VCOM Research Day Program Book 2023

Medical Student Research Case Reports

10 Pediatric Management of Trisomy 18 in the Teenage Years

Seth Pekoe, MS; Zairha Snider, MD Corresponding author: spekoe@vcom.edu

Edward Via College of Osteopathic Medicine-Virginia Campus

Trisomy 18, also known as Edwards syndrome is a rare genetic disease that can occur due to the full, partial, or mosaic presence of an additional 18th chromosome. The most common of this chromosomal mutation being full. Trisomy 18 carries a poor prognosis as less than ten percent of all infants born with Trisomy 18 make it to the first twelve months of life. Fatal complications usually occur due to the neonate being of low birth weight as well as due to an array of congenital cardiac defects, developmental delays, gastrointestinal deformities, central nervous system malformations, and respiratory difficulties. If the patient is fortunate enough to make it past the first year of life, they will continue to have severe mental and physical debilitations that require constant care and extensive parent education. There is no known cure or definitive treatment for patients with Edwards syndrome and each case is distinct and as such, the importance of personalized care is crucial to

attaining the best quality of life. The current literature involving Trisomy 18 patients surviving into the teenage years is limited at this time but in the past five to ten years more examples of longevity have been documented. This case report will demonstrate the rare, individualized management of one of these types of patients which will add to the small but growing number of known cases involving Trisomy 18 as it is managed in late adolescence to teenage years. As Edwards syndrome carries multiple visceral congenital anomalies it poses a particularly complex and unique challenge for pediatric specialists while requiring routine evaluation by multiple specialties. This case study details a 14-year-old mixed race female with full Trisomy 18 who presents to her pediatrician’s office for complaints of cold symptoms. This encounter for cold symptoms occurred 3 weeks after her 14 year well child checkup where labs were reviewed and the patient received a treatment

plan. The 14-year-old patient in this study has a past medical history complicated by Dandy Walker malformation, developmental delay, Lennox-Gastaut syndrome, atrial septal defect status post repair, ventral septal defect status post repair, patent ductus arteriosus status post ligation, recurrent urinary tract infections, bowel malrotation correction, omphalocele repair, and gastrostomy tube dependence. The aim of this case study is to provide additional knowledge to the current literature concerning the importance of individualized care in the complex management of Trisomy 18 patients as they age into their teen years

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