Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare and debilitating disease of the brain that primarily affects young children. Its principal symptoms include subacute ataxia, myoclonic movements, opsoclonic eye movements, and behavioral changes. Thought to be autoimmune in nature, it is commonly associated with neural crest tumors, especially neuroblastoma (Figure 1). In fact, because OMAS has no specific biomarker, the detection of a tumor can help to establish the diagnosis of OMAS in a child with ataxia.
At least half of the children diagnosed with OMAS have a neuroblastoma. However, in many cases, detection of the neuroblastoma is delayed by months or even years, despite an exhaustive search. This delay in tumor detection can delay the diagnosis of OMAS, delay treatment of the tumor, and worsen the clinical course and outcome for the affected child. For this reason, Dr. Celia Greenlaw is investigating the factors that lead to delayed detection of neuroblastoma in patients with OMAS (Figure 1).
Dr. Greenlaw is a pediatric neurologist and a second-year fellow in Pediatric Neuroimmunology at Boston Children’s Hospital. She was drawn to the field of neuroimmunology by the fascinating interplay between the immune system and nervous system and by the striking symptoms and sometimes dramatic responses to treatment of neurology patients with immune-mediated diseases.
Along with her mentor, Dr. Mark Gorman, an internationally recognized expert on OMAS, she has formulated the hypothesis that timing of neuroblastoma detection in OMAS is influenced by a variety of factors that include tumor size, location, stage, and metabolic activity. To conduct this research, she is conducting a retrospective study utilizing two large multinational, multicenter databases of pediatric-onset OMAS patients. Her preliminary data suggest that tumor size plays the largest role in determining time to detection, with each centimeter of tumor diameter reducing time to diagnosis by almost 2 weeks.
Dr. Greenlaw’s research project and fellowship training are funded by the Lauren Mantz Opsoclonus Myoclonus Syndrome Fellowship Fund. This fund was established by the parents of Lauren Mantz, a patient with OMAS who has been evaluated and treated by Dr. Gorman and Dr. Greenlaw. Whereas Lauren Mantz had a delayed diagnosis of neuroblastoma, it is particularly fitting that Dr. Greenlaw is using the fund, established in Lauren’s name, to advance the detection of neuroblastoma in OMAS.