Naslov
Intensive care of newborn with edwards syndrome – case report

Autori
Božić, Tomica ; Pupić-Bakrač, Jure ; Brkić, Vesna ; Šumanović Glamuzina, Darinka ; Jerković Raguž, Marijana ; Bošnjak, Marija ; Mustapić, Antonija ; Pupić-Bakrač, Ana

Izvornik
Gynaecologia et perinatologia : journal for gynaecology, perinatology, reproductive medicine and ultrasonic diagnostics (1330-0091) 25 (2016), 4; 159-163

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
Edwards syndrome ; intensive care ; survival

Sažetak
Introduction. Edwards syndrome is the second most common autosomal chromosome anomaly in humans, with a prevalence of 1: 6, 000–1: 8, 000 in live births. The syndrome includes a recognizable pattern of major and minor anomalies, and prominent psychomotor and cognitive impairments. It carries an increased risk of neonatal and infant mortality. More than 50% of children die in the fi rst week of their life, and less than 10% of them survive until the age of one year. The approach to the treatment of such patients has so far caused many controversies among pediatricians. Whereas some believe that the use of intensive therapy prolongs survival, others believe that it has no long-term effect and due to the severe psychomotor and cognitive impairment its application is not justifi ed. Case report. A female newborn, born on January 11th, 2014, immediately after birth, was transferred to Neonatal Intensive Care Unit of Department of Pediatrics, University Clinical Hospital Mostar, because of hypotonia, pale-grayish color of the skin, defi cient spontaneous motor skills and respiratory insuffi ciency. Clinically, the newborn showed phenotypic characteristics typical of Edwards syndrome. Immediately upon receipt the patient was intubated and connected to mechanical ventilation. The same day diaphragmatic hernia was diagnosed and a corresponding surgery was performed. Cytogenetic fi ndings confirmed complete trisomy 18. Heart echography showed VSD input type (size 8 mm), ASD II (5 mm), PDA (3 mm). Further diagnostic examination showed other congenital malformations with less clinical importance. After stabilization, the patient continued post-intensive treatment with cardiac therapy and physiatric treatment. After being discharged, the patient was repeatedly hospitalized, among other things due to the development of pulmonary hypertension and its complications. The child died in June 2016 of heart failure at the age of two years and six months. Conclusion. The application of intensive treatment had a certain impact on our patient’s survival. It has also been shown that intensive care is followed by cardiovascular events as major mechanisms of death, as opposed to non-invasive approach where high percentage of deaths are associated with central apnea.

Izvorni jezik
Engleski

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