The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins

Abstract

Rationale: Pentalogy of Cantrell (POC) is an extremely rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births. Its complete form includes a midline epigastric abdominal wall defect, defects affecting the lower sternum, anterior diaphragm, diaphragmatic pericardium, and various intracardiac defects. Patient concerns: We report a case of complete POC affecting only the first-born of a set of premature dizygotic twins. Diagnosis: A giant omphalocele with an eviscerated liver and bowel on prenatal, obstetric ultrasonography at 24 gestational weeks was observed. At birth, physical examination confirmed a massive (10 × 8 cm) epigastric omphalocele in which a significant part of the liver was seen. A postnatal echocardiogram revealed the presence of an ostium secundum atrial septal defect, perimembranous ventricular septal defect, and moderate pulmonary stenosis. X-ray showed an abnormal intrathoracic positioned stomach, which was confirmed with a plain x-ray of the upper intestinal tract with hydrosoluble contrast. Computed tomography (CT) scan revealed the sternum's absence and a close connection between the pericardial sac and the stomach wall. Interventions: The patient underwent surgical intervention at 18 days of age. Outcomes: Despite adequate and appropriate postoperative treatment, the baby rapidly deteriorated and died 72 hours after surgery. Lessons: POC is a complex, high-mortality syndrome whose management requires a multidisciplinary approach and meticulous planning. Despite all efforts, POC carries a poor prognosis, particularly in patients affected by its complete form.

Epidemiologic and clinical characteristics of selected congenital anomalies at the largest Bosnian pediatric surgery tertiary center

“…One neonate died due to a lethal multiple CA syndrome (Pentalogy of Cantrell) on the twenty-seventh day of life. [18] A neonate who died from GS died from postoperative sepsis. 55.6% of neonates with DA had associated anomalies; 3 had trisomy 21 (Down syndrome), while 2 had congenital heart disease.…”

How to deal with rare pediatric surgical diseases in the small developing country with limited resources: Insights from Bosnia and Herzegovina

“…It also requires a high level of preoperative, operative, and postoperative management achieved in close multidisciplinary cooperation between physicians of various specialties to improve the survival and health of newborns. In developing countries with limited resources like Bosnia and Herzegovina, the rarity and complexity of various pediatric pathologies are additionally faced with limited training options, which represent another obstacle with potential management implications on PRD [10]. Additional problems are related to a perplexing political and fragmented healthcare system in the country that hampers centralized centers to treat the most complex PRD.…”