RESUMEN
TITLE: Neurolinfomatosis primaria de cola de caballo como manifestacion inicial del virus de la inmunodeficiencia humana.
Asunto(s)
Cauda Equina/patología , Linfoma Relacionado con SIDA/diagnóstico , Linfoma de Células B Grandes Difuso/diagnóstico por imagen , Neurolinfomatosis/etiología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Carcinoma de Células Renales , Cauda Equina/diagnóstico por imagen , Citarabina/administración & dosificación , Trastornos Neurológicos de la Marcha/etiología , Humanos , Neoplasias Renales , Linfoma Relacionado con SIDA/líquido cefalorraquídeo , Linfoma Relacionado con SIDA/diagnóstico por imagen , Linfoma Relacionado con SIDA/tratamiento farmacológico , Linfoma de Células B Grandes Difuso/líquido cefalorraquídeo , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Linfoma de Células B Grandes Difuso/etiología , Masculino , Metotrexato/administración & dosificación , Persona de Mediana Edad , Neoplasias Primarias Secundarias/diagnóstico , Neoplasias Primarias Secundarias/diagnóstico por imagen , Neoplasias Primarias Secundarias/tratamiento farmacológico , Neoplasias Primarias Secundarias/etiología , Neurolinfomatosis/líquido cefalorraquídeo , Neurolinfomatosis/diagnóstico por imagen , Neurolinfomatosis/tratamiento farmacológico , Rituximab/administración & dosificaciónRESUMEN
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.
Asunto(s)
Líquido Cefalorraquídeo/citología , Diagnóstico Tardío/efectos adversos , Neurolinfomatosis/patología , Linfocitos T/metabolismo , Administración Intravenosa , Corticoesteroides/administración & dosificación , Corticoesteroides/uso terapéutico , Anciano , Médula Ósea/patología , Plexo Braquial/patología , Ciclosporina/administración & dosificación , Ciclosporina/uso terapéutico , Diagnóstico Diferencial , Resultado Fatal , Femenino , Fluorodesoxiglucosa F18 , Reordenamiento Génico de Linfocito T , Humanos , Inmunosupresores/administración & dosificación , Inmunosupresores/uso terapéutico , Imagen por Resonancia Magnética/métodos , Neurolinfomatosis/líquido cefalorraquídeo , Tomografía de Emisión de Positrones/métodos , Linfocitos T/patologíaRESUMEN
Infiltration of the peripheral nervous system (PNS) by lymphoma, called neurolymphomatosis, is a rare condition among the spectrum of lymphoma-associated neuropathies; its diagnosis is challenging. Cerebrospinal fluid (CSF) analysis is of great value, but nerve biopsy (NB) may be necessary to prove invasion by malignant cells. Clonality polymerase chain reaction (PCR)-based analysis is a validated method in the diagnosis of hematological malignancies, but there are very little data on its diagnostic yield on NB samples. We explored the contribution of NB with clonality analysis to the diagnosis of neurolymphomatosis in 15 patients with negative CSF analysis. Moreover, we assessed the performance of clonality testing in a case-control manner, using patients with inflammatory infiltrates on NB as controls. Neurolymphomatosis was the first manifestation of lymphoma in 60% and could be diagnosed on routine histology alone in 40%. Clonality testing showed monoclonal rearrangement in 86.7% and was unsuccessful in 8.1%. Performance of clonality testing was as follows: 92.9% positive predictive value, 90% negative predictive value, 86.7% sensitivity, 94.7% specificity. This study confirms the diagnostic challenge of neurolymphomatosis, the usefulness of NB in patients with negative CSF analysis, and highlights the high yield of PCR-based clonality testing to assess the malignant nature of PNS lymphoid infiltrates.