Erdheim-Chester disease: misdiagnosed as multiple sclerosis

Pract Neurol. 2023 Nov 6:pn-2023-003865. doi: 10.1136/pn-2023-003865. Online ahead of print.ABSTRACTErdheim-Chester disease is a rare histiocytic neoplasm with a wide range of clinical manifestations. Due to its rarity and protean characteristics, this condition often presents a diagnostic challenge. A Caucasian woman in her late 60s presented with unsteadiness, dysphagia and dysarthria. She was initially diagnosed with secondary progressive multiple sclerosis but deteriorated over 2 years with a potential lack of therapeutic response. Subsequent investigations resulted in the diagnosis of Erdheim-Chester disease. She received targeted therapy with BRAF and MAPK-pathway inhibitors. Her initial response to treatment has been positive with functional gains and reduced disease burden on MR brain imaging, and with no significant adverse effects.PMID:37932040 | DOI:10.1136/pn-2023-003865
Source: Practical Neurology - Category: Neurology Authors: Source Type: research