An Omphalocele Exstrophy Imperforate Anus Spinal Abnormality (OEIS) Variant

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Delayed recognition of bladder exstrophy and persistent cloaca: An Omphalocele exstrophy imperforate anus spinal abnormality (OEIS) Variant Itunu O. Arojo MD, Lynn L. Woo MD. HPI • Newborn term infant with abnormal prenatal ultrasound on 22- week anatomy scan. – Widened pubic diastasis – Dilated rectosigmoid colon – Mild polyhydramnios – Distended bladder in pelvis protruding into the omphalocele • Empties during exam • Mother aged 31 G3P3, otherwise healthy • Prenatal MRI obtained to confirm findings 2 Physical Exam • Omphalocele • Asymmetric labia/clitoral tissue • Fistulous connection to the bladder • Imperforate anus with a single mucosal-lined opening in perineum 6 Diagnostic evaluation • Cystoscopy/EUA – cloacal malformation – Appearance of an intact urethra/bladder neck complex – vaginal duplication – fistulous tract to the rectum 7 Diagnostic evaluation • Cystogram – smooth-walled bladder without evidence of reflux • Spinal ultrasound was normal. 8 • DOL 4 – Omphalocele rupture revealed bladder exstrophy 9 Hospital course • She underwent a diverting colostomy on DOL 4. • Discharged home with seran wrap coverage and prophylatic antibiotics • Cloacal repair and closure of bladder exstrophy is planned at age 6 months of age. 10 Discussion • Cloacal exstrophy is a rare and complex congenital anomaly • Incidence of 1/200,000-400,000 live birth • Occurs along a spectrum • Associated omphalocele often contains bowel or liver • Prenatal diagnosis of exstrophy is difficult to make. Often a diagnosis of omphalocele/gastroschisis made and the exstrophy overlooked . 11 Conclusion • This case highlights the complexity associated with diagnosis of exstrophy- epispadias complex. Despite advances in prenatal imaging, diagnosis of this condition relies upon physical examination with the knowledge that each presentation can be different; not fitting in one box. 12 References • Woo L., Thomas J., and Brock J.: Cloacal exstrophy: a comprehensive review of an uncommon problem. J Pediatr Urol 2010; 6: pp. 102-111 • Phillips M.: Spectrum of cloacal exstrophy. Semin Pediatr Surg 2011; 20: pp. 113-118 • Carey J.C., Greenbaum B., and Hall B.D.: The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects Orig Artic Ser 1978; 14: pp. 253-263 13.

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