ABSTRACT
OBJECTIVE: To evaluate the role of paraneoplastic autoantibody testing in the diagnosis of motor neuron disease (MND). BACKGROUND: There have been rare case reports of paraneoplastic MND that have prompted many physicians to test for paraneoplastic autoantibodies in patients with MND. Our study is the first to determine the utility of such testing. METHODS: Retrospective chart review of patients with MND from a tertiary referral center from 2007 to 2014. RESULTS: Of 316 patients with MND reviewed, 44% (n = 138) were evaluated by a Mayo Clinic paraneoplastic autoantibody panel. Of note, 73% of these patients (n = 101) were diagnosed with amyotrophic lateral sclerosis, fulfilling possible, probable, or definite revised El Escorial criteria. Of note, 9% of patients (13/138) of those who had paraneoplastic antibody testing performed were positive for at least 1 paraneoplastic antibody. Three patients had negative testing for malignancy. None had a different disease course than expected. CONCLUSIONS: Testing for paraneoplastic antibodies does not seem to change the diagnosis, management, or outcome in the setting of MND and is therefore of limited value.
Subject(s)
Antibodies/metabolism , Motor Neuron Disease/diagnosis , Aged , Aged, 80 and over , Calcium Channels, N-Type/immunology , Creatine Kinase/blood , Electromyography , Female , Glutamate Decarboxylase/immunology , Humans , Male , Middle Aged , Motor Neuron Disease/classification , Paraneoplastic Syndromes/complications , Paraneoplastic Syndromes/immunology , Potassium Channels, Voltage-Gated/immunology , Receptors, Nicotinic/immunology , Retrospective StudiesABSTRACT
INTRODUCTION: Chronic inflammatory demyelinating polyneuropathy (CIDP) is an immune-mediated sensory and motor demyelinating polyneuropathy that typically presents as a relapsing-remitting or progressive disorder. Cranial neuropathies infrequently occur in association with other more typical symptoms of CIDP. CASE REPORT: We report a case of CIDP with recurrent isolated sixth nerve palsy. Her physical examination showed a right sixth nerve palsy and absent deep tendon reflexes as the only indicator of her disease. Magnetic resonance imaging revealed thickening without enhancement of the trigeminal and sixth cranial nerves. Nerve conduction study (NCS) revealed a sensory and motor demyelinating polyneuropathy with conduction block and temporal dispersion in multiple nerves consistent with CIDP. Cerebrospinal fluid demonstrated albuminic-cytologic dissociation. She had a remarkable response to intravenous immunoglobulin and remains asymptomatic without any additional immunomodulating therapy. CONCLUSIONS: Isolated cranial neuropathies can rarely occur as the sole manifestation of relapsing-remitting CIDP. The profound demyelination found on NCS in this case demonstrates that there can be a dramatic discordance between the clinical and electrodiagnostic findings in some patients with this disorder.
