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

Authors
  • Moura Ferreira de Souza, Leonardo1
  • Galvão e Brito Medeiros, Augusto2
  • Ribeiro Júnior, José Paulo2
  • Nogueira de Melo, Aurea1
  • Dias, Sylvyo André Morais Medeiros2
  • 1 Department of Pediatric of Federal, University of Rio Grande do Norte, Natal 58051-900, Brazil
  • 2 Federal University of Rio Grande do Norte, Natal 58051-900, Brazil
Type
Published Article
Journal
Medicina
Publisher
MDPI
Publication Date
Jul 08, 2019
Volume
55
Issue
7
Identifiers
DOI: 10.3390/medicina55070352
PMID: 31288482
PMCID: PMC6681329
Source
PubMed Central
Keywords
License
Green

Abstract

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.

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