Virginia Research Day 2025

Medical Student Research Case Reports

04 Teen with Trisomy 18: Challenges and Triumphs of a Long Life with Edwards

Wayne Tate; Kaylie Ward; Zairha G. Snider, MD Corresponding author: wtate@vt.vcom.edu

Edward Via College of Osteopathic Medicine - Virginia Campus NRV Pediatrics, Radford, VA

Trisomy 18, also known as Edwards syndrome, is a rare genetic disorder commonly associated with various congenital malformations, distinct clinical features, and impaired development resulting from an extra copy of chromosome 18. The cumulation of congenital abnormalities associated with the Edwards syndrome results in high morbidity and mortality. Despite advancements in prenatal testing and postnatal management, median survival is 14.5 days, with less than 10% surviving their first year of life. Despite the odds, we present to you a 16-year old female patient with Trisomy 18. Presenting to

clinic for a well-child check, parents offer concerns of seizures increasing in frequency and duration. Her seizures began at the age of 9 and were initially well managed with anti-epileptics. She continued to progress in development and functional status until the age of 11, which marked a plateau and eventual regression of physical and neurologic development. Her seizures progressed to refractory generalized and myoclonic epilepsy, resulting in the placement of a Vagal Nerve Stimulator at the age of 13, permitting months of significant improvement. However, she experienced gradual regression the past three years, despite ongoing management by Pediatric Neurology.

Over the past two decades, there has been an increase in life expectancy among patients with Trisomy 18, accompanied by a rise in medical procedures performed for their care. As these patients live longer, greater emphasis is placed on reports like this, which highlight the evolving clinical course associated with long-term survival in Edwards syndrome Permission to utilize our patient’s medical history and data was obtained by the patient’s parents.

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