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

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.

Keywords: Dandy-Walker; Edwards syndrome; aneuploidy; long-term survival; trisomy 18.

Figure 1

10-year-old girl presenting phenotypic changes from trisomy 18 and Dandy-Walker Syndrome, including low weight, poor bone structure and signs of cognitive delay.

Figure 2

Syndactyly between the third and fourth left fingers in a 10-year-old girl with trisomy 18 and Dandy-Walker Syndrome.

Figure 3

Patient’s karyotype, showing complete trisomy of chromosome 18.

Figure 4

Urinary urethrocystography evidencing marked scoliosis and signs of neurogenic bladder in a 10-year-old girl with trisomy 18 and Dandy-Walker Syndrome.

Figure 5

Computed tomography, without contrast of the head, showing massive cystic formation in the posterior fossa inferiorly compressing the occipital parenchyma; hypoplasia of cerebellar vermis with calcifications in the left cerebellar hemisphere. Findings compatible with Dandy-Walker syndrome.