Clinical neurodegenerative syndrome LCH (cND-LCH)

There is no established optimal therapy for cND-LCH, and assessment of response can be difficult.[119]

In cND-LCH, T2 FLAIR hyperintense signals are present, most often in the cerebellar white matter, pons, basal ganglia, and, sometimes, in the cerebrum. It is not clear whether LCH changes in the cerebellum, pons, and basal ganglia diagnosed by MRI and without clinical neurological findings should be treated. Early studies suggested that not all LCH-related radiological changes progressed to clinical neurodegenerative disease. However, treatment in the early stages of clinical disease before permanent damage occurs appears to be important. The current recommendation is ongoing neurological evaluation both clinically and with MRI scanning. Therapy starts as soon as clinical neurodegenerative disease progression is noted. It is unclear whether progressive radiological changes should be an indication for treatment.[38]

Other drugs used in active LCH, such as dexamethasone, cladribine, and infliximab, have been used in small numbers of patients with mixed results. Many of these agents may result in the complete or partial resolution of radiographic findings, but definitive clinical response rates have not been rigorously defined.[38,120-123]; [116][Level of evidence C2]

Newer treatment options for patients with cND-LCH include the following:

Early recognition of clinical neurodegeneration and early institution of therapy appear to be vital for success of therapy. Studies combining MRI findings together with CSF markers of demyelination, to identify patients who require therapy even before onset of clinical symptoms, are under way in several countries. Studies of CSF and serum biomarkers in an attempt to predict and prevent neurodegenerative disease are also ongoing.[119]