UPMC Children’s Child Neurology Faculty Co-Author New Reviews in Special Edition of Seminars in Pediatric Neurology
December 12, 2024
A special edition of the journal Seminars in Pediatric Neurology published in December 2024 features review articles co-authored by UPMC Children’s Hospital of Pittsburgh Division of Child Neurology faculty and trainees.
The special edition of the journal is devoted to “Neurocutaneous Disorders of Childhood and Adolescence.”
Elissa Ortolani, MD, assistant professor of Pediatrics and co-director of the Pediatric Stroke Program at UPMC Children’s co-authored a review on “Hereditary Hemorrhagic Telangiectasia: A Pediatric-Focused Review.” Dr. Ortolani’s co-author of the review was former division resident, Chelsey Ortman, MD.
The review discusses hereditary hemorrhagic telangiectasia (HHT), a genetic disorder characterized by vascular malformations affecting multiple organs. The review covers diagnostic criteria, genetic causes, and current management strategies, including medical, endovascular, and surgical interventions.
A second review article in the special edition, “Ataxia Telangiectasia,” was coauthored by Deepa S. Rajan, MD, FAAP, associate profess or Pediatrics, director of Neurogenetics, and director of the Program for the Study of Neurodevelopmental in Rare Disorders (NDRD). Dr. Rajan was joined in writing the review by division fellow, John Collyer, MD.
Dr. Rajan and Dr. Collyer’s review article examines ataxia telangiectasia (AT), a rare genetic disorder caused by mutations in the ATM gene. The review discusses AT's neurological, immunologic, oncologic, and other systemic complications, as well as current research into potential therapies.
Both review articles are open access and can be read/downloaded using the links below, in addition to the full issue of the journal’s special edition.
References
