A Rare Case of Genital Malformation with Omphalocele, Exstrophy of Bladder, Imperforate Anus and Spinal Defect Complex-Autopsy Findings

Abstract

Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4 th week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings. Prenatal diagnosis also helps to prevent foetal death with appropriate management in the less severe cases. In severe cases, termination of pregnancy is considered. A primigravida with 28 weeks of gestation had delivered a live baby with multiple congenital anomalies; baby died after 10 minutes. These anomalies were grouped under OEIS complex.

Omphalocele, Exstrophy of Cloaca, Imperforate Anus, and Spinal Defects Complex: A Case Report

“…Besides these cardinal malformations, the OEIS complex has been reported to have other associated anomalies of the central nervous system, cardiovascular system, vertebrae, upper urinary tract, malrotation, defects in the vertebral column, absent appendix, lower limb abnormalities like talipes equinovalgus, single umbilical artery. 1 In our case, the OEIS complex was associated with cardiac anomalies which consisted of tubular ductus arteriosus, atrial septal defect secundum, both left to right shunt with moderate tricuspid regurgitation with severe pulmonary artery hypertension and mildly dilated right atrium, right ventricle. Renal anomalies included non-visualization of the right kidney and ureter.…”

“…Failure of cloacal septation leads to the persistence of a cloaca, a rudimentary mid-gut, and an imperforate anus. 1,5 Antenatal ultrasound helps in diagnosing and preventing fetal death with appropriate management. Major criteria for the prenatal ultrasound diagnosis of cloacal exstrophy include non-visualization of the fetal bladder, infra-umbilical abdominal wall defect, omphalocele, myelomeningocele, and minor criteria include lower extremities malformations, renal anomalies, ascites, widened pubic arches, narrow thorax, hydrocephalus, single umbilical artery.…”

“…Besides these cardinal malformations, the OEIS complex has been reported to have other associated anomalies of the central nervous system, cardiovascular system, vertebrae, upper urinary tract, malrotation, defects in the vertebral column, absent appendix, lower limb abnormalities like talipes equino-valgus, single umbilical artery. 1 …”

“…The term OEIS (Omphalocele, Exstrophy of Cloaca, Imperforate Anus, Spinal Defects) was coined by Carey (1978) for a rare constellation of malformations. 1 Clinical findings are numerous. The main findings are failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the Mullerian duct derivatives in females, and a wide range of urinary tract anomalies.…”

“… 2 It results from improper closure of the anterior abdominal wall and defective development of the cloaca and urogenital septum due to a defect in blastogenesis during the 4 th week of gestation. 1 , 3 …”