Revista Ciencias Biomédicas
Síndrome de Edwards: acerca de un caso de supervivencia inusual
By Marlene Durán Lengua, Alfonso Arias and Nelson Muñoz Álvarez.
Abstract
Introduction
Edwards syndrome is the most common aneuploidy in the human race, after Down syndrome. It is caused by a trisomy of chromosome 18. Its clinical manifestations can be variable, but weight-height delay, dysmorphic appearance; permanent psychomotor and cognitive deficits are common, in addition to a first-year survival prognosis of 4 to 10%, according to the reports. The care of patients with trisomy has varied from a restrictive and conservative approach, to the current management consistent with multidisciplinary management mediated by shared decision-making between physicians and parents.
Case report
it is a 4-year-old girl, diagnosed by karyotype, G-banding technique that showed trisomy of chromosome 18 in all metaphases. She received a diagnosis before birth of chromosomopathy, the patient presented with phenotypic alterations such as weight-height delay, dysmorphic appearance, permanent psychomotor and cognitive deficits, as well as skeletal dysplasia, cleft lip, cleft palate, heart disease, and megacisterna magna due to cerebellar hypoplasia. The patient has been treated with restrictive management by some doctors and advanced treatments in other circumstances, thus reaching the age of 4 years. At present, the patient receives management and follow-up by several specialists.