Systemic and Craniospinal Rosai Dorfman Disease with Intraparenchymal, Intramedullary and Leptomeningeal Disease

Yi Li MD; Emily Sloan; Andrew   Bollen; David Solomon; Philip Theodosopoulos; Soonmee Cha

doi:10.18502/ijhoscr.v15i4.7482

Yi Li MD Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, California, United States
Emily Sloan Department of Pathology, University of California San Francisco, San Francisco, California, United States
Andrew Bollen Department of Pathology, University of California San Francisco, San Francisco, California, United States
David Solomon Department of Pathology, University of California San Francisco, San Francisco, California, United States
Philip Theodosopoulos Department of Neurological Surgery, University of California, San Francisco, San Francisco, California, United States
Soonmee Cha Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, California, United States

DOI: https://doi.org/10.18502/ijhoscr.v15i4.7482

Keywords: Rosai dorfman disease; histiocytosis; BRAF

Abstract

Rosai Dorfman disease is a rare histiocytic disorder of over-production of non-Langerhans histiocytes, which typically manifests with massive lymphadenopathy and sinonasal involvement. We report a rare case of systemic and disseminated craniospinal Rosai-Dorfman disease with intraparenchymal and leptomeningeal involvement, but no sinus or dural-based disease. The diagnosis was established by biopsy of a hypothalamic mass. Additionally, UCSF500 Next Generation Sequencing demonstrated a solitary pathogenic alteration affecting the BRAF oncogene, which supports the morphologic and immunohistochemical diagnosis of Rosai-Dorfman disease.