title: Paraneoplastic tumefactive demyelination with underlying combined germ cell cancer.
abstract: Paraneoplastic demyelination is a rare disorder of the central nervous system. We describe a 60-year-old man with tumefactive demyelination who had an underlying retroperitoneal germ cell cancer. He presented with visuospatial problems and memory loss and had a visual field defect. His MRI was interpreted as a glioma but stereotactic biopsy showed active demyelination. Investigation for multiple sclerosis was negative but CT imaging showed retroperitoneal lymphadenopathy, and nodal biopsy confirmed a combined germ cell cancer. He responded poorly to corticosteroid treatment, and his visual field defect progressed. However, 6 months after plasma exchange and successful chemotherapy, he has partially improved clinically and radiographically. Tumefactive demyelination is typically associated with multiple sclerosis but may be paraneoplastic. It is important to recognise paraneoplastic tumefactive demyelination early, as the neurological outcome relies on treating the associated malignancy.
authors.affiliation: Movement Disorder Service, Southmead Hospital, Bristol, UK.
authors.forename: Jack R
authors.initials: JR
authors.lastname: Broadfoot
authors.affiliation: Neurology Department, Southmead Hospital, Bristol, UK.
authors.forename: Hilary A
authors.initials: HA
authors.lastname: Archer
authors.affiliation: Neurology Department, Southmead Hospital, Bristol, UK.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Coulthard
authors.affiliation: Neuroradiology Department, Southmead Hospital, Bristol, UK.
authors.forename: Auke P A
authors.initials: AP
authors.lastname: Appelman
authors.affiliation: Pathology Department, Southmead Hospital, Bristol, UK.
authors.forename: Judit
authors.initials: J
authors.lastname: Sutak
authors.affiliation: Bristol Cancer Institute, University Hospitals, Bristol, UK.
authors.forename: Jeremy P
authors.initials: JP
authors.lastname: Braybrooke
authors.affiliation: Neuropathology Department, Southmead Hospital, Bristol, UK.
authors.forename: Seth
authors.initials: S
authors.lastname: Love
mesh_terms: D015703:Antigens, CD / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology; D001932:Brain Neoplasms / Q000150:complications* / Q000175:diagnosis; D003711:Demyelinating Diseases / Q000150:complications* / Q000175:diagnosis; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009373:Neoplasms, Germ Cell and Embryonal / Q000150:complications* / Q000175:diagnosis; D010257:Paraneoplastic Syndromes / Q000150:complications* / Q000175:diagnosis; D014794:Visual Fields / Q000502:physiology
chemical_list: D015703:Antigens, CD; D005904:Glial Fibrillary Acidic Protein
keywords: demyelination; germ cell cancer; paraneoplastic syndromes, nervous system; seminoma; tumefactive