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.

Pentalogía de Cantrell diagnosticada en el primer trimestre: reporte de caso / Cantrell's pentalogy diagnosed in the first trimester: case report

La pentalogía de Cantrell es una rara anomalía congénita caracterizada por la asociación de ectopia cordis con defectos en la pared toracoabdominal, el diafragma, el esternón y pericárdicos, y anomalías cardíacas intrínsecas. En diagnóstico prenatal, la ecografía se utiliza sistemáticamente entre las 11 y 14 semanas de gestación, evaluando marcadores de alteraciones cromosómicas como la sonolucencia nucal, el hueso nasal y la morfología patológica del ductus venoso, entre otros. Además, permite examinar la anatomía fetal y diagnosticar anomalías mayores, como acrania-anencefalia, holoprosencefalia, defectos de la pared abdominal y toracoabdominal, entre los que se incluye la pentalogía de Cantrell. Se reporta un feto con los hallazgos clásicos de pentalogía de Cantrell, que fue expulsado a las 13 semanas de gestación bajo protocolo de interrupción voluntaria del embarazo. Madre de 23 años, G1P0, sin exposiciones teratogénicas, en cuyo feto se encontró ectopia cordis, asas intestinales e hígado por fuera de la cavidad abdominal en las 10 y 12 semanas de gestación. El objetivo de este estudio es aportar a la literatura un reporte de pentalogía de Cantrell, siendo el primero reportado en Colombia en el primer trimestre de gestación, mostrando la importancia de la ecografía sistemática durante este periodo, en el marco de la posibilidad de interrupción voluntaria del embarazo.

Cantrells pentalogy is a rare congenital anomaly characterized by the association of ectopia cordis with intrinsic cardiac anomalies and various anatomical defects found in the thoracoabdominal wall, diaphragm, sternum and pericardium. Ultrasound is used routinely between 11 and 14 weeks of gestation during prenatal diagnosis. It evaluates markers of chromosomal alterations such as nuchal sonolucency, the nasal bone, and the pathological morphology of the ductus venosus, among others. Furthermore, it allows the diagnosis of altered fetal anatomy and major abnormalities such as acrania-anencephaly, holoprosencephaly, abdominal and thoraco-abdominal wall defects including Cantrells pentalogy. In this case report, we present a fetus with the classic findings of Cantrells pentalogy, which was expelled during the 13th week of gestation under the protocol of voluntary interruption of pregnancy. The mother, a 23-year-old woman, G1P0, without teratogenic exposures, in whom during the routine ultrasound of the 10th and 12th weeks of gestation ectopia cordis, intestinal loops and liver outside the abdominal cavity were found on the fetus. The main objective of this study is to contribute to the literature a case report of pentalogy of Cantrell, diagnosed through prenatal ultrasound, being the first reported in Colombia during first trimester of gestation, showing the importance of routine ultrasound, in the context of access to a voluntary termination of pregnancy.

Pentalogy of cantrell. a stillbirth case report

ABSTRACT Introduction: Pentalogy of Cantrell is a rare congenital disorder characterized by midline birth anomalies. Its embryological origins are related to anomalies of the abdominal wall that prevent the closure of the thorax. Its etiology is not yet clear, but it has been associated with a failure of migration of the lateral plate mesoderm to the midline. Case description: A stillbirth at 25.2 weeks of gestation diagnosed with pentalogy of Cantrell. The mother was a 14-year-old teenager with no relevant history of disease. An obstetric ultrasound was performed at 19 weeks of gestation and revealed findings suggestive of pentalogy of Cantrell. The mother was informed of the potential risks and future complications for the fetus, yet she chose to continue with the pregnancy. At 25.2 weeks of gestation, the mother went to the emergency department due to pain in the hypogastrium accompanied by moderate vaginal bleeding and absence of fetal activity. Once fetal death was confirmed by ultrasound, labor was induced, resulting in stillbirth with anencephaly, thoracic hypoplasia, gastroschisis, and eventration of the liver. Conclusions: Adequate antenatal care, including strict ultrasound follow-up, is essential to detect future complications in the fetus; to provide advice on possible malformations incompatible with life, such as pentalogy of Cantrell; and to determine the best therapeutic approach.

RESUMEN Introducción. La pentalogía de Cantrell es una anomalía congénita rara que se caracteriza por malformaciones en la línea media del cuerpo, y cuyos orígenes embriológicos están relacionados con anormalidades de la pared abdominal que impiden el cierre del tórax. Su etiología aun no es clara, pero se ha asociado con una falla de la migración de los pliegues del mesodermo lateral a la línea media. Presentación del caso. Mortinato de 25.2 semanas de gestación diagnosticado con pentalogía de Cantrell. La madre era una menor de 14 años sin antecedentes patológicos. A las 19 semanas de gestación se realizó ecografía obstétrica que mostró imágenes sugestivas de pentalogía de Cantrell, y se le explicó a la gestante los riesgos y complicaciones futuras que presentaría el feto, pero esta decidió continuar con el embarazo. A las 25.2 semanas de gestación, la joven acudió al servicio de urgencias por dolor en hipogastrio acompañado de sangrado vaginal moderado y ausencia de actividad fetal. Una vez confirmada la muerte fetal mediante ecografía, se indujo el trabajo de parto, obteniéndose mortinato con anencefalia, hipoplasia de caja torácica, gastrosquisis y eventración del hígado. Conclusiones. La realización de adecuados controles prenatales, en los cuales se realice un seguimiento ecográfico estricto, es fundamental para detectar futuras complicaciones en el feto; brindar asesoría sobre posibles malformaciones que sean incompatibles con la vida, como la pentalogía de Cantrell, y establecer las mejores alternativas de manejo.

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.

A propósito de un caso: Resolución quirúrgica en dos tiempos de Pentalogía de Cantrell / Case Report: Two-stage surgical resolution of Cantrell's Pentalogy

INTRODUCCIÓN: La pentalogía de Cantrell abarca la presencia de cinco defectos congénitos que representan un gran desafío para los cirujanos. Las anomalías del corazón, pericardio, diafragma, esternón y pared abdominal anterior son los hallazgos principales. Su incidencia es baja, sin embargo, es fundamental identificarla oportunamente para adoptar una terapia adecuada para todos los defectos descritos, puesto que se reporta una mortalidad elevada. CASO CLÍNICO: Se trató de un recién nacido a término, de sexo masculino, con antecedentes de defecto de la pared abdominal compatible con onfalocele detectado mediante ecografía prenatal. Tras cesárea programada, se evidenció defecto en la pared abdominal a través del cual emergían el lóbulo hepático izquierdo, intestinos y corazón; el esternón además presentaba una fisura baja. En ecocardiograma se evidenció foramen oval permeable, insuficiencia tricuspídea leve e hipertensión pulmonar severa. EVOLUCIÓN: Se decidió su manejo quirúrgico inmediato. Se colocó silo, con cierre progresivo de la línea media en 7 días. En segundo tiempo quirúrgico, se corrigió el defecto diafragmático y pericárdico con prótesis de pericardio bovino. Pese a la evolución adecuada de la cirugía, a los 28 días, el paciente presentó cianosis súbita, sin responder a maniobras de reanimación y falleció. CONCLUSIÓN: La Pentalogía de Cantrell es una enfermedad rara, con características clínicas, anatómicas y embriológicas peculiares, representa un desafío único para los cirujanos. Su diagnóstico temprano, así como el seguimiento durante el embarazo, la planificación de una cesárea en un centro de alto nivel y la aproximación quirúrgica inmediata con un equipo multidisciplinario, son componentes clave en el manejo integral de pacientes con Pentalogía de Cantrell.

BACKGROUND: Cantrell's pentalogy includes the presence of five birth defects that represent a great challenge for surgeons. Abnormalities of the heart, pericardium, diaphragm, sternumand anterior abdominal wall are the main findings. Its incidence is low, however, it is essential to identify Cantrell´s pentalogy timely to adopt an adequate therapy for all specific defects, since it has high mortality. CASE REPORT: The patient was a full- term male newborn, with a history of abdominal wall defect compatible with an omphalocele detected by prenatal ultrasound. After the caesarean section, the abdominal wall defect was notable, the left liver lobe, intestines and heart emerged through it, the sternum also had a low fissure. The echocardiogram revealed a permeable oval foramen, mild tricuspid regurgitation, and severe pulmonary hypertension. EVOLUTION: Immediate surgical management was decided. Silo was placed, with progressive closure of the midline in 7 days. During the second surgical procedure, the diaphragmatic and pericardial defect was corrected with a bovine pericardial prosthesis. Despite the adequate evolution after surgery, at day 28 he presented with sudden cyanosis and didn't respond to cardiopulmonary resuscitation and died. CONCLUSIONS: Cantrell's Pentalogy is a rare disease, with peculiar clinical, anatomical and embryological characteristics, it represents a unique challenge for surgeons. Early diagnosis, as well as follow-up during pregnancy, planning a cesarean section in a high-level center and immediate surgical approach with a multidisciplinary team, are the key components in the management of patients with Cantrell's Pentalogy.

Diagnóstico prenatal de Pentalogía de Cantrell: reporte de caso / Prenatal diagnosis of Pentalogy of Cantrell: A case report / Prenatal diagnosis of Pentalogy of Cantrell: A case report

RESUMEN La pentalogía de Cantrell es la conjunción de cinco defectos congénitos (defectos del corazón, pericardio, diafragma, esternón y la pared abdominal anterior), que representa un desafío único para los gineco-obstetras. Aunque la incidencia es pequeña, es fundamental identificarlo en el primer trimestre. En este reporte se comunica un caso de pentalogía de Cantrell diagnosticado en su primer control prenatal en el segundo trimestre de gestación.

ABSTRACT The Pentalogy of Cantrell is the conjunction of five congenital defects (defects of the heart, pericardium, diaphragm, sternum and anterior abdominal wall) which represents a unique challenge for the obstetrician gynecologist. Although its incidence is small, it is essential to identify it early in the first trimester. A case of Pentalogy of Cantrell is reported, diagnosed in the first prenatal control in the second trimester of pregnancy.

Anesthesia for surgical repair of the pentalogy of Cantrell: case report / Anestesia em cirurgia para correção de pentalogia de Cantrell: relato de caso

Abstract Pentalogy of Cantrell is a congenital anomaly associated with defects in the abdominal wall, sternum, diaphragm, and diaphragmatic pericardium formation, in addition to the development of cardiac abnormalities. It is a rare disease with an estimated incidence of one case for every 65,000 births, being more common in males (60% of cases). It has a reserved prognosis with mortality around 63%, and a maximum of 9 months survival after surgery. There are few case reports addressing the pentalogy of Cantrell, which is justified by the rarity of this pathology. In this report our objective was to describe a surgical case of a female patient and make some anesthetic considerations about this rare congenital malformation.

Resumo A pentalogia de Cantrell é uma anomalia congênita associada a defeitos na formação da parede abdominal, do esterno, diafragma e pericárdio diafragmático, além do desenvolvimento de anomalias cardíacas. É uma doença rara, com incidência estimada em um caso para cada 65.000 nascimentos, mais comum no sexo masculino (60% dos casos). Apresenta prognóstico reservado com mortalidade em torno de 63% e sobrevida após procedimento cirúrgico de no máximo nove meses. São escassos os relatos de casos referentes à pentalogia de Cantrell, o que se justifica pela raridade dessa patologia. Com este relato, os autores objetivam descrever um caso cirúrgico, em paciente do sexo feminino, e tecer algumas considerações anestésicas sobre essa malformação congênita rara.

Ectopia cordis associated with pentalogy of cantrell-a case report / Ectopia cordis associada à pentalogia de cantrell-relato de caso

Abstract Pentalogy of Cantrell (PC) is a rare congenital anomaly characterized by changes in the mesodermal median structures and congenital heart disease, often with a poor prognosis. In 1958, Cantrell et al2 defined the full spectrum of the syndrome with the following anomalies: defects of the anterior diaphragm, of the lower part of the sternum, of the supraumbilical region and the abdominal wall, of the diaphragmatic pericardium, and various intracardiac congenital abnormalities. The present report describes a case of ectopia cordis associated with PC and the importance of the participation of a multidisciplinary team in the treatment of this condition.

Resumo A pentalogia de Cantrell (PC) é uma rara anomalia congênita caracterizada por alterações nas estruturas medianas mesodérmicas e doenças cardíacas congênitas, cursando muitas vezes com um mau prognóstico. Em 1958, Cantrell et al2 definiram o espectro completo da síndrome com as seguintes anomalias: defeitos do diafragma anterior, da parte inferior do esterno, da região supraumbilical e parede abdominal, do pericárdio diafragmático, e várias anormalidades congênitas intracardíacas. O presente relato relaciona-se a um caso de ectopia cordis associado à PC e à importância da participação de uma equipe multidisciplinar no acompanhamento da doença.

[Anesthesia for surgical repair of the pentalogy of Cantrell: case report]. / Anestesia em cirurgia para correção de pentalogia de Cantrell: relato de caso.

Pentalogy of Cantrell is a congenital anomaly associated with defects in the abdominal wall, sternum, diaphragm, and diaphragmatic pericardium formation, in addition to the development of cardiac abnormalities. It is a rare disease with an estimated incidence of one case for every 65,000 births, being more common in males (60% of cases). It has a reserved prognosis with mortality around 63%, and a maximum of 9 months survival after surgery. There are few case reports addressing the pentalogy of Cantrell, which is justified by the rarity of this pathology. In this report our objective was to describe a surgical case of a female patient and make some anesthetic considerations about this rare congenital malformation.

Pentalogía de Cantrell: un caso en embarazo gemelar / Cantrell`s Pentalogy: A case in twin pregnancy

La pentalogía de Cantrell es una enfermedad muy poco frecuente sobre todo en embarazos múltiples. Está caracterizado por presentar malformaciones integradas por defectos de cinco anomalías: tercio inferior del esternón, defecto epigástrico de la línea media abdominal, alteración del segmento anterior del diafragma, defectos pericárdicos y malformaciones cardiacas. Se reporta un caso en una paciente primigesta de 22 años de edad y embarazo gemelar que acude para su control ecográfico a las 27,3 semanas de gestación, en donde se encuentran los siguientes hallazgos ecográficos: anencefalia, anormalidad facial y corazón fuera de la cavidad torácica. Se da el nacimiento de los gemelos por vía cesárea a las 35 semanas: el primero de aspecto normal y el segundo con Pentalogía de Cantrell y otras malformaciones asociadas.

Pentalogy of Cantrell is a low frequency disease within multiple pregnancy, characterized with malformations with five anomalies defects: lower sternal defect, midline supraumbilical abdominal wall defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. We report a case in a patient in her first pregnancy of 22 year old, twin pregnancy. She is 27, 3 weeks pregnant, comes for ultrasound control of the gestation, where the following ultrasound results are found: anencephaly, facial abnormalities and the heart out of the chest cavity. The birth of the twins is given via caesarian section at 35 weeks; the first of normal appearance and the second with Pentalogy of Cantrell and other associated malformations

Pentalogía de Cantrell. Reporte de caso / Pentalogy of Cantrell. Case report

La pentalogía de Cantrell es una anomalía congènita que se caracteriza por la asociación variable de un defecto de la pared toracoabdominal a defectos de la porción inferior del esternón, del diafragma, del pericardio y cardiacos; entre estos el más representativo es la ectopia cordis. Cantrell reportó en 1958 5 casos con esta anomalía. La prevalencia de pentalogía de Cantrell ha sido estimada entre 1/65 000 a 1 en 200 000 nacidos vivos. La etiología de esta anomalía no es clara y se considera heterogènea. El mecanismo embriopatológico propuesto sugiere que existe una falla en la migración ventral de cèlulas mesodèrmicas. Se reporta un caso de pentalogía de Cantrell con todas las características clásicas, con diagnóstico prenatal. Además se propone una hipótesis sobre la embriopatogènesis y un manejo integral de la madre y el feto.

The pentalogy of Cantrell is a congenital anomaly characterized by variable association of a thoracoabdominal wall defect to defect of the lower sternum, diaphragm, pericardium and heart, the most representative is ectopia cordis. Cantrell in 1958 reported 5 cases with this anomaly. The prevalence of pentalogy of Cantrell has been estimated between 1 /65,000 to 1 in 200,000 live births. The etiology of this anomaly is not clear and is considered heterogeneous. The mechanism proposed embriopatológico suggests aflaw in the ventral migration of mesodermal cells. We report a case of pentalogy of Cantrell with all the classic features with prenatal diagnosis. It also suggests a hypothesis about the embriopatogénesis and integrated management of the mother and fetus.

Pentalogía de Cantrell y bandas amnióticas: reporte de un caso y revisión de la literatura / Pentalogy of Cantrell and amniotic bands: A case report and review of the literature

Objetivo: reportar un caso de pentalogía de Cantrell asociado a acranea, hendidura facial medial y reducción de las extremidades derechas originado por bandas amnióticas. Realizar una revisión de la literatura sobre la patogénesis de las bandas amnióticas y los hallazgos en el caso reportado.Materiales y métodos: se presenta el caso de un recién nacido muerto, con malformaciones congénitas antes mencionadas, hijo de madre primigestante de 15 años con 34 semanas de gestación, que consultó al Hospital Universitario del Valle (HUV), hospital de nivel III y IV de referencia en obstetricia, de la red pública del suroccidente colombiano. Como fuente de información se utilizó la historia clínica, fotografías del recién nacido y los Rayos X.Se realizó una búsqueda de literatura con las palabras clave "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" en las bases de datos Medline vía PubMed en inglés y español, sin límite de tiempo; se buscaron reportes de caso, revisiones de tema y series de casos.Resultados: se encontraron treinta artículos, se analizaron todas las referencias y se halló que catorce corresponden a reportes de caso, ocho a revisiones de tema y ocho a series de casos.Conclusiones: se reporta un caso de pentalogía de Cantrell, posiblemente por bandas amnióticas originadas en el desarrollo embrionario. El caso se clasificó como complejo cuerpo-extremidad (LBWC), secundario a bandas amnióticas.

Objective: To report a Pentalogy of Cantrell case associated with acrania, medial facial cleft and reduction of the right limbs as a result of amniotic bands; and to conduct a review of the literature on the pathogenesis of amniotic bands and the findings of the reported case.Materials and methods: Case report of a demised neonate with the above mentionated congenital malformations born to a 15 year-old primigravida in her 34 weeks of gestation who came to Hospital Universitario del Valle (HUV), a level III and IV referral hospital for obstetrics belonging to the public network in south-western Colombia. The clinical record, photographs of the neonate and X-Ray images were used as the sources of information. A search in the literature was conducted using the terms "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" through PubMed in the Medline databases in English and Spanish, with no time limitation; the search included case reports, topic reviews and case series.Results: Overall, 30 articles were found and all the references were analysed; 14 were case reports, 8 were topic reviews and 8 were case series.Conclusions: Report of a Pentalogy of Cantrell case, probably resulting from amniotic bands arising during embryo development. It was classified as a limb body wall complex (LBWC), secondary to amniotic bands.

Pentalogia de Cantrell con un gemelo sano: reporte de caso

Se comunica un caso de pentalogía de Cantrell en embarazo gemelar, en el cual solo uno de los fetos presentó el síndrome; el segundo feto no portaba malformación congénita. Este hecho podría reforzar teorías epigenéticas sobre su origen. Se hace alcances sobre el diagnóstico prenatal, la etiología y posibilidad de manejo en estos casos.

A case of pentalogy of Cantrell pathology in only one fetus of a twin pregnancy is reported; no congenital malformation was found in the second fetus. This fact would endorse epigenetic theories on its origin. Some thoughts on prenatal diagnosis, etiology and management of these cases are discussed.

Diagnóstico prenatal de pentalogía de Cantrell / Prenatal diagnosis of pentalogy of Cantrell

La pentalogía de Cantrell fue descrita por vez primera en 1958, y consiste en 5 defectos. Tiene una incidencia estimada de 5,5 por 1 millón de nacidos vivos, y su patogénesis no está esclarecida. Se presenta un caso en el que se diagnosticó prenatalmente este defecto de baja frecuencia(AU)

Pentalogy of Cantrell was firstly described in 1958 and consists of 5 defects. It has an estimated incidence rate of 5.5 per one million livebirths and the pathogenesis is not clarified. This is the case of a prenatal diagnosis of this low frequency defect(AU)

Diagnóstico prenatal de pentalogía de Cantrell / Prenatal diagnosis of pentalogy of Cantrell

La pentalogía de Cantrell fue descrita por vez primera en 1958, y consiste en 5 defectos. Tiene una incidencia estimada de 5,5 por 1 millón de nacidos vivos, y su patogénesis no está esclarecida. Se presenta un caso en el que se diagnosticó prenatalmente este defecto de baja frecuencia

Pentalogy of Cantrell was firstly described in 1958 and consists of 5 defects. It has an estimated incidence rate of 5.5 per one million livebirths and the pathogenesis is not clarified. This is the case of a prenatal diagnosis of this low frequency defect

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.

Pentalogía de Cantrell: presentación de un caso clínico / Pentalogy of Cantrell: clinical case

La pentalogía de Cantrell es una enfermedad poco frecuente que resulta de alteraciones embriológicas del mesodermo, caracterizada por defecto en la porción baja esternal, defecto de la pared abdominal supraumbilical, defecto diafragmático anterior, defecto del pericardio diafragmático y anomalía cardiaca. Caso clínico: Se presenta el caso de un neonato de sexo masculino con diagnóstico prenatal de defecto de la pared abdominal, en quien posteriormente se realizó el diagnóstico de Pentalogía de Cantrell. Al presentar este caso se destaca la posibilidad diagnóstica en la vida fetal, y el pobre pronóstico de estos pacientes cuando su presentación clínica se asocia a hipoplasia pulmonar severa.

Pentalogy of Cantrell is a rare disease that results from alterations in embryo development. It is characterized by defects of the lower sternum, midline supraumbilical abdominal wall defect, deficiency of the anterior diaphragm, defects in the diaphragmatic pericardium and cardiac anomaly. Case Report: The case of a male neonate with a prenatal diagnosis of abdominal wall defect is presented, who was subsequently diagnosed with Pentalogy of Cantrell. This study emphasizes the prenatal diagnosis possibilities and the poor prognosis for these patients when their clinical presentation is associated with severe lung hypoplasia.

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.

Rare birth defects associated with Morgagni hernia and segmental aplasia of uterine horn in bitch: Case report / Rare birth defects associated with Morgagni hernia and segmental aplasia of uterine horn in bitch: Case report / Defeitos congênitos raros associados à hérnia de Morgagni e à aplasia segmentar de corno uterino em cadela: Relato de caso

Birth defects, deformities or abnormalities are terms used to describe developmental defects present at birth, most of which are rare in bitches. We report the case of a six-month old mongrel bitch corpse, which, when subjected to an anatomotopographic study revealed the presence of rare birth defects as Morgagni hernia and segmental aplasia of the right uterine horn with its attachment to the transverses muscle of abdominis. In association with HM, we observed the presence of dextrocardia and a defect of the abdominal wall supraumbilical characteristic of incompletely Pentalogy of Cantrell’s, syndrome so far described only in humans. In association with segmental aplasia of the uterine horn, we observed the ipsilateral presence of the renal hypoplasia and ureteral agenesis. The diagnosis of those abnormalities was based on anatomical findings and confirmed histologically. Despite the rarity and complexity of the abnormalities first described in bitches, the literature suggested that the prognosis may be favorable to the life of the animal. However, early diagnosis is essential to avoid the potential complications of those diseases

Birth defects, deformities or abnormalities are terms used to describe developmental defects present at birth, most of which are rare in bitches. We report the case of a six-month old mongrel bitch corpse, which, when subjected to an anatomotopographic study revealed the presence of rare birth defects as Morgagni hernia and segmental aplasia of the right uterine horn with its attachment to the transverses muscle of abdominis. In association with HM, we observed the presence of dextrocardia and a defect of the abdominal wall supraumbilical characteristic of incompletely Pentalogy of Cantrell’s, syndrome so far described only in humans. In association with segmental aplasia of the uterine horn, we observed the ipsilateral presence of the renal hypoplasia and ureteral agenesis. The diagnosis of those abnormalities was based on anatomical findings and confirmed histologically. Despite the rarity and complexity of the abnormalities first described in bitches, the literature suggested that the prognosis may be favorable to the life of the animal. However, early diagnosis is essential to avoid the potential complications of those diseases

Defeitos congênitos, deformidades ou anormalidades são termos usados para descrever defeitos no desenvolvimento presentes ao nascimento, a maioria dos quais é de ocorrência rara em cadelas. Relatase o caso de um cadáver de cadela, sem raça definida, de seis meses de idade, que ao ser submetido ao estudo anatomotopográfico revelou a presença de defeitos congênitos raros como hérnia de Morgagni (HM) e aplasia segmentar do corno uterino direito com fixação do mesmo no músculo transverso do abdome. Em associação à HM, foi observada a presença de dextrocardia e de um defeito da parede abdominal supraumbilical achados característicos da forma incompleta da pentalogia de Cantrell, síndrome até o momento só descrita em humanos. Em associação à aplasia segmentar do corno uterino foi observada a presença ipsilateral de hipoplasia renal e de agenesia de ureter. O diagnóstico destas anormalidades foi baseado nos achados macroscópicos e confirmado histologicamente. A despeito da raridade e complexidade das anormalidades descritas pela primeira vez em cadelas, a literatura sugeriu que o prognóstico pode ser favorável à vida do animal. Contudo, o diagnóstico precoce é essencial para se evitar as possíveis complicações destas patologias.

Rare birth defects associated with Morgagni hernia and segmental aplasia of uterine horn in bitch: Case report / Rare birth defects associated with Morgagni hernia and segmental aplasia of uterine horn in bitch: Case report / Defeitos congênitos raros associados à hérnia de Morgagni e à aplasia segmentar de corno uterino em cadela: Relato de caso

Birth defects, deformities or abnormalities are terms used to describe developmental defects present at birth, most of which are rare in bitches. We report the case of a six-month old mongrel bitch corpse, which, when subjected to an anatomotopographic study revealed the presence of rare birth defects as Morgagni hernia and segmental aplasia of the right uterine horn with its attachment to the transverses muscle of abdominis. In association with HM, we observed the presence of dextrocardia and a defect of the abdominal wall supraumbilical characteristic of incompletely Pentalogy of Cantrells, syndrome so far described only in humans. In association with segmental aplasia of the uterine horn, we observed the ipsilateral presence of the renal hypoplasia and ureteral agenesis. The diagnosis of those abnormalities was based on anatomical findings and confirmed histologically. Despite the rarity and complexity of the abnormalities first described in bitches, the literature suggested that the prognosis may be favorable to the life of the animal. However, early diagnosis is essential to avoid the potential complications of those diseases

Birth defects, deformities or abnormalities are terms used to describe developmental defects present at birth, most of which are rare in bitches. We report the case of a six-month old mongrel bitch corpse, which, when subjected to an anatomotopographic study revealed the presence of rare birth defects as Morgagni hernia and segmental aplasia of the right uterine horn with its attachment to the transverses muscle of abdominis. In association with HM, we observed the presence of dextrocardia and a defect of the abdominal wall supraumbilical characteristic of incompletely Pentalogy of Cantrells, syndrome so far described only in humans. In association with segmental aplasia of the uterine horn, we observed the ipsilateral presence of the renal hypoplasia and ureteral agenesis. The diagnosis of those abnormalities was based on anatomical findings and confirmed histologically. Despite the rarity and complexity of the abnormalities first described in bitches, the literature suggested that the prognosis may be favorable to the life of the animal. However, early diagnosis is essential to avoid the potential complications of those diseases

Defeitos congênitos, deformidades ou anormalidades são termos usados para descrever defeitos no desenvolvimento presentes ao nascimento, a maioria dos quais é de ocorrência rara em cadelas. Relatase o caso de um cadáver de cadela, sem raça definida, de seis meses de idade, que ao ser submetido ao estudo anatomotopográfico revelou a presença de defeitos congênitos raros como hérnia de Morgagni (HM) e aplasia segmentar do corno uterino direito com fixação do mesmo no músculo transverso do abdome. Em associação à HM, foi observada a presença de dextrocardia e de um defeito da parede abdominal supraumbilical achados característicos da forma incompleta da pentalogia de Cantrell, síndrome até o momento só descrita em humanos. Em associação à aplasia segmentar do corno uterino foi observada a presença ipsilateral de hipoplasia renal e de agenesia de ureter. O diagnóstico destas anormalidades foi baseado nos achados macroscópicos e confirmado histologicamente. A despeito da raridade e complexidade das anormalidades descritas pela primeira vez em cadelas, a literatura sugeriu que o prognóstico pode ser favorável à vida do animal. Contudo, o diagnóstico precoce é essencial para se evitar as possíveis complicações destas patologias.