Update on diagnosis, treatment, and prognosis in opsoclonus-myoclonus-ataxia syndrome

Opsoclonus-myoclonus-ataxia syndrome (OMS) is a severe autoimmune central nervous system disorder, which predominantly affects young children and causes lifelong neurological disability. Early recognition and treatment may yield better outcomes.

Appreciation of the spectrum of clinical presentations of OMS, awareness of common misdiagnoses, and utilization of diagnostic criteria may facilitate the timely diagnosis of OMS. Approximately 50% of patients have an associated neuroblastoma, which may escape detection by traditional methods and require MRI or computed tomography of the torso for diagnosis. In nonparaneoplastic cases, many associated infections have been reported. Although there has been progress in autoantibody identification and cerebrospinal fluid B cell expansion is a common finding, there is no diagnostic biomarker for OMS currently. Approximately 80% of reported patients, typically treated with conventional therapies such as adrenocorticotropin hormone, corticosteroids, and/or intravenous immunoglobulin, develop long-term neurological morbidity. Newer treatment approaches using early, aggressive therapy with cyclophosphamide or rituximab are promising.

The diagnosis of OMS requires a high level of suspicion and a systematic approach for diagnostic testing, particularly for neuroblastoma. Future collaborative studies are required to determine whether early, aggressive therapy will improve the typically poor long-term neurological outcome.