Recurrent Ataxia and Dystonia with Anti-Neurochondrin Autoantibodies

We report the case of a 7-years-old boy who developed severe recurrent episodes of ataxia. Following the persistence of intrathecal pleocytosis and oligoclonal bands, auto-immune workup was performed and anti-neurochondrin antibodies in the cerebro-spinal fluid were discovered. Other investigations returned normal, no oncologic accompaniments were found.

Clinical examination identified cerebellar ataxia, cervical dystonia, choreic movements of the upper limbs, action tremor, opsoclonus, dysarthria and akathisis (Video 1). Cognitive affective cerebellar syndrome, including neuropsychological impairment associated with significant emotional lability, was also found.

Initial corticosteroid therapy (intravenous methylprednisolone 30mg/kg for 3 days) resulted in significant improvement. However, following the third relapse, a long-term corticotherapy with monthly intravenous methylprednisolone 500mg/m² was initiated. After 8 months, in order to avoid side effects, this treatment was replaced by mycophenolic acid. No relapse was observed since then. The child currently keeps slightly ataxic gait as well as significant cognitive impairment.

Autoimmune etiologies of movement disorders are increasingly recognized, even in children. Unexplained repeated episodes of ataxia of subacute onset may require a workup with comprehensive neural IgG screening, especially since immune therapies seem more effective than what is observed in adults.