Merimna’s interdisciplinary Pediatric Palliative Home Care team (PPC), made a presentation (e-poster), entitled “Ralgapa 1 Syndrome”, at the 2nd Summer Perinatology School, held in Nafplio, on 6-8/9/2024. The presentation was about a child in the care of the PPC, who has been diagnosed with Ralgapa 1 syndrome. There are only 4 cases recorded worldwide with this syndrome.
In all the cases, neurological disorders, facial-eye deformities, and particularly severe gastrointestinal disorders were identified. The scarce literature reports, the rarity of the syndrome and the severity of the clinical phenotype of children with Ralgapa syndrome1, make it imperative to record and present the cases and to use the data for the evolution of the medical and nursing therapeutic approach.
The presentation was prepared by Tzortzina Tsepani (RN -CPN, MSc), Vasilakopoulou Dimitra (RN, MSc in PH), Antonia Moutafi (pediatrician, MD, MSc, PhD), Ioannis Drikos (pediatrician, MD, MSc, PhD)
