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Opsoclonus–myoclonus–ataxia syndrome in children

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Abstract

Opsoclonus–myoclonus–ataxia syndrome is a rare neuroimmunologic disorder typically presenting in previously healthy infants and toddlers. It is characterized by a clinical triad of (1) erratic saccadic intrusions; (2) myoclonus and/or ataxia; (3) behavioral features, typified by developmental plateauing, irritability and insomnia. About half of cases are associated with an underlying neuroblastoma and diagnostic imaging is essential once OMAS is suspected. A thorough workup, including serum, urine, and cerebrospinal fluid studies is critical to identify underlying biomarkers of OMAS itself or neuroblastoma. Historically, many children had relatively poor long-term outcomes, with residual neurologic and/or neuropsychiatry sequelae typical. More recent concepts have emphasized combined immunotherapy regimens that offer hope for better outcomes in children with this remarkable, challenging disease.

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Acknowledgements

The authors express their appreciation of the seminal contributions that Michael R Pranzatelli made to the understanding and treatment of this disease and to the OMSLife Foundation (https://omslifefoundation.org/) for their ongoing commitment to patients and families affected by this disease.

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Authors and Affiliations

  1. Pediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children’s Hospital, 1919 E Thomas Rd, Phoenix, AZ, 85016, USA

    Poonam Bhatia, Jennifer Heim, Lauren Kane, Jason Santiago & Michael C. Kruer

  2. Pediatric Neuroimmunology Program, Barrow Neurological Institute, Phoenix Children’s Hospital, Phoenix, AZ, USA

    Lauren Kane & Michael C. Kruer

  3. Department of Radiology, Phoenix Children’s Hospital, Phoenix, AZ, USA

    Poonam Bhatia & Patricia Cornejo

  4. Department of Child Health, University of Arizona College of Medicine - Phoenix, Phoenix, AZ, USA

    Michael C. Kruer

Authors
  1. Poonam Bhatia
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  2. Jennifer Heim
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  3. Patricia Cornejo
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  4. Lauren Kane
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  5. Jason Santiago
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  6. Michael C. Kruer
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Corresponding author

Correspondence to Michael C. Kruer.

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Conflict of interest

MCK serves as a consultant for the United States Health Research Services Administration. The remaining authors report no conflicts of interest relevant to this work.

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Bhatia, P., Heim, J., Cornejo, P. et al. Opsoclonus–myoclonus–ataxia syndrome in children. J Neurol 269, 750–757 (2022). https://doi.org/10.1007/s00415-021-10536-3

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  • DOI: https://doi.org/10.1007/s00415-021-10536-3

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