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Oeis Complex (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects): a Confusing Syndrome

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Oeis Complex (Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects): a Confusing Syndrome case reports 2021; 7(1) https://doi.org/10.15446/cr.v7n1.85912 OEIS COMPLEX (OMPHALOCELE-EXSTROPHY-IMPERFORATE ANUS-SPINAL DEFECTS): A CONFUSING SYNDROME. CASE REPORT Keywords: Meningomyelocele; Anus, Imperforate; Neural Tube Defects; Bladder Exstrophy. Palabras clave: Meningomielocele; Ano imperforado; Defectos del tubo neural; Extrofia de la vejiga. Eugenia Espinosa-García Universidad Militar Nueva Granada - Faculty of Medicine and Health Sciences - Department of Pediatric Neurology - Bogotá, D.C. - Colombia. Universidad del Rosario - School of Medicine and Health Sciences - Department of Pediatric Neurology - Bogotá, D.C. - Colombia. Hospital Militar Central - Department of Pediatric Neurology - Bogotá, D.C. - Colombia. Natalia Martínez-Córdoba Universidad Militar Nueva Granada - Faculty of Medicine and Health Sciences - Department of Pediatric Neurology - Bogotá, D.C. - Colombia. Corresponding author Natalia Martínez-Córdoba. Departamento de Neurología Pediátrica, Facultad de Medicina y Ciencias de la Salud, Universidad Militar Nueva Granada. Bogotá D.C. Colombia. Email: [email protected]. Received: 27/03/2020 Accepted: 20/05/2020 case reports Vol. 7 No. 1: 41-9 42 RESUMEN ABSTRACT Introducción. El complejo OEIS es un conjunto Introduction: The OEIS complex is a group de defectos polimalformativos con baja incidencia of polymorphic defects with low incidence and y prevalencia mundial que suele estar asociado a prevalence worldwide. It is associated with epi- causas epigenéticas y genéticas que ocasionan genetic and genetic causes that occur in early alteración al final de la blastogénesis, dando como blastogenesis, resulting in 4 classic malformations resultado la asociación de cuatro malformaciones consisting of omphalocele, bladder/cloaca ex- clásicas: onfalocele, extrofia vesical, ano imperfo- strophy, imperforate anus, and spinal cord injuries. rado y lesiones de la médula espinal. En ocasiones Spina bifida, symphysis pubis diastasis and limb también se presenta espina bífida, diástasis de la abnormalities may also be observed. sínfisis púbica y anormalidades en las extremidades. Case presentation: 7-month-old female Presentación del caso. Paciente femenina de patient (at the time of writing this report). The 7 meses de edad (al momento de la elaboración mother was from a rural region of Colombia, del presente reporte), procedente de un área and this was her third pregnancy, which was rural colombiana, producto de una tercera ges- at high risk of obstetric complications. The in- tación con alto riesgo obstétrico y diagnosticada fant was prenatally diagnosed with a caudal prenatalmente con un defecto en el plegamiento folding defect in the abdominal wall and a li- caudal de la pared abdominal y un lipomeningo- pomeningocele. During birth, bladder exstrophy, cele. Durante el nacimiento se evidenció extrofia imperforate anus and spinal dysraphism were vesical, ano imperforado y disrafismo espinal, lo observed, leading to a diagnosis of OEIS com- que permitió plantear el diagnóstico de complejo plex. Relevant interdisciplinary management OEIS e iniciar manejo interdisciplinario pertinente. was initiated. Conclusiones. El complejo OEIS es una poli- Conclusions: The OEIS complex is a fetal malformación fetal con signos y anomalías ca- polymorphic malformation with characteristic racterísticas, en donde los conocimientos sobre signs and defects. Knowledge on its etiopatho- la etiopatogenia, el diagnóstico pre y postnatal, el genesis, pre- and postnatal diagnosis, genetic asesoramiento genético y las propuestas terapéu- counseling and therapeutic approaches are es- ticas son primordiales para favorecer el manejo sential to favor the early treatment of different precoz de las diferentes comorbilidades, aliviar la comorbidities, alleviate acute symptoms, reduce sintomatología aguda, reducir múltiples comorbi- multiple comorbidities and improve the patient’s lidades y mejorar la calidad de vida del paciente. quality of life. oeis complex (omphalocele-exstrophy-imperforate anus-spinal defects): a confusing syndrome INTRODUCTION CASE PRESENTATION 43 The OEIS complex is a rare polymorpic mal- This is the case of a 7-month-old female patient formation. Its worldwide prevalence has been (at the time of writing this report). The mother estimated between 0.04 and 0.05% in live new- came from a rural region of Colombia and this borns or 1 case per 200 000-400 000 preg- was her third pregnancy. Her parents were not nancies, with a male-to-female ratio of 1:2 (1,2). related by blood and were low-income farm- According to Mallikarjunappa & Ghosh (3), the ers. The pregnancy was at high obstetric risk first case of this syndrome was reported in 1709 due to advanced maternal age and prolonged by Littre. However, as stated by Keppler-No- intergenesic period (>11 years). The mother reuil (4), it was not until 1978 that Carey et al. did not report exposure to toxics or psychoac- described a congenital syndrome with multiple tive substances during pregnancy and had ad- abdominal wall malformations, including om- equate prenatal check-ups. Her TORCHS profile phalocele, cloacal exstrophy, imperforate anus, was negative. A prenatal ultrasound scan (at and spinal defects, which was called the “OEIS 20 weeks) allowed diagnosing omphalocele complex” (3,4). Other conditions associated with associated with abdominal wall malformations. this disorder have also been discovered over Fetal karyotyping revealed 46XX. time, including spina bifida, congenital urological The patient was delivered through a ce- anomalies, renal anomalies, pubic symphysis sarean section at 34 weeks gestation due to diastasis and limb abnormalities (5). preterm labor caused by pre-eclampsia with The spinal anomaly associated with the OEIS severity criteria: APGAR 5/10 per minute, 7/10 complex is occult spinal dysrafism (6), which is at 5 minutes, and 8/10 at 10 minutes. At birth, defined as a group of congenital malformations her weight was 2 215g; head circumference of the spine and spinal cord characterized by was 32cm; height was 43.5cm. Induration in failure of fusion (total or partial) of neural struc- the lumbosacral region, bladder exstrophy due tures, bone, and midline mesenchymal fields (7). to a defect in the midline of the abdominal OEIS is considered a complex as it comprises wall, bilateral talipes equinovarus and cloacal morphological defects that share a common or malformation were observed. Therefore, a adjacent embryological region. Its etiology is not possible OEIS complex was considered and yet clear, but it is believed to involve genetic and other differential diagnoses such as gastro- epigenetic factors (8). The degree of malfor- schisis, limb-body wall complex and pentalogy mation depends on the prenatal period in which of Cantrell were ruled out. the primary defect occurs (9). Its prognosis is On the third day of life, the baby was taken unfavorable, so early family management and to skin vesicostomy, omphalocele closure, tu- counseling is always necessary. bularization of the colonic pouch and intestinal The present article describes the case of bypass, with favorable postoperative evolution. an infant diagnosed with OEIS complex in order During her hospital stay, a cranial ultrasound to emphasize the scarcity of information on was performed, finding no alterations. A urinary this entity, especially in Latin America, and to tract ultrasound also showed grade 4 hydro- inform about the treatment options available nephrosis, necessitating a right nephrostomy. to date. Two days later, the infant was assessed by the case reports Vol. 7 No. 1: 41-9 44 pediatric neurology and neurosurgery services, erative complications despite the uncertainty of which established that she presented with her prognosis. Furthermore, she was awaiting hypotonia and a lumbosacral mass of approx- spinal anchoring and interdisciplinary follow-up imately 4x4cm, paraparesis, and hyporeflexia by the pediatric neurology, neurosurgery, urol- of lower limbs and talipes equinovarus. As a ogy, pediatric surgery, interventional radiology, result, MRI of the neuraxis was performed, and physical and occupational therapy services. revealing lumbosacral lipomeningocele, type Clinical genetics requested genomic hybrid- II diastematomyelia (Figure 1), and sacral ization + microarray to identify any pathogenic agenesis. Occult spinal dysrafism was consid- variant, deletion or copy number variation that eredthat did not require immediate intervention could explain the etiology, but no report has yet was considered. However, this condition had been received. to be followed up on an outpatient basis and treated through rehabilitation with physical and DISCUSSION occupational therapy. The first case of a patient with an OEIS com- plex was reported in 1709. However, Carey et al. characterized this entity for the first time in 1978 (4,9,10) after identifying 175 children with one or more of the following malformations after reviewing the medical records from a California hospital: omphalocele, cloacal exstrophy, im- perforated anus, and spinal defects. According to Austin et al. (11), Meizner was the first to perform an ultrasound diagnosis of the OEIS complex in 1985. OEIS is defined as a complex since it com- Figure 1. Magnetic resonance imaging. Axial plane. T2 prises a group of defects that share an embry- sequence with evidence of type II diastematomyelia, single ological region and stage. It occurs at the end dural sac, and spinal cord with no bony septum/spur. of blastogenesis (fourth
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