R.M. Bouttelgier MD, M. Verhé MD, J. Van Droogenbroeck MD, L.J. Vanopdenbosch MD, PhD
In this article, we present a case of a 53-year-old female multiple myeloma patient who was diagnosed with leptomeningeal myelomatosis after two years of treatment. This extramedullary presentation is extremely rare and occurs in less than 1% of multiple myeloma patients. Leptomeningeal myelomatosis most commonly manifests with headache, confusion, cerebral nerve palsy and radiculopathy. When leptomeningeal myelomatosis is suspected, the first step in diagnosis is contrast-enhanced magnetic resonance imaging (MRI). However, cerebrospinal fluid (CSF) analysis is imperative for definite diagnosis. Leptomeningeal myelomatosis is commonly associated with high-risk genetic features including deletion of 17p (TP53), absence of CD56, IgA or IgD paraprotein and lambda subtype. Leptomeningeal myelomatosis has a poor prognosis with an expected survival in terms of months after diagnosis. There is no standard treatment. However, there is some evidence for promising results of therapy with marizomib and pomalidomide.