Mohamad Banat
Surviving trisomy 18: a case report of a 5-year-old girl
Journal title : Medicine
Publisher : Ovid Technologies (Wolters Kluwer Health)
Online ISSN : 1536-5964
Page Number : e44225
Journal volume : 104
Journal issue : 35
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Rationale: Trisomy 18, often known as Edwards syndrome. It is a common chromosomal disorder characterized by the presence of an extra chromosome 18. Unfortunately, survival past the first year is quite rare, and there are only a few reports of individuals living long-term without needing corrective surgery. This case sheds light on an unusual situation where a patient survived for an extended period despite having severe congenital heart defects. Patient concerns: A 5-year-old girl, already diagnosed with trisomy 18, was admitted to the hospital after experiencing a cough and diarrhea that started after she began taking a nutritional powder supplement. The patient had a history of admission to neonatal intensive care for 1 month due to transient tachypnea of the newborn, mild retractions, and grunting. Additionally, she had intrauterine growth restrictions, dysmorphic features, and hypotonia. Diagnoses: Clinical examination revealed dysmorphic features, hypoxia, and a cardiac murmur. Chest radiography reveals central infiltration with cardiothoracic ratio 60%. Genetic testing confirmed the presence of trisomy 18, and an echocardiogram showed multiple congenital defects with significant right ventricular hypertrophy. Interventions: Initial management began with administering oxygen, performing metabolic tests, and a chest x-ray. However, because of ongoing low oxygen levels linked to her heart defects and pulmonary hypertension, long-term home oxygen therapy was initiated. A comprehensive supportive care with multidisciplinary team support was the main management. Outcomes: Throughout her treatment, oxygen saturation did not exceed 85%, and the patient’s development has remained severely delayed, with no significant motor or cognitive milestones. The patient had a long life expectancy for her complex heart defects, but eventually died of cardiac arrest. Lessons: This case shows the possibility of prolonged survival in trisomy 18, even with severe congenital heart defects, emphasizing the importance of multidisciplinary management and family-centered counseling. Documenting such cases expands understanding of this syndrome and guides long-term care strategies.
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DOI : https://doi.org/10.1097/MD.0000000000044225
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