Rheumatologists at some point may be asked to consult and evaluate children with central nervous system (CNS) dysfunction related to an autoinflammatory disease, and an educational session at ACR Convergence 2020 will help both pediatric and adult rheumatologists learn how to approach these cases in collaboration with their neurology colleagues.
The initial showing of Neurologic Manifestations of Autoinflammatory Disorders will take place on Saturday, Nov. 7, from 3 – 4 p.m. EST and feature a live question-and-answer session in addition to three presentations. Registered annual meeting attendees also can access the session on demand until March 11, 2021.
Ariane Soldatos, MD, MPH, pediatric neurologist at the NIH clinical center, explains that the session will highlight the central nervous system involvement in select and rare autoinflammatory diseases such as neonatal onset multisystem inflammatory disease, or NOMID/CINCA, Muckle-Wells syndrome, DADA2 and interferonopathies along with neurologic conditions that include FIRES syndrome (infection-related epilepsy syndrome), acute necrotizing encephalitis and acute hemorrhagic leukoencephalitis. While the session will present pediatric patients as examples of these various diseases, adults may also be diagnosed with these diseases.
Dr. Soldatos will review neurologic manifestations of autoinflammatory monogenic conditions. She will be joined by Rosie Scuccimarri, MD, pediatric rheumatologist, Montreal Children’s Hospital, and associate professor, Department of Pediatrics, McGill University, who will review when to suspect an auto-inflammatory condition in children with neurologic dysfunction, and Dr. Jessica Carpenter, neurocritical care program director, Children’s National Medical Center, who will discuss what rheumatologists need to know about catastrophic neurologic conditions and immune dysregulation.
The presenters will review neurological signs and symptoms, as well as clues available in both spinal fluid analyses and brain imaging. In addition, Dr Scuccimarri will present other associated symptoms that might point towards one or another autoinflammatory disease, investigations that may assist in diagnosis and the potential treatments for these diseases. The session also will emphasize the importance of interdisciplinary collaboration between rheumatologists and neurologists in these complex cases.
“The importance of early genetic testing in these patients is that it can significantly shorten the diagnostic odyssey,” Dr. Soldatos said. “Moreover, this will also limit the number of sequential empiric treatment trials, and instead allow honing in more rapidly on a targeted and effective treatment option. This will mitigate accrual of neurological morbidity and improve neurodevelopmental outcomes.”