Anti-CNTN-1 autoimmune nodopathies with dysarthria at onset - a case report and literature review

Abstract

Abstract BACKGROUND: Anti-CNTN-1 autoimmune nodopathies (AN) is a new and rare diagnosis of peripheral neuropathy proposed by the European Society of Neurology in recent years. Clinical manifestations usually include chronic, subacute or rapidly progressive sensory or motor disorders, sensory ataxia, tremor, and cranial nerve involvement (facial paralysis, eye movement limitation, diplopia, etc. However, anti-CNTN-1 autoimmune nodopathies with dysarthria have rarely been reported. We report a rare young case with dysarthria. Case introduction: This is a case of a 25-year-old male patient with an initial onset of dysarthria and limb tremor. He was initially misdiagnosed withspinocerebellar ataxia (SCA), and the symptoms gradually worsened, including limb weakness, sensory disorders of the limbs, muscle atrophy of the distal lower limbs, and positional dizziness. Neuroelectrophysiological examination showed multiple peripheral nerve damage (motor and sensory damage), and the myelin sheath and axons were involved (mainly the myelin sheath). The blood and cerebrospinal fluid of peripheral neuropathy autoimmune antibody tests indicated that anti-CNTN-1 antibody, the serum GD1b antibody was positive, and a corrected diagnosis of CNTN-1 autoimmune nodopathies. The patient was treated with rituximab, and limb weakness and dysarthria were improved after 3 months of follow-up. Conclusion: Compared with the previously reported cases of anti-CNTN-1 AN, the cases we describe are young patients with dysarthria and limb tremor, highlighting the possibility of this disease presenting as unconventional peripheral nerve onset. We hope this article will improve clinicians' awareness of this kind of disease and reduce the misdiagnosis rate of this disease to help patients diagnose and treat it in time.