Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome

• Published in: Medicina (Kaunas, Lithuania) Lithuania), 2019-07, Vol.55 (7), p.352
• Main Authors: Ferreira de Souza, Leonardo Moura, Galvão E Brito Medeiros, Augusto, Júnior, José Paulo Ribeiro, de Melo, Aurea Nogueira, Dias, Sylvyo André Morais Medeiros
• Format: Article
• Language: English
• Subjects: aneuploidy; Case Report; Child; Dandy-Walker; Dandy-Walker Syndrome - complications; Dandy-Walker Syndrome - diagnostic imaging; Dandy-Walker Syndrome - mortality; Edwards syndrome; Female; Humans; long-term survival; Time Factors; Tomography, X-Ray Computed - methods; trisomy 18; Trisomy 18 Syndrome - complications; Trisomy 18 Syndrome - diagnostic imaging; Trisomy 18 Syndrome - mortality
• ISSN: 1648-9144; 1010-660X; 1648-9144; 1010-660X
• DOI: 10.3390/medicina55070352

Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Cardiac surgery was performed at one year and seven months. Early surgical intervention and multidisciplinary follow-up may change the clinical outcome of the disease. Further studies are required to evaluate the benefit of invasive procedures such as cardiac surgery on survival of patients with trisomy 18.