Erdheim-Chester disease: misdiagnosed as multiple sclerosis

Erdheim-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.