Edwards Syndrome: Family positive effects when life survival surpasses the expectation. Case report.

A E Chiaradia,A L Yanai,A Silva

doi:10.36560/14220211291

A E Chiaradia, A L Yanai + Show 1 more

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https://doi.org/10.36560/14220211291

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Abstract

Aim: Reporting the case of a patient with Edwards syndrome of above-average survival. Edwards syndrome is a chromosomal disorder with multiple and severe congenital malformations, a profound delay in neuropsychomotor development, and an average survival of around 2.5 to 14.5 days.Description: Patient age of seven years and six months, female, who presented at birth, congenital heart disease, microcephaly, micrognathia, cutis marmorata, pectus escavatum and other typical alterations of Edwards Syndrome. Intensive interventions were performed, and karyotype exam confirmed full trisomy of chromosome 18. The patient currently undergoes intensive occupational and speech-language therapy, physiotherapy, and is stable.Comments: Edwards syndrome has a reserved prognosis, and although it is proven that aggressive interventions improve the survival of these patients, there is still no consensus in neonatal resuscitation protocols, and there are differences in perception about prognosis and therapeutic recommendations. However, parental autonomy must always be considered, and it is known that patients who survive to childhood bring positive results in the family circle. The discussion of prognosis and therapy is necessary and should aim at the homogenization of medical conduct

Highlights

Trisomy 18, known as EdwardsSyndrome, was first described in 1960 by John Edwards, who reported the case of a newborn with "peculiar facies, winged neck, congenital heart disease, neonatal hepatitis and other minor abnormalities", later associating this clinical picture with the extra copy of a small chromosome (EDWARDS, 1960)
Its incidence is estimated at approximately 1/6000 live births; most children die before completing 15 days, and only 5% manage to exceed the first year of life (IMATAKA, 2016) (RASMUSSEN, 2003) (CRIDER, 2008)
It is important to highlight that the syndrome has high rates of spontaneous abortions during the gestational period, so that the real incidence may be even higher (RASMUSSEN, 2003) (ROSA, 2013) (CEREDA & CAREY, 2012) (DOTTERS-KATZ, 2016)