Diagnostic delay in a case of T-cell neurolymphomatosis.
Vivien LiZane JaunmuktaneKate CwynarskiAisling CarrPublished in: BMJ case reports (2019)
A 69-year-old woman presented with severe subacute painful meningoradiculoneuritis. Neurophysiology showed a patchy, proximal axonal process with widespread denervation. Cerebrospinal fluid (CSF) was lymphocytic (normal T-cell predominant) with negative cytology. MRI revealed multiple sites of enhancement, but fluorodeoxyglucose positron emission tomography was negative. Bone marrow aspirate and trephine (BMAT) showed no evidence of a lymphoproliferative condition. Right brachial plexus biopsy demonstrated mixed T-cell/B-cell endoneurial inflammation not fulfilling criteria for vasculitis. She was stabilised with high-dose steroids and cyclophosphamide, followed by mycophenolate for inflammatory myeloradiculoneuritis. However, symptoms recurred when prednisolone was weaned. Although T-cell receptor gene analysis from the initial CSF demonstrated clonal rearrangements, it was only when the same clones were identified on two repeat BMATs and CSF that T-cell neurolymphomatosis, an exceedingly rare condition, was diagnosed. This case highlights the diagnostic challenge in peripheral neurolymphomatosis related to patchy disease, variable sensitivity and specificity of investigative tools, and the influence of therapies on traditional cytological definitions of lymphoma. The clinical picture, exhaustive exclusion of alternative causes and the persistence of an abnormal T-cell clone ultimately lead to a diagnostic consensus between specialist neurology and haematology clinicians.
Keyphrases
- positron emission tomography
- cerebrospinal fluid
- computed tomography
- high dose
- fine needle aspiration
- bone marrow
- oxidative stress
- pet ct
- low dose
- palliative care
- magnetic resonance imaging
- ultrasound guided
- pet imaging
- mesenchymal stem cells
- spinal cord injury
- contrast enhanced
- high grade
- stem cell transplantation
- genome wide
- early onset
- single cell
- diffuse large b cell lymphoma
- dna methylation
- optical coherence tomography
- binding protein