develop progressive neurodegeneration in the central nervous system (ND‐CNS‐LCH). Neurofilament light protein (NFL) in cerebrospinal fluid (CSF) is a promising biomarker to detect and monitor ND‐CNS‐LCH. We compared paired samples of NFL in plasma (p‐NFL) and CSF in 10 patients (19 samples). Nine samples had abnormal CSF‐NFL (defined as ≥380 ng/l) with corresponding p‐NFL ≥ 2 ng/l. Ten samples had CSF‐NFL < 380 ng/l; eight (80%) with p‐NFL < 2 ng/l (p < 0.001; Fisher's exact test). Thus, our results suggest that p‐NFL may be used to screen for ND‐CNS‐LCH. Further studies are encouraged, including the role of p‐NFL for monitoring of ND‐CNS‐LCH.

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