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Opsoclonus-myoclonus-ataxia syndrome in children.

Poonam BhatiaJennifer HeimPatricia CornejoLauren KaneJason SantiagoMichael C Kruer
Published in: Journal of neurology (2021)
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.
Keyphrases
  • young adults
  • cerebrospinal fluid
  • early onset
  • case report
  • high resolution
  • type diabetes
  • pulmonary embolism
  • metabolic syndrome
  • mass spectrometry
  • adipose tissue
  • physical activity