Abstract
A 64 year-old immunosuppressed man presents with three episodes of acuteneurological deficit in context of autoimmunity (chronic myelomonocytic leukaemia, autoimmune haemolytic anaemia and psoriasis).
He presented with left frontotemporal headache, left monocular inferior altitudinal defect and reduced colour vision. Brain magnetic resonance imaging (MRI) revealed optic nerve contrast enhancement and T2 hyperintense brainstem lesion. He responded to intravenous methylprednisolone.
Eight weeks later, he developed left hemiparesis. MRI brain and spine revealed brainstem, cerebellum, callosal and thoracic cord lesions, some with open-ring enhancement. Biopsy showed acute demyelination. CSF examination revealed markedly elevated protein 3.45g/L and negative oligoclonal bands. Anti-MOG and aquaporin-4 antibodies were negative. The patient improved with ongoing prednisolone 10mg.
Four weeks later, he had acute bilateral visual loss. MRI brain demonstrated chiasmal and optic tract enhancing lesion and bi-occipital white matter lesions. Plasmapharesis provided moderate response following poor steroid response.
Tumefactive demyelination of uncertain aetiology was diagnosed, and he is currently on Rituximab.
Tumefactive demyelination is a radio-pathological syndrome with numerous causes, most often multiple sclerosis, and may occur at any age. Predominantly white matter lesions >2cm with gadolinium enhancement and open ring appearances are seen on MRI. Clinical presentation is often relapsing-remitting and atypical for demyelination. Associated conditions include HIV, syphilis, germ-cell tumours, multiple sclerosis and neuromyelitis optica spectrum disorder. Whilst diagnosis may be made on imaging and clinical findings alone, biopsy can support diagnosis and exclude differentials. Despite limited evidence, treatments include corticosteroids, plasmapheresis and rituximab. Disease modifying therapy may be considered excluding fingolimod and natalizumab.
