Case Report: Focal leptomeningeal disease, atypical cancer of unknown primary site

Abstract

Background: Leptomeningeal metastasis is an infrequent form of cancer expression, and it has a poor prognosis due to its torpid evolution and its challenging diagnosis. Case report: We report the case of a 68-year-old woman with rapidly progressing cognitive decline and focal epilepsy. Brain magnetic resonance imaging showed extensive gyriform hypersignal in the right precentral sulcus region, without mass effect, tenuous contrast uptake, and hydrocephalus with transependymal edema. The body tomographic study was negative for solid cancer and the 18F-FDG PET-CT revealed a severe hypermetabolism in the right lung upper lobe. These findings were suggestive of lung cancer with leptomeningeal metastasis. We performed a brain biopsy, finding atypical cells in the leptomeningeal region with positive immunohistochemical staining for CK7 and negative for CK20 corresponding to lung adenocarcinoma. The patient was evaluated in the oncology service and scheduled for radiotherapy and chemotherapy. Conclusions: Focal leptomeningeal disease is an entity that should be considered as a differential diagnosis in all cases of focal leptomeningitis. Timely diagnosis and adequate cancer management can increase patient survival.