Alteraciones de la pared abdominal: onfalocele / Abdominal wall defects: omphalocele

Introducción: los defectos de la pared son malformaciones congénitas con herniación de algunos órganos de la cavidad abdominal, como es el onfalocele. La prevalencia calculada es 1/10.000 nacimientos en países occidentales, en Colombia se desconoce. El diagnóstico es pre o posnatal requiriendo una serie de exámenes clínicos sistémicos, evaluación diagnóstica secundaria y búsqueda de anomalías asociadas; el tratamiento ha mejorado las tasas de supervivencia entre 70 y 95%. Objetivo: dar a conocer la patología y correlacionar los hallazgos genéticos, ambientales, clínicos y exámenes complementarios para el diagnóstico oportuno, derivando así al paciente a un tratamiento óptimo con disminución de la mortalidad. Materiales y métodos: revisión actualizada de la literatura utilizando buscadores Pubmed, UpToDate y ClinicalKey con énfasis en revisiones sistemáticas, casos clínicos y principales guías clínicas internacionales. Después se envió al jefe del departamento de cirugía pediátrica y a la división de publicaciones para su conocimiento, revisión y aprobación. Resultados: se analizaron 17 artículos publicados en los últimos 5 años, seleccionando los más relevantes y con evidencia clínica actual. Discusión y conclusiones: los estudios recientes han evidenciado nuevos hallazgos que han mejorado la supervivencia y reducido la mortalidad en los últimos 50 años.

Introduction: abdominal wall defects are congenital malformations associated with herniated abdominal organs, such as omphalocele. Its estimated prevalence is 1 per 10.000 live births in western countries. In Colombia the prevalence of omphalocele remains unknown. Omphalocele may be pre or postnatally diagnosed. A series of systemic clinical exams, secondary diagnostic evaluation and assessment for accompanying anomalies, are necessary. Treatment has improved survival rate to 70 and 95%. Objective: to increase awareness of this anomaly and correlate genetic, environmental and clinical findings and complementary exams to enable the early diagnosis and referral of these patients to receive optimal treatment which will reduce mortality. Materials and methods: updated literature review using Pubmed, UpToDate and ClinicalKey search engines, focused on systematic reviews, clinical cases and main international clinical practice guidelines. Found data was submitted to the head of the pediatric surgery department and to the publications division for their information, review and approval Results: 17 articles published in the last 5 years including the most relevant which contained current clinical evidence, were selected. Discussion and conclusions: recent studies have evidenced new findings that have improved survival and reduced mortality in the last 50 years.

Short and Medium-term Outcomes of Omphalocele and Gastroschisis: A Survey from a Tertiary Center / Resultados a curto e médio prazo do onfalocelo e gastrosquisis: uma investigação de um centro terciário

Abstract Objective To characterize and compare the outcomes of omphalocele and gastroschisis from birth to 2 years of follow-up in a recent cohort at a tertiary center. Methods This is a retrospective clinical record review of all patients with gastroschisis and omphalocele admitted to the Neonatal Intensive Care Unit between January 2009 and December 2019. Results There were 38 patients, 13 of whom had omphalocele, and 25 of whom had gastroschisis. Associated anomalies were present in 6 patients (46.2%) with omphalocele and in 10 (41.7%) patients with gastroschisis. Compared with patients with omphalocele, those with gastroschisis had younger mothers (24.7 versus 29.6 years; p=0.033), were born earlier (36 versus 37 weeks, p=0.006), had lower birth weight (2365±430.4 versus 2944.2±571.9 g; p=0.001), and had a longer hospital stay (24 versus 9 days, p=0.001). The neonatal survival rate was 92.3% for omphalocele and 91.7% for gastroschisis. Thirty-four patients were followed-up over a median of 24 months; 13 patients with gastroschisis (59.1%) and 8 patients with omphalocele (66.7%) had at least one adverse event, mainly umbilical hernia (27.3% vs 41.7%), intestinal obstruction (31.8% vs 8.3%), or additional surgical interventions (27.3% vs 33.3%). Conclusion Despite the high proportion of prematurity, low birth weight, and protracted recovery, gastroschisis and omphalocele (without chromosomal abnormalities) may achieve very high survival rates; on the other hand, complications may develop in the first years of life. Thus, a very positive perspective in terms of survival should be transmitted to future parents, but they should also be informed that substantial morbidity may occur in the medium term.

Resumo Objetivo Caracterizar e comparar os desfechos do onfalocelo e gastrosquisis desde o nascimento até aos 2 anos de seguimento numa coorte recente de um centro terciário. Métodos Este é um estudo retrospectivo em que foi feita uma revisão dos registos clínicos de todos os pacientes com gastrosquisis e onfalocelo que foram internados na unidade de cuidados intensivos neonatais, entre janeiro de 2009 e dezembro de 2019. Resultados Identificamos 38 pacientes, 13 dos quais tinham onfalocelo e 25 dos quais tinham gastrosquisis. Anomalias associadas estavam presentes em 6 pacientes (46.2%) com onfalocelo e 10 (41.7%) com gastrosquisis. Comparativamente com os pacientes com onfalocelo, os pacientes com gastrosquisis tinham mães mais jovens (24.7 versus 29.6 anos; p=0.033), nasceram mais precocemente (36 versus 37 semanas, p=0.006), com menor peso ao nascimento (2,365±430.4 versus 2,944.2±571.9 g; p=0.001), e o internamento teve uma duração mais longa (24 versus 9 dias, p=0.001). A taxa de sobrevivência neonatal foi de 92.3% para o onfalocelo e 91.7% para a gastrosquisis. Trinta e quatro pacientes foram seguidos durante umtempo mediano de seguimento de 24meses: 13 com gastrosquisis (59.1%) e 8 com onfalocelo (66.7%) apresentaram pelo menos um evento adverso, sobretudo hérnia umbilical (27.3% vs 41.7%), obstrução intestinal (31.8% vs 8.3%) ou intervenções cirúrgicas adicionais (27.3% vs 33.3%). Conclusão Apesar da alta proporção de prematuridade, de baixo peso e de recuperação lenta, os gastrosquisis, assim como os onfalocelos (sem anomalias cromossómicas), podem ter uma taxa de sobrevivência muito alta; por outro lado, nos primeiros anos de vida, podem surgir complicações não desprezíveis. Assim, aos futuros pais pode ser transmitida uma perspectiva muito positiva em termos de sobrevivência, embora eles também devam ser informados de que pode ocorrermorbidade substancial no médio prazo.

Divertículo de Meckel en asociación a onfalocele y tetralogía de Fallot: reporte de caso y revisión de la literatura / Meckel's diverticulum in association with omphalocele and tetralogy of Fallot: Case report and literature review

El onfalocele o exónfalos se definen como un defecto congénito de la pared abdominal, que consiste en la herniación de las vísceras abdominales a través del anillo umbilical. Esta entidad rara vez se asocia a la comunicación del divertículo de Meckel con el saco del onfalocele. Teniendo en cuenta la escasa prevalencia de dicha entidad, compartimos el reporte de caso de un paciente recién nacido, con diagnóstico de onfalocele menor, en quien se sospechaba ruptura del saco, sin embargo, de manera intraoperatoria se encontró que la aparente ruptura del saco, correspondía a la comunicación con un divertículo de Meckel. El caso además se asoció con hallazgos ecocardiográficos de tetralogía de Fallot

Omphalocele or exomphalos are defined as a congenital defect of the abdominal wall, which consists of the herniation of the abdominal viscera through the umbilical ring. This entity is rarely associated with the communication of Meckel's diverticulum with the omphalocele sac. Considering the low prevalence of this entity, we report the case of a newborn with a diagnosis of minor omphalocele, in whom rupture of the sac was suspected; however, intraoperatively it was found that the apparent rupture of the sac corresponded to a communication with a Meckel's diverticulum. The case was also associated with echocardiographic findings of tetralogy of Fallot

Bloqueo caudal más anestesia general balanceada en un paciente con pentalogía de Cantrell, presentación de un caso clínico / Caudal block plus inhaled general anesthesia in a patient with pentalogy of Cantrell, presentation of a clinical case

The pentalogy of Cantrell is a disorder characterized by congenital abnormalities in the abdominal wall, lower sternum, anterior diaphragm, diaphragmatic pericardium, and cardiac anomalies. It is a rare disease with 250 cases registered around the world. The anesthetic implications will require a specialized management given the ventilatory mechanics and cardiac function which are compromised by the disease in the newborn. We present the case of a female patient with pentalogy of Cantrell without prenatal diagnosis, who had an operative procedure to correct patent ductus arteriosus and abdominal mesh placement under balanced general anesthesia with sevoflurane and fentanyl plus caudal block. This case is reported to provide our experience in the anesthetic management of this type of patients.

La pentalogía de Cantrell es una enfermedad caracterizada por anormalidades congénitas de la pared abdominal supraumbilical, esternón inferior, diafragma, pericardio diafragmático y anomalías cardiacas. Se trata de una enfermedad rara con 250 casos registrados alrededor del mundo. Las implicaciones anestésicas requieren de un manejo especializado debido a la mecánica ventilatoria y función cardíaca que se encuentran comprometidas en el recién nacido. Se presenta el caso de una recién nacida portadora de pentalogía de Cantrell, no diagnosticada prenatalmente, quien fue sometida a corrección de ductus arterioso persistente y colocación de malla abdominal bajo anestesia general balanceada con sevofluorano y fentanilo más bloqueo caudal. Se reporta el presente caso para brindar nuestra experiencia en el manejo anestésico de este tipo de pacientes.

Prevalencia al nacimiento de gastrosquisis y onfalocele en Costa Rica / (Prevalence of gastroschisis and omphalocele in Costa Rica)

Resumen Justificación: En varios países se ha documentado un aumento de los defectos congénitos de pared abdominal, principalmente gastrosquisis. El objetivo es conocer la tendencia por edad materna de gastrosquisis y onfaloce en Costa Rica, durante 1996-2014. Métodos: Utilizando la base de datos del sistema nacional de vigilancia de defectos congénitos, se calcularon tasas de defectos congénitos de pared abdominal por edad materna (menores de 20, 20-34, 35 años o más), y período (1996-2002, 2003-2008 y 2009-2014) con sus respectivos IC 95%. Se realizó una regresión de Poisson, tomando como base el grupo 20-34 años y el período 1996-2002 y se compararon estimados mediante chi cuadrado de Wald. Se evaluó el impacto de la EM mediante fracción atribuible poblacional y se calcularon tasas de fecundidad y distribución proporcional de los nacimientos de acuerdo a esta variable. Resultados: La prevalencia de defectos congénitos de pared abdominal aumentó de 0,76 (IC95% 0,15-1,36) por 10 000 nacimientos en 1996 a 3,48 (IC95% 2,12-4,85) en el 2014. El riesgo relativo para gastrosquisis fue 3,76 (2,95-4,79) en madres menores de 20 años y la fracción atribuible poblacional 36,2%. El riesgo relativo para onfalocele fue 2,09 (1,22-3,59) en madres mayores de 35 años y la fracción atribuible poblacional 8,9%. Se documentó una disminución proporcional de los nacimientos y la tasa de fecundidad en madres menores de 20 y mayores de 35. Conclusión: La prevalencia de defectos congénitos de pared abdominal ha aumentado significativamente a través del tiempo. El aumento de gastrosquisis en las madres menores de 20 años fue mayor, a pesar que los nacimientos han disminuido en este grupo de edad.

Abstract Background: In several countries, an increase in abdominal wall defects, mainly gastroschisis, has been documented. The objective is to know the trend of gastroschisis and omphaloce by maternal age in Costa Rica, between 1996 and 2014. Methods: using the database of the national congenital defects surveillance system, congenital abdominal wall defects rates were calculated by maternal age (under 20, 20-34, 35 years or more), and period (1996-2002, 2003-2008 and 2009-2014) with their respective 95% CI. A Poisson regression was carried out, taking as a base the group 20-34 years and the period 1996-2002, and were compared estimated by Wald's chi-square. The impact of MS was evaluated by population attributable fraction and fertility and proportional distribution of births were calculated according to this variable. Results: abdominal wall defects prevalence increased from 0.76 (95% CI 0.15-1.36) per 10,000 births in 1996 to 3.48 (95% CI 2.12-4.85) in 2014. Relative risk for gastroschisis was 3.76 (2.95- 4.79) in mothers younger than 20 years and the population attributable fraction 36.2%. The relative risk for omphalocele was 2.09 (1.22-3.59) in mothers older than 35 years and population attributable fraction 8.9%. There was a decrease in the proportional distribution of births and the fertility rate in mothers under 20 and over 35. Conclusion: the prevalence of congenital abdominal wall defects has increased significantly over time. The increase in gastroschisis in mothers under 20 years was greater, despite the fact that births have decreased in this age group.

Celio-mesenteric trunk associated with giant omphalocele: surgical consequences / Tronco celíaco-mesentérico asociado con onfalocele gigante: consecuencias quirúrgicas

We report the first case of a newborn presenting with a celio-mesenteric trunk variation associated with a giant omphalocele. The celio-mesenteric trunk was unexpected and unseen during the staged surgical closure. After partial reintegration of the liver, the newborn presented refractory hypovolemia with anuria, leading to redo surgery. This procedure revealed ischemia of the liver and necrosis of the entire gastrointestinal tract except the colon. Despite treatment, including liver externalization, the infant did not survive. The autopsy revealed a celio-mesenteric trunk, a rare anomaly characterized by a common origin of the celiac axis and the superior mesenteric artery from the aorta. This association may explain the dramatic consequences of the staged closure procedure. Awareness of the association of celio-mesenteric trunk and omphalocele would allow the surgeon to take extra care during this delicate surgery.

Presentamos el primer caso de un recién nacido que presenta una variación del tronco celíaco-mesentérico asociada con un onfalocele gigante. El tronco celíaco-mesentérico fue inesperado y no se vio durante las etapas del cierre quirúrgico. Después de la reintegración parcial del hígado, el recién nacido presentó hipovolemia refractaria con anuria, lo que condujo a la repetición de la cirugía. Este procedimiento reveló isquemia del hígado y necrosis de todo el tracto gastrointestinal excepto el colon. A pesar del tratamiento, incluyendo la externalización hepática, el bebé no sobrevivió. La autopsia reveló un tronco celíaco-mesentérico, una rara anomalía caracterizada por un origen común del tronco celíaco y la arteria mesentérica superior, a partir de la aorta. Esta asociación puede explicar las dramáticas consecuencias del procedimiento durante las etapas del cierre. El conocimiento de la asociación de tronco celíaco-mesentérico y onfalocele permitiría al cirujano tomar especial cuidado durante esta delicada cirugía.

Partial hepatectomy in a calf with an omphalocele: case report / Hepatectomia parcial em bezerra portadora de onfalocele: relato de caso

An omphalocele is a defect in the closure of the abdominal wall during the embryonic stage, preventing the return of some abdominal organs to the cavity. In stillborn animals, the involvement of the liver in the omphalocele has been reported. The aim of the present study is to report the success of a partial liver resection in a female bovine at two days of age which presented an omphalocele at birth. Surgical intervention was indicated to reduce and suture the abdominal wall. During the surgical procedure, the presence of hard, reddish tissue was noted inside the sac covered by the amniotic membrane, with characteristics consistent with hepatic parenchyma. Due to the impossibility of reducing the contents added to the suggestion of tissue infection, we elected to perform a partial resection. The histopathological examination confirmed that the resected tissue was of the hepatic parenchyma. Antibiotic and systemic anti-inflammatory therapies were performed post-surgery. Fifteen days after surgery, infection was detected at the surgical site in addition to abdominal wound dehiscence; surgical reintervention was performed. On physical examination, carried out 4 months after the second operation, the heifer presented normal development for the species. In conclusion, omphalocele may contain liver. Ectopic liver is an extremely rare condition. Surgical treatment in the presented case focused on umbilicus with exploration of the abdominal cavity appeared to be sufficient.(AU)

A onfalocele é um defeito no fechamento da parede abdominal durante a fase embrionária, não permitindo o retorno de alguns órgãos abdominais à cavidade. O envolvimento do fígado em onfalocele tem sido relatado, porém em animais natimortos. Com o presente estudo, objetiva-se relatar uma ressecção parcial do fígado realizada com sucesso em uma fêmea bovina com dois dias de idade apresentando onfalocele ao nascimento. Foi indicada a intervenção cirúrgica para a redução e rafia da parede abdominal. Durante o procedimento cirúrgico, notou-se, no interior do saco recoberto pela membrana amniótica, a presença de tecido firme, de coloração avermelhada, com características compatíveis com parênquima hepático. Devido à impossibilidade de redução do conteúdo e sugestão de infecção do tecido encontrado, optou-se pela ressecção parcial dele. O exame histopatológico confirmou tratar-se de parênquima hepático o tecido resseccionado. No pós-cirúrgico, realizaram-se terapias antibiótica e antiinflamatória sistêmicas. Após 15 dias do procedimento cirúrgico, foi detectada infecção do sítio operatório e deiscência da sutura abdominal, sendo realizada reintervenção cirúrgica. No exame físico, realizado no animal após quatro meses da segunda intervenção cirúrgica, constatou-se desenvolvimento normal para a espécie. Conclui-se que o fígado pode ser conteúdo da onfalolocele, sendo uma condição extremamente rara. O tratamento cirúrgico no caso apresentado, com exploração da cicatriz umbilical e da cavidade abdominal, foi suficiente.(AU)

Parche de cordón umbilical versus cierre primario convencional en Gastrosquisis y Onfalocele / Umbilical cord patch versus conventional primary closure in Gastroschisis and Omphalocele

La Gastrosquisis y el Onfalocele son los defectos congénitos de la pared abdominal más frecuentes e importantes que afectan al recién nacido. En nuestro país son muy pocos los centros hospitalarios que cuentan con la infraestructura necesaria para atender a estos neonatos. Muchos de ellos tienen que esperar un tiempo valioso para poder ser operados mientras se ubica la institución en donde van a ser recibidos, aumentando el riesgo de Síndrome Compartimental Abdominal (SCA) y sepsis. Objetivo: Comparar los procedimientos quirúrgicos de Parche de Cordón Umbilical versus el Cierre Primario Convencional de la pared abdominal en recién nacidos. Método: En total se analizaron 20 pacientes los cuales fueron divididos en 2 grupos. El Grupo A, pacientes a los cuales se les realizó cierre de pared mediante la utilización de Parche de Cordón Umbilical (10). El Grupo B, pacientes a los cuales se les realizó Cierre Primario Convencional (10). Resultado: No hubo diferencia estadística significativa en cuanto a tiempo de hospitalización y a las complicaciones. La presión intraabdominal (PIA), inicio de la vía oral y la sobrevida si mostraron diferencia estadística significativa entre los dos procedimientos. Conclusiones: El uso de Parche de Cordón Umbilical pareciera ofrecer ventajas a estos neonatos en los que se ha retardado en cierre de la pared abdominal, ya que la técnica crea una superficie mesotelial en contacto con el intestino, es un material autologo, disponible, fácil de aplicar; y en nuestro estudio demostró mayores ventajas en cuanto al poco aumento de la PIA, inicio más precoz de la vía oral y mayor porcentaje de sobrevida comparándolo con el Cierre Primario Convencional.

Gastroschisis and Omphalocele are the most frequent and important birth defects of the abdominal wall in the newborn period. In our country there are few hospitals with the necessary infrastructure to care for these infants. Many of them have to wait valuable time to be operated while the institution where they will be transfered is located, increasing the risk of Abdominal Compartment Syndrome and sepsis. Objective: To compare the surgical outcome between the use of the Umbilical Cord Patch versus the Conventional Primary Closure of the abdominal wall in newborns. Methods: Twenty patients were equally divided into 2 groups. Group A patients underwent abdominal closure using the Umbilical Cord Patch and Group B patients underwent a Conventional Primary Closure of the abdominal wall (10). Results: No statistically significant difference was seen in hospitalization time and complications. Where as significant statistical difference was seen in intra-abdominal pressure (IAP), onset of oral intake and survival between the two procedures. Conclusion: The Umbilical Cord Patch seems to offer advantages to those infants with delayed closure of the abdominal wall because the technique creates a mesothelial surface in contact with the intestine, it is an autologous tissue, available for use at birth and easly applied. The study showed greater benefits in terms of lower increase of IAP, early onset of oral fedding, and higher survival rate compared with Conventional Primary Closure.

Manejo da onfalocele e da gastrosquise no recém-nascido / Management of omphalocele and gastroschisis in the newborn

A gastrosquise e a onfalocele são malformações congênitas de parede abdominal com incidência relevante no recém-nascido (RN). O presente artigo resume a definição e o manejo adequado da onfalocele e da gastrosquise no recém-nascido.

Gastroschisis and omphalocele are congenital malformations with a relevant incidence in the newborn. This article summarizes the definition and proper management of omphalocele and gastroschisis in the newborn.

Manejo médico del onfalocele gigante con sulfadiazina de plata tópica / Initial nonoperative management of giant omphalocele using topical silver sulfadiazine

El onfalocele es un defecto congénito de la pared abdominal, de presentación infrecuente, que puede asociarse con otro tipo de malformaciones genéticas. El manejo es quirúrgico y consiste en la reducción de las vísceras herniadas para cerrar la fascia y la piel, aunque el onfalocele gigante representa un problema mayor debido al tamaño del defecto, por lo cual el cierre primario con frecuencia debe diferirse. Se presenta un recién nacido con diagnóstico prenatal de onfalocele gigante a quien se realiza manejo médico con sulfadiazina de plata para epitelizar el saco con adecuado éxito, logrando diferir el manejo quirúrgico...

Omphalocele is a rare birth defect of the abdominal wall which may be associated to other genetic abnormalities. It is managed surgically by reducing the herniated organs followed by closure of the fascia and skin. However, giant omphalocele represents a greater problem due to the size of the defect, for which the final closure must be delayed. We present an infant with a prenatal diagnosis of giant omphalocele initially treated with silver sulfadiazine coverage allowing epithelialization of the sac constituting a bridge to delayed surgical closure...

Diagnóstico prenatal de onfalocele mediante ultrasonografía / Prenatal ultrasound diagnosis of omphalocele

El onfalocele es un defecto de la pared abdominal a nivel de la línea media caracterizado por la herniación de contenido abdominal y recubierto por peritoneo y amnios. El objetivo de esta comunicación es presentar un caso de onfalocele con edad gestacional de 23 sem y su diagnóstico prenatal por ultrasonografía. Mediante diagnóstico ecográfico en una pesquisa realizada a una paciente de 40 años de edad en el segundo trimestre (edad gestacional de 23 semanas), mostró a nivel de la pared anterior fetal imagen ecogénica que protruye a través de la pared abdominal y a continuación se localiza el cordón umbilical. Se observó estómago desplazado y pérdida de la anatomía normal de la circunferencia abdominal. Se realizó asesoramiento genético en el Centro Municipal de Genética de Manzanillo. Anatomopatológicamente el feto presentó cuello corto y ancho, orejas de implantación baja, defecto del cierre del conducto onfalomesentérico, saco herniario ocupado por el lóbulo cuadrado del hígado y lecho vesicular, corazón con base ancha que muestra a la disección cava-cava, ausencia de tabique interventricular, estenosis de la válvula pulmonar y dilatación supravalvular de la arteria pulmonar, defecto amplio del tabique intraventicular y aorta cabalgada, lo que habla a favor de una cardiopatía troncoconal del tipo trilogía de Fallop, más el onfalocele. El diagnóstico prenatal por ultrasonografía es un método eficaz y fiable para el diagnóstico prenatal de onfalocele.

Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient pesquiza made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Anatomopatolágicamente the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele.

Pentalogía de cantrell asociado a ectopia cordis: a propósito de un caso / Pentaloy of canttrell associated with ectopia cordis: report of a case

La pentalogía de Cantrell es un conjunto de anormalidades poco frecuentes que engloba a un defecto de la pared abdominal supraumbilical, la parte inferior del esternón, agenesia de la porción anterior del diafragma, ausencia de la cara diafragmática del pericardio y malformación cardiaca. Se presenta la descripción del seguimiento de un caso de una paciente de 32 años, con embarazo aparentemente normal, con movimientos fetales poco disminuidos durante la evolución del embarazo, además de la presión arterial materna ligeramente elevada. Por estudio ecográfico se detecta oligohidramnios severo y malformaciones congénitas que corresponden a Pentalogía de Cantrell. Terminando la gestación se decide prudentemente practicar la cesárea debido al ya diagnosticado síndrome de Cantrell. Una hora previa a la cesárea la paciente refiere no percibir movimientos fetales. Del acto quirúrgico se obtiene un producto único vivo sin llanto con solo movimientos de miembros que vive aproximadamente unos 30 segundos, presentando las características ya mencionadas de la pentalogía de Cantrell asociada a ectopia cordis, además de otras anomalías subsecuentes a estas.

The Pentalogy of Cantrell is a rare set of abnormalities that includes a supraumbilical abdominal wall defect, agenesis of the anterior portion of the diaphragm, absence of the diaphragmatic pericardium and cardiac malformation. We present a description of the monitoring of a case of a patient of 32 years, with apparently normal pregnancy, with fetal movements slightly decreased during the course of pregnancy, and maternal blood pressure slightly elevated. An ultrasound detected severe oligohidramnios and congenital malformations corresponding to Pentalogy of Cantrell. Ending the pregnancy due to the diagnosis is decided wisely to practice cesarean. One hour prior to cesarean the patient reports fetal movements not perceived. By the surgical procedure is obtained a unique product alive, without weeping, little movement members, that only lives about 30 seconds, presenting the aforementioned characteristics of the Pentalogy of Cantrell associated with ectopia cordis, and other anomalies subsequent to these.

Proceso enfermero en lactante mayor con pentalogía de Cantrell con el enfoque de Virginia Henderson / Nursing process in the older infant with pentalogy of Cantrell with the approach of Virginia Henderson", "_i": "

Introducción: La pentalogía de Cantrell es un síndrome caracterizado por disrupción del esternón bajo, defectos cardíacos, diafragmáticos y abdominales, además de onfalocele y ectopia cordis parcial o total. El índice de mortalidad es alto y ocurre en los primeros meses; su principal complicación es la sepsis. Objetivo: Desarrollar un proceso enfermero aplicado a un lactante mayor con pentalogía de Cantrell con el enfoque de Virginia Henderson. Metodología: Estudio de caso clínico en un lactante mayor masculino. Se realizó un estudio descriptivo, prospectivo y longitudinal durante dos meses, basado en el Proceso de Atención de Enfermería, con el enfoque conceptual de Virginia Henderson. Se abordaron las 14 necesidades humanas con un instrumento de valoración validado y se establecieron los diagnósticos de enfermería; las intervenciones están basadas en evidencia científica; se incluyó una evaluación integral y un plan de alta. Resultados: Necesidades más alteradas: oxigenación, seguridad, movilidad y postura. Se encontraron cuatro diagnósticos reales, seis de riesgo y dos de bienestar; se generaron 63 intervenciones con niveles de recomendación científica desde la A hasta IV C. Se evitaron complicaciones al otorgar atención de calidad. Conclusión: El proceso enfermero es fundamental para otorgar cuidados de calidad, aunque no permitió disminuir la dependencia del lactante o la suplencia total de enfermería, no hubo complicaciones y se orientó al familiar. La literatura no reporta cuidados específicos para esta población dada su baja incidencia y alta mortalidad.

Introduction: Cantrell’s pentalogy is a syndrome characterized by defects in the lower part of the sternum, heart, diaphragmatic and abdominal defects. In addition, omphalocele and partial or complete ectopia cordis. The mortality rate is high and takes place in the first months of life; its main complication is septicemia. Objective: To develop a nursing procedure applied to infant higher with Cantrell’s pentalogy with the focus of Virginia Henderson. Methodology: Study of a clinical case of an elder infant. It was a descriptive, prospective and longitudinal study carried out during two months, based on the process of care, nursing, with the conceptual approach of Virginia Henderson. Fourteen human needs with validated assessment tool to establishes nursing diagnosis; the interventions were based on scientific evidence including comprehensive assessment and discharge plan. Results: The most altered aspects were: oxygenation, safety, mobility and posture. We found four real diagnostics, six at risk and two without risk; generated sixty-three interventions with degrees of scientific recommendation from A to IV C. complications were avoided by implementing quality care. Conclusion: The nursing process is fundamental to implementing quality care, even if it was not allowed to reduce the dependence of the infant to a total substitution nursing. There were no complications and the family was oriented. The literature does not report specific care for this population due to its low incidence and mortality.

Defectos de la pared abdominal. Estudio comparativo entre onfalocele y gastrosquisis / Abdominal wall defects. A Comparative investigation between omphalocele and gastroschisis

Introducción: Onfalocele y gastrosquisis son los defectos de la pared abdominal (DPA) más frecuentes, que por su importancia y las diferencias entre ellos merecen ser estudiados en forma especial. Objetivos: Establecer las tasas de prevalencia de onfalocele y gastroaquisis al nacimiento. Verificar variaciones de ellas en distintos períodos. Estudiar la morbimortalidad asociada y su sobrevida. Pacientes y Método: Se revisó la base de datos ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congênitas) para el período 1996-2010. Resultados: Se pesquizarón 33 recién nacidos (RN) con DPA. (11,6 por 10.000 nacimientos). De ellos 19 fueron onfalocele (6,7 por 10.000) y 14 (4,9 por 10.000) gastrosquisis. Los niños con onfalocele tenían significativamente mayor asociación con otras malformaciones, su frecuencia en el sexo masculino fue mayor y mostró mayor letalidad que la gastrosquisis. Todos los niños con gastrosquisis nacieron vivos, con predominio del sexo femenino, sus madres eran significativamente más jóvenes. Conclusión: Onfalocele y gastros-quisis presentaron una prevalencia al nacimiento mayor que lo publicado, probablemente por ser el HCUCH un Centro de Referencia. Ambas anomalías mostraron un aumento significativo en sus tasas de prevalencia al nacimiento al compararlas con las obtenidas anteriormente por nosotros en el mismo hospital. Se demostró diferencias significativas entre estas dos entidades: Onfalocele tiene mayor mortinatalidad, mortalidad y letalidad, mayor frecuencia de malformaciones asociadas y mayor promedio de edad materna.

Introduction: Omphalocele and Gastroschisis are the two most common congenital abdominal wall (AWD) defects. Objectives: To determine birth prevalence of Omphalocele and Gastroaquisis; to verify variations in different periods and to study the associated morbidity, mortality and survival. Patients and Method: The database of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) was searched between the years 1996 and 2010. Results: 33 newborns (NB) with AWD were investigated (11.6 per 10,000 births). 19 of the cases corresponded to omphalocele (6.7 per 10,000 births) and 14 to gastroschisis (4.9 per 10,000 births). Children with omphalocele had significantly greater association with other malformations and the frequency in males was higher and showed higher mortality rates than gastroschisis. All children with gas-troschisis were born alive; they were predominantly female infants whose mothers were significantly younger. Conclusion: Birth omphalocele and gastroschisis prevalence were higher than published information, perhaps due to the fact that the HCUCH (Clinical Hospital of Universidad de Chile) is a reference center. Both anomalies showed a significant increase in their birth prevalence rates when compared with those previously obtained by us in the same hospital. Significant differences between these two entities were described. Omphalocele presented higher stillbirth, mortality and fatality rates; higher frequency of associated malformations and higher average maternal age.

Diagnóstico antenatal del Síndrome de Beckwith-Wiedemann / Antenatal Diagnosis of Beckwith-Wiedemann Syndrome

El síndrome de Beckwith-Wiedemann (SBW) es un extraño síndrome congénito caracterizado por macroglosia, defecto de la pared abdominal, macrosomía y visceromegalias. Éste se ha asociado a mayor riesgo de desarrollar tumores embrionarios e hipoglicemia. El SBW es causado por una alteración en la regulación de la impronta genómica. Su diagnóstico definitivo se realiza usualmente en la etapa postnatal, sin embargo, actualmente es posible detectar este síndrome en la etapa prenatal mediante estudios bioquímicos, genéticos y ultrasonográficos que revelan los hallazgos característicos de este síndrome. Se describe un caso en el cual se hizo el diagnóstico del SBW durante la gestación, al evidenciar en el segundo trimestre onfalocele y en el tercer trimestre macroglosia y macrosomía. Esto permitió un adecuado asesoramiento prenatal a los padres, la planificación del nacimiento, los cuidados neonatales necesarios y la resolución oportuna de las complicaciones. A los 6 meses de edad la niña presentó un neurofibrosarcoma en la escápula derecha que también fue resuelto oportunamente. El estudio ecográfico perinatal practicado durante el primer y segundo trimestre del embarazo detecta las alteraciones que hacen posible el diagnóstico antenatal del SBW, lo cual permite brindar la adecuada atención maternofetal y neonatal, para obtener un mejor resultado perinatal con mínima afectación del desarrollo normal.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by macroglossia, abdominal wall defect, macrosomia and organomegaly, which has been associated with increased risk of embryonal tumors and hypoglycemia. BWS is caused by an alteration in the regulation of genomic imprinting. The definitive diagnosis is usually made in the postnatal period; however, it can now be diagnosed in the prenatal stage through biochemical, genetic and ultrasound tests that detect the characteristic features of this syndrome. A case in which a SBW diagnosis was made during pregnancy is being described, after observing omphalocele in the second quarter of pregnancy, and macroglossia and macrosomia in the third quarter. This allowed adequate prenatal counseling to parents, planning of birth and of the required neonatal care, as well as timely resolution of complications. At 6 months of age the child presented a neurofibrosarcoma in the right scapula which was also promptly resolved. Perinatal ultrasound performed during the first and second trimester can detect changes that make possible prenatal diagnosis of BWS and, consequently, an adequate maternal-fetal and neonatal care for a better perinatal outcome with minimal involvement of normal development.

Pentalogía de Cantrell en el primer gemelo de un embarazo gemelar monocigótico: presentación de un caso y revisión de la literatura / Cantrell's pentalogy in the first twin froma monozygotic twin pregnancy: a case presentation and literature review

Introducción: la Pentalogía de Cantrell (PC) se compone de cinco anomalías: defecto superior de pared abdominal, defecto esternal inferior, defecto diafragmático anterior, defecto pericárdico diafragmático y anormalidades del corazón. Cerca de 250 casos han sido reportados, solo 6 involucran gemelos, y de estos 4 describen discordancia de esta anomalía. Objetivo: realizar la presentación de un caso de PC asociado a embarazo gemelar y la revisión de la literatura de esta asociación con énfasis en el diagnóstico prenatal y la etiología. Materiales y métodos: se presenta un caso de Pentalogía de Cantrell que afecta solo al primer gemelo de un embarazo gemelar monocigótico, se realizó una búsqueda de la información en las bases de datos SciELO y PubMed con la terminología MeSH "Pentalogy of Cantrell", "twin" y en español "Pentalogía de Cantrell" y "gemelar". Conclusión: la PC puede ser sospechada ecográficamente por ectopia cordis y defecto toracoabdominal. La presentación de un caso en un embarazo gemelar es una asociación poco frecuente.

Introduction: Cantrell's pentalogy (CP) consists of five anomalies: upper abdominal wall defects, lower sternal defects, anterior diaphragmatic defects, diaphragmatic pericardial defects and abnormalities of the heart. Around 250 cases have been reported; only 6 have involved twins and 4 of these have described discordance of such anomaly. Objective: presenting a case of twin pregnancy-associated CP and literature review regarding such association, emphasizing prenatal diagnosis and etiology. Materials and methods: a case of Cantrell's pentalogy is presented which only affected the first twin from a monozygotic twin pregnancy. Information was sought in SciELO and PubMed databases, using the following MeSH terminology "Pentalogy of Cantrell", "Twin" and "Pentalogía de Cantrell" and "gemelar" in Spanish. Conclusion: CP may be ecographically suspected by ectopia cordis and thoracoabdominal defects. The presentation of a case in twin pregnancy is an extremely rare association.

Pentalogía de cantrell (ectopia cordis): reporte de un caso / Pentalogy of cantrell (ectopia cordis): report of one case

La pentalogía de Cantrell involucra defectos de la línea media abdominal supraumbilical, parte inferior del esternón, diafragma anterior, pericardio diafragmático y malformaciones congénitas intracardiacas (1, 2). Su pronóstico está supeditado al diagnóstico temprano, la severidad de la malformación cardiaca y las anomalías asociadas (3). Se reporta el caso de una gestante de 28 semanas con diagnóstico fetal de pentalogía de Cantrell: ectopia cordis verdadera toraco-abdominal (con anomalía intracardiaca) y fisura esternal, y se resalta el diagnóstico prenatal que permitió definir su pronóstico y planear el manejo.

Pentalogy of Cantrell involves defects of the midlline supraumbilical abdomen, lower sternum, anterior diaphragm, diaphragmatic pericardium and intracardiac congenital defects. Prognosis depends on early diagnosis, severity of cardiac malformation and associated anomalies. We report the case of a 28 weeks pregnant woman with fetal diagnosis of pentalogy of Cantrell: true thoraco-abdominal ectopia cordis (with intracardiac anomaly) and sternal cleft, and highlight prenatal diagnosis that allowed to define prognosis and plan management.

Tratamiento de los defectos de la pared abdominal (gastrosquisis y onfalocele) en el Hospital Universitario San Vicente de Paúl, Medellín, 1998-2006 / Management of abdominal wall defects (gastroschisis and omphalocele) at Hospital Universitario San Vicente de Paúl, in Medellín, Colombia, 1998-2006

Introducción: la gastrosquisis y el onfalocele son malformaciones de la pared abdominal en neonatos que, a pesar de sus grandes diferencias, tienen en común el hecho de ser enfermedades graves caracterizadas por la herniación de las vísceras intrabdominales a través de un defecto de la pared abdominal. Los niños con estas enfermedades se presentan como emergencias quirúrgicas que plantean un reto difícil para el cirujano tratante. Tienen una tasa de mortalidad que oscila entre 20- 40%, aun con el tratamiento apropiado y se asocian a un amplio rango de malformaciones, principalmente en los niños con onfalocele. Objetivo: el objetivo de la presente revisión retrospectiva es describir el tratamiento de los pacientes con gastrosquisis y onfalocele, y los resultados con él obtenidos, entre 1998 y 2006, en la Sección de Cirugía Pediátrica del Hospital Universitario San Vicente de Paúl (HUSVP), de Medellín. Pacientes y métodos: se evaluaron todos los pacientes que ingresaron al Servicio de Cirugía Pediátrica del HUSVP con diagnóstico de gastrosquisis u onfalocele, entre el 1 de enero de 1998 y el 31 de diciembre de 2006. Se definió el tipo de tratamiento llevado a cabo y, de acuerdo con este, se revisaron los resultados: las complicaciones posquirúrgicas, tales como infección del sitio operatorio, evisceración, sepsis, íleo e hipertensión intrabdominal; el tiempo de inicio de la vía oral y de la nutrición parenteral total (NPT); la permanencia en la unidad de cuidados intensivos (UCI) y la duración de la estancia hospitalaria Resultados: se identificaron 55 pacientes, 32 con gastrosquisis y 23 con onfalocele; en todos se hizo tratamiento quirúrgico. En 31 pacientes (56,4%) se hizo cierre primario y en 24 (43,6%), cierre por etapas; en esta última modalidad el procedimiento más utilizado fue el silo (12 niños; 50%). En 42 pacientes (76,4%) se presentaron complicaciones la más frecuente de las cuales fue la sepsis. La frecuencia de complicaciones asociadas...

Introduction: Gastroschisis and omphalocele are neonatal malformations of the abdominal wall. Despite thei r great di f ferences , both are severe di seases characterized by herniation of viscera through the defect in the abdominal wall. Children with these defects present as surgical emergencies that pose a difficult challenge to the attending surgeon. Even with appropriate management, the mortality rate is between 20-40%.Omphalocele and, to a lesser degree gastroschisis, are associated with a wide range of malformations. Objective: The aim of this retrospective review was to describe the management of children with gastroschisis or omphalocele, and the results obtained with it, at the Pediatric Surgery Section, Hospital Universitario San Vicente de Paúl, in Medellin, Colombia.Patients and methods: We evaluated the charts of all patients admitted to the Pediatric Surgery Section, between January 1, 1998 and December 31, 2006, with a diagnosis of gastroschisis or omphalocele. The type of treatment was defined as either primary closure or closure by stages; accordingly, we reviewed the results of the operation, the surgical complications (surgical site infection, evisceration, sepsis, ileus and intraabdominal hypertension), the time of onset of oral and total parenteral nutrition (TPN), and the duration of hospital and UCI stay Results: 55 patients were identified, 32 with gastroschisis and 23 with omphalocele, all of whom were surgically treated. In 31 patients (56.4%) primary closure was carried out, while in 24 (43.6%) the closure was done by stages; in the latter modality silo was most frequently used (12 cases). Complications, mostly sepsis, occurred in 42 patients (76.4%). The frequency of complications associated...

Abordagem global de uma intervenção fisioterapêutica na onfalocele gigante / Global approach to a physiotherapy intervention in giant omphalocele

Descrever os efeitos da utilização de recursos instrumentais e cinesioterapêuticos em parâmetros cardiorrespiratórios, espirométricos e na qualidade de vida de uma adolescente com diagnóstico de Onfalocele Gigante (OG), doença pouco abordada na literatura em relação à intervenção da fisioterapia respiratória e motora. Paciente de 16 anos, com diagnóstico de OG, realizou acompanhamento fisioterapêutico, cuja conduta envolveu o uso do Threshold®, Respiron®, fortalecimento e alongamento da musculatura global e de grupos musculares específicos, para a melhora do padrão postural. Os dados de função pulmonar referente à saturação de oxigênio, freqüências respiratória e cardíaca, pressão inspiratória e expiratória máximas, teste de caminhada de seis minutos e parâmetros espirométricos foram as variáveis quantitativas de efeito consideradas antes e após o período de cinco meses de tratamento. Houve melhora de todas as variáveis quantitativas de função pulmonar em relação aos valores basais, bem como melhora da qualidade de vida e da sensação de dispnéia referidas pela adolescente. O uso de recursos fisioterapêuticos instrumentais para fortalecer a musculatura inspiratória, melhorar a ventilação, diminuir a dispnéia e aumentar a tolerância ao exercício, além de uma abordagem postural para desenvolver equilíbrio da biomecânica músculo-esquelética, podem ser uma alternativa a ser utilizada como conduta no tratamento de pacientes com OG.

To describe the effects of using specific physiotherapeutic resources and kinesiotherapy on cardiorespiratory and spirometric parameters, and on the quality of life of an adolescent diagnosed with Giant Omphalocele (GO), a disease little-known in the literature as regards respiratory and motor intervention. In a 16-year-old patient diagnosed with GO, the physiotherapy was monitored involving the use of Threshold® and Respiron®, strengthening and stretching the musculature overall as well as in specific groups to improve the postural alignment. Data for pulmonary function regarding blood oxygenation, breath and heart rate, maximum inhalation and exhalation pressures, six-minute walk tests, and spirometric parameters were the effective quantitative variables considered before and after the five-month treatment period. There was a general improvement in all the quantitative variables for pulmonary function compared to baseline values, as well as an improvement in the quality of life and of the feelings of dyspnea mentioned by the adolescent. The use of specific physiotherapeutic resources to fortify the natural inhalational musculature, to improve ventilation, to reduce dyspnea, and to increase the tolerance to exercise, aside from a postural approach to developing bio-mechanical musculoskeletal equilibrium, can be an alternative to be used as a path of treatment for patients with GO.

Reporte de un caso de pentalogía de Cantrell / Pentalogy of Cantrell: A case report

Introducción. La pentalogía de Cantrell es un padecimiento congénito raro; reportados 90 casos en la literatura y descrito por Cantrell-Heller-Ravitch, se caracteriza por: hernia diafragmática anterior, onfalocele, pericardio diafragmático, anomalías congénitas intracardiacas y tercio inferior del esternón. Caso clínico. Recién nacida (RN) femenina de término, eutrófica, producto de la cuarta gestación, madre de 36 años, originaria de Guadalajara y residente de Pto. Vallarta. Antecedentes de: tabaquismo y alcoholismo, asmática tratada con salbutamol durante la gestación, infección de vías urinarias y cervicovaginitis tratada, preeclampsia 4 meses previos al parto, sin manejo, diagnosticada por ecosonograma obstétrico a las 35.2 semanas de gestación con presencia de onfalocele y ectopia cordis; interrumpiendo la gestación vía abdominal, obteniéndose RN con los defectos mencionados, además de cardiopatía intracardiaca (atresia pulmonar, transposición de vasos, comunicación interventricular e interauricular). Falleció a los 5 días de vida. Conclusión. Los casos de supervivencia reportados en la literatura son excepcionales (variantes no graves), siendo las cardiopatías determinantes del pronóstico.

Introduction. The pentalogy of Cantrell is a infrequent congenital syndrome. There are 90 cases reported in the literature, described by Cantrell-Heller-Ravitch and characterized by hernia of the anterior diaphragm, omphalocele, diaphragmatic pericardium, congenital heart defect and in the lower sternum. Case report. Female newborn delivered at term, product of the 4th pregnancy from a 36 year-old mother with history of smoking and alcoholism, asthma treated with salbutamol during pregnancy, urogenital tract infection treated, preeclampsia in the 4th month of gestation non-treated. Diagnosis by ultrasound at 35.2 weeks of pregnancy of omphalocele and ectopia cordis; abdominal delivery of the newborn with the defects described above, associated with intracardiac lesions: pulmonary atresia, vascular transposition, ventricular septal defect and atrial septal defect. The infant died on the 5th day. Conclusion. The survival rate in cases reported in literature is rare and depends on the complexity of the cardiac defect.