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Research Week Abstract Book - Northern Health

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Haematology<br />

HaematOLOGY<br />

HIGH-DOSE METHOTREXATE FOR THE TREATMENT OF RELAPseD Csn ERDheim<br />

CHESTER Disease<br />

Ho P and Smith C.<br />

Background<br />

Erdheim-Chester disease (ECD) is a rare non-Langerhan’s histiocytosis with multi-system involvement including central<br />

nervous system (CNS) disease which confers a poorer prognosis. There is no definitive treatment for ECD, though interferonalpha<br />

may be useful for non-CNS disease, if given for more than 3 months.<br />

Case Report<br />

A 60-year old lady with a 5-year history of stable non-CNS ECD presents with 4 days of diplopia and right arm numbness.<br />

Neurological examination revealed a horizontal gaze palsy and right arm paraesthesia. The MRI demonstrated extensive<br />

brainstem/cerebellar lesion but the PET/CT revealed stable systemic disease. CSF analysis showed raised protein (3.12g/L)<br />

but no evidence of infection or malignancy.<br />

During the first 72-hour period, the patient developed dysarthria and ataxia, necessitating urgent treatment. Interferon-alpha<br />

was not ideal due to its slow onset of action and poor CNS penetration.<br />

High-dose methotrexate was chosen due to its excellent CNS penetration and known therapeutic effect on CNS lymphoma.<br />

This treatment arrested the rapid progression and led to significant improvement in her speech and ataxia. A post-induction<br />

MRI showed a reduction in the size of the brainstem/cerebellar lesion and CSF protein reduced.<br />

The patient remained stable with ongoing high-dose methotrexate for 4 months, but subsequently developed new right-sided<br />

weakness and an increase in the size of her brainstem lesion. She is currently being treated with interferon-alpha.<br />

Conclusion<br />

We describe a case of CNS relapse of ECD in the setting of well controlled systemic disease. High-dose methotrexate was<br />

an effective initial salvage agent but further systemic treatment (e.g. interferon-alpha) may be necessary for a sustained longterm<br />

response.<br />

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