Manassero-Morales G, Franco-Bustamante K and Matos-Rojas I
Introduction: The OEIS complex includes: Omphalocele, Exstrophy of the cloaca, Imperforate anus, and Spinal defects. The OEIS complex affects 1 in 200,000 to 400,000 pregnancies and its etiology is uncertain. The purpose is to present our experience in this unusual coexistence of malformations never reported in Latin America.
Clinical Case: A male infant, three months of age, diagnosed at birth with omphalocele, cloacal exstrophy, double hemi bladder, rectum and anal atresia, bilateral clubfeet and lumbosacral bifid spine. Abdominal MRI confirmed clinical findings and also showed horseshoe kidney, bilateral enlarged renal pelvis. Lumbosacral spine MRI revealed lipomeningocele, hypoplastic sacrum and pubic agenesia. In the first two days of life, this patient underwent several surgical procedures. Currently (3 months old) is waiting for further surgical reconstruction.
Conclusion: The case described meets the clinical criteria for OIES complex; in the absence of a family history that could suggest a pattern of Mendelian inheritance and normal cytogenetic study. We conclude that this is an isolated case of probable multifactorial inheritance. Patients require immediate postnatal multidisciplinary care, surgical management is recommended in the neonatal period, using a multi-stage approach to reconstructive surgery and follow-up throughout life.
