ABSTRACT
Sensory neuronopathy in association with connective tissue disease is a disabling disorder for which there is no well-established therapy. Various immunosuppressive agents, plasmapheresis, and intravenous immunoglobulin have shown only anecdotal or modest beneficial effects. Tumor necrosis factor alpha is a proinflammatory cytokine that mediates TH1-cell inflammatory responses and is a plausible contributor to dorsal root ganglion injury in sensory neuronopathy. We describe a patient with severe painful and ataxic sensory neuronopathy in association with systemic lupus erythematosus, who showed marked and sustained improvement on etanercept, a tumor necrosis factor alpha inhibitor, despite a chronic and progressive course that was refractory to several immunomodulatory interventions. We review the therapeutic potential of tumor necrosis factor alpha blockade in immune-mediated neuropathies and the reported neurologic complications from its use, most notably central and peripheral demyelination.
Subject(s)
Ataxia/drug therapy , Athetosis/drug therapy , Immunoglobulin G/therapeutic use , Immunologic Factors/therapeutic use , Lupus Erythematosus, Systemic/complications , Paresthesia/drug therapy , Receptors, Tumor Necrosis Factor/therapeutic use , Adult , Ataxia/etiology , Ataxia/immunology , Ataxia/pathology , Athetosis/complications , Athetosis/immunology , Athetosis/pathology , Chronic Disease , Electromyography , Etanercept , Female , Humans , Lupus Erythematosus, Systemic/immunology , Neural Conduction , Neurons, Afferent/immunology , Neurons, Afferent/pathology , Paresthesia/etiology , Paresthesia/immunology , Paresthesia/pathology , Peripheral Nervous System Diseases/complications , Peripheral Nervous System Diseases/drug therapy , Peripheral Nervous System Diseases/immunology , Peripheral Nervous System Diseases/pathology , Recombinant Fusion Proteins/therapeutic use , Treatment OutcomeABSTRACT
Four cases resembling ataxia telangiectasia, all characterized by the absence of telangiectasias, are presented. Two are sisters while the other 2 are sporadic cases. The 2 sisters, aged 14 and 12 years, present a progressive neurological disease similar to that characterizing the Louis-Bar syndrome. The clinical picture in 1 of the sporadic cases, a girl aged 13 years, differs from the typical ataxia telangiectasia in having bilateral pyramidal signs in the lower limbs. The last case, a girl aged 8 years, presents an atypical clinical pattern characterized by a severe mental retardation, quite modest cerebellar signs and absence of involuntary movements. The results of the immunological and cytogenetic investigations are presented and discussed.
