Surviving trisomy 18: A case report of a 5-year-old girl

Abstract

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.

Keywords: Edwards syndrome; case report; congenital heart defects; long-term survival; trisomy 18.

Figure 1.

Facial picture showing dysmorphic features of Edward syndrome including: large forehead, low set ears, hypertelorism, unilateral ptosis, micrognathia, and upturned nose (The photos were taken with the consent of the patient’s parents.).

Figure 2.

Clenched hand with overlapping of second and fifth fingers over the third and fourth figures, respectively (The photos were taken with the consent of the patient’s parents.).

Figure 3.

Bilateral clubfoot and curly toes combined with pronounced muscular atrophy (The photos were taken with the consent of the patient’s parents.).