Infrequent association of OEIS complex with a diaphragmatic defect

Abstract

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare entity that presents abdominal wall defects, entails high morbidity and mortality, and requires multidisciplinary management. 

Objective: To describe a case with an unusual association between OEIS complex and diaphragmatic hernia and to discuss its pathogenesis and possible association with other midline malformations. 

Clinical Case: A preterm female newborn of 33 weeks of gestational age, with prenatal diagnosis of giant omphalocele that, at birth, presented intact amnion coverture containing the entire liver and some bowel loops, open bladder exstrophy and exposed urethral orifices; uterus didelphys, no palpable gonads, and concurrent imaging findings of pelvic soft tissue extrusion, left diaphragmatic hernia (Bochdalek), multiple bone defects, myelomeningocele, and myelocystocele. With these findings, OEIS complex with simultaneous presentation of Cantrell pentalogy or 1p36 deletion syndrome was suggested; in a genetic study chromosomopathies were ruled out but, a more specific study could not be performed. Colostomy, cloacal closure, and midline bladder plate closure were performed, with adequate postoperative evolution. Given respiratory stability, surgical correction of the diaphragmatic hernia was delayed. After a long hospitalization, she was discharged and died due to intercurrent acute respiratory pathology. 

Conclusion: OEIS complex is a low prevalence entity and, within its clinical associations, diaphragmatic hernia is rare, which could correspond to an unusual form of the complex due to a simultaneous presentation of Cantrell pentalogy and 1p36 deletion syndrome. Despite being a sporadic malformation, it is important to know its characteristics and variations in order to perform an comprehensive multidisciplinary approach.