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Rutgers physicians successfully treat child with rare disorder

A 5-year-old girl with a rare brain disorder was successfully treated with blood plasma exchanges by Rutgers physicians. – Photo by Arseny Togulev / Unsplash

A team of Rutgers physicians recently successfully treated a child with a rare autoimmune disorder whose condition had not improved from past treatment, according to a press release.

The team focused on the treatment of a 5-year-old female patient who was diagnosed with anti-NMDAR encephalitis, a rare brain malfunction, after presenting symptoms for five days, according to the study

The patient was treated for more than three months with steroids, intravenous antibodies and monoclonal antibodies but failed to improve, also according to the study.

Rutgers physicians eventually moved the patient to the pediatric intensive care unit in Bristol-Myers Squibb Children’s Hospital, after which they performed a series of approximately 12 blood plasma exchanges. These proved to be successful, according to the release.

Prior to the blood plasma exchanges, the patient first suffered involuntary physical movements, slurred speech and psychosis which worsened and eventually led to a catatonic state, according to the study.

The blood plasma exchanges completely reduced the inflammation in the patient's bloodstream which improved cognitive functions like speech and commands.

Dalya Chefitz, a physician in the Department of Pediatrics and director of the Division of Pediatric Hospital Medicine at the Bristol-Myers Squibb Children’s Hospital, said the blood plasma exchanges eventually brought the patient back to her original state of function.

She said the patient went from relying on a feeding tube and needing a strong antipsychotic to being able to feed herself, speak intelligibly, make sense of her surroundings and act like herself pre-diagnosis.

Chefitz also said that this study specifically will provide insight into treatment plans for patients diagnosed with anti-NMDAR encephalitis who do not respond to the first rounds of treatment.

"This case report will help other doctors and families make this difficult decision to treat even though the seeming 'window of opportunity' has passed," Chefitz said.

Typically, patients do not receive this type of treatment after already undergoing first-line therapies, according to Vikram Bhise, lead author of this case study and director of the Division of Child Neurology and Neurodevelopmental Disabilities at Robert Wood Johnson Medical School and the Bristol-Myers Squibb Children’s Hospital.

Bhise said his team decided to try the blood plasma exchange treatment since a significant amount of time had passed since the patient's initial treatments. He said, though, that the likelihood of the plasma exchanges being successful was uncertain.

In addition, he said there has been successful research on these treatment options for patients with autoimmune encephalitis.

In fact, Bhise said he has previously used blood plasma exchanges to treat pediatric patients diagnosed with neuro-inflammatory diseases but begins this course of action immediately rather than after several other treatments.

Bhise said another part of the treatment plan that he found to be unusual was how many rounds of treatment the patient underwent. The usual number would be between three and five blood plasma exchanges, but the patient received 12 blood plasma exchanges in total. 

He said he had paid close attention to the potential risks of such a high number of blood plasma exchanges, such as infection of blood clots, but the patient ultimately did not suffer serious negative side effects. 

“We hope that this review of literature would be instructive to other medical professionals throughout the world that when confronted with a refractory case of autoimmune encephalitis, particularly NMDA-receptor antibody autoimmune encephalitis, that they should consider additional immunotherapy strategies and not assume a poor outcome,” Bhise said. “The conventional wisdom that the acute treatment window is limited may not be applicable here.”

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