Combined Complex Gastroschisis, Bladder Exstrophy and Pelvic Organs Evisceration: A Rare Entity

Abstract

BACKGROUND: Abdominal wall defects are one the most common congenital anomalies, with a prevalence of 1 in every 2,000 live births, common entities are gastroschisis, omphalocele, and midline defects such as bladder exstrophy-epispadias complex. Affected individuals are characterized by bowel evisceration, bladder exstrophy, orthopedic, gastrointestinal or gynecological/urological anomalies. These conditions have been widely studied in the literature, however, there are only three cases reports of gastroschisis and bladder exstrophy affecting the same patient. We report the case of a female patient product of a non-consanguineous marriage, born at 36 weeks of gestation. Her mother, a 20-year-old, Gravida 1 patient, presented to the outpatient OB/GYN service of the Hospital Universitario del Valle, in Cali, Colombia, with the report of an ultrasound performed at the 17th week of gestation: abdominal wall defect suggesting gastroschisis. At the time of this visit the patient was 21 weeks pregnant, history and physical exam were unremarkable. A detailed anatomy ultrasound was set to be performed at week 22 of pregnancy and a follow-up visit was scheduled within a month. The patient returned for follow-up at 31 weeks of pregnancy, the detailed anatomy ultrasound carried was carried out at week 23, it showed a fetus with intrauterine growth restriction and gastroschisis without bowel dilation. The day after, the patient was cited in order to perform an in-house detailed anatomy ultrasound with doppler, this study confirmed the intrauterine growth restriction (below the 3rd percentile, normal doppler) and gastroschisis, in-house ultrasound follow-up was advised to the patient. A latter ultrasound performed during the 34th week showed: complex gastroschisis with an anechoic image near the umbilical cord base, that could correspond to bladder exstrophy or an allantoic cyst. A physician meeting was carried out between the OBGYNs and pediatric surgeons, were they decided to cite the patient for a C-section at 36 weeks of pregnancy, and, immediately after the procedure, prepare the newborn for surgery. After the C-section, initial inspection of the newborn revealed gastroschisis with herniation of the small and large bowel, stomach, bladder and female reproductive organs, APGAR scores were 8 at one minute and 9 at 5 minutes, the patient then underwent closure surgery without complications, later on, after 25 days in the neonatal intensive care unit, she made a full recovery and was discharged from the hospital. The underlying etiology of these congenital anomalies is still unknow, however, multiple pathogenesis mechanisms such as embryological, genetic, and environmental factors have been proposed. The aim of this case report is to provide to the scientific literature the fourth case of gastroschisis, bladder exstrophy and reproductive organs evisceration affecting the same patient (third case in the Americas and first in Colombia), contributing to literature review update since the last case in 2004, highlighting the value of early prenatal diagnosis with adequate ultrasound follow-up and multidisciplinary team involvement, in order to make joint decisions with patients regarding delivery method, pregnancy follow-up or voluntary interruption of pregnancy, allowing adequate physician-patient communication and also genetic/reproductive counseling for future pregnancies.