Objective:

To report a case of anti-IgLON5 disease demonstrating cervical dystonia as part of the clinical picture.

Background:

Anti-IgLON5 disease is a rare autoimmune encephalitis first documented in 2014 and has a frequency of being found in approximately 1 out of 150,000 patients. The typical presentation for this condition is parasomnia, gait difficulty, and bulbar dysfunction, however it can manifest initially with movement disorder. It is however rarer to present as anterior cervical dystonia as one of the prominent symptoms.

Design/Methods:

Case Report

Results:

We present a case of 67-year-old male with initial symptoms in early 2022 of thumping in the chest. Later, balance problems followed in late 2022, and around the beginning of 2023, there was progressive onset of anterior cervical dystonia with associated progression of encephalopathy and parasomnia. At this time, the patient also began to have developed a tremor in his hands.. A neurodiagnostic workup was completed including lumbar puncture and MRI brain, which were nonspecific. In early 2023, his disease had progressed with worsening central apnea leading to sudden episodes of respiratory arrest. The CSF results yielded positivity for IgLON5 antibodies. CSF results also showed an elevated protein of 98 and 7 WBCs with 100% lymphocytes. An EEG in June 2023 showed occasional left temporal lobe slowing. The patient was treated with IVIG, PLEX, and rituximab which provided a modest improvement in symptoms. 

Conclusions:

We present a unique case of anterior cervical dystonia in a patient with the rare autoimmune condition of anti-IgLON5 disease. This was a slowly progressive case with the diagnosis made through positive CSF IgLON5 antibodies. Anti-IgLON5 is a heterogeneous disease. This case adds the presentation of cervical dystonia to the list of potential clinical manifestations of this disease.