Congenital diaphragmatic hernia: relationship between defect size and outcome. Experience in a reference centre.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) remains a therapeutic challenge. The surgical classification recommended by the Congenital Diaphragmatic Hernia study group (CDHSG), based on the size of the defect, is used for staging in reference centres. Larger defects are associated with poorer outcomes. Our aim was to describe and compare the morbidity at hospital discharge of newborns who underwent surgical correction of CDH at the Juan P. Garrahan, according to the surgical staging of the defect proposed by the CDHSG. MATERIAL AND METHODS: The study included patients with CDH admitted to the Juan P. Garrahan Hospital between 2012 and 2020, and we analysed the distribution, morbidity and mortality associated with the size of the defect. We carried out a descriptive analysis, calculating measures of central tendency and dispersion, and bivariate and multivariate analyses. RESULTS: A total of 230 patients with CDH were admitted and 158 underwent surgery. We found that defect sizes C and D sizes were associated with an increased risk of chronic pulmonary disease (CPD) (OR, 5.3; 95% CI, 2.2-13.4; P<.0000), need of extracorporeal membrane oxygenation (OR 3.9; 95% CI, 1.3-12.8; P<.005) and chylothorax (OR, 2.1; 95% CI, 0.8-6.4; P<.10]. The multivariate analysis revealed that a large defect size (C-D) was independently and significantly associated with CPD (OR 4.19; 95% CI, 1.76-9.95). CONCLUSION: Staging the defect according to de CDHSG classification during surgery allows the application of uniform management criteria and the prediction of patient outcomes and complications during the hospital stay.

[Safety and efficacy of a therapeutic exercise program in young adults with repaired congenital diaphragmatic hernia]. / Seguridad y eficacia de un programa de ejercicio terapéutico en jóvenes intervenidos de hernia diafragmática congénita.

INTRODUCTION AND OBJECTIVE: Patients with congenital diaphragmatic hernia (CDH) can have up to 40 times more frequency of muskuloskeletal deformities and decreased perception of physical activity tan their pairs. The objective of this study is to evaluate the safety and efficacy of an individualized exercise program in late adolescents and young adults with repaired CDH, as well as a description of their basal status. MATERIAL AND METHODS: Non randomized prospective trial of 13 patients with repaired CDH between 1997-2005. An initial physical exploration and a pre-post assessment of bioimpedance (BIA), dynamometry, maximal inspiratory and expiratory pressure (MIP/MEP), 6-minute walk test (6MWT), physical activity level (IPAQ) and quality of life (QoL) was made. The training program last for 4 weeks. For the statistical analysis, the Student's t test for paired samples and Wilcoxon test were used. RESULTS: 77% (n=10) were male with a mean age of 19.23±2.13 years. In baseline BIA, 62% (n=8) had truncal sarcopenia that improved in -0.43±0.58, and P=.016. MIP, MEP, 6MWT and QoL tests increased by -7.27±8.26 cmH2O, P=.008; -11.91±10.20 cmH2O, P=.002; -70.63±17.88 m, P=.001; -42,19±26.79, P=.00 respectively. The IPAQ did not change significantly (P=0.86), however the time dedicated to muscle strengthening increased. No adverse effects were reported. CONCLUSIONS: A personalized rehabilitation program is safe and could improve the respiratory muscle strength and truncal sarcopenia as well as the submaximal effort capacity in late adolescents and young adults with repaired CDH.

Hernia diafragmática congénita de presentación tardía Reporte de caso con revisión de literatura / Late Presentation Congenital Diaphragmatic Hernia: Case Report with Literature Review

Resumen Una hernia diafragmática congénita ocurre cuando existe un defecto estructural en el diafragma que permite la migración de los órganos abdominales a la cavidad torácica. Se considera de presentación tardía cuando se diagnostica después de los 30 días de vida extrauterina. Más del 60% de los pacientes con hernia diafragmática congénita cuentan con un diagnóstico erróneo al momento del nacimiento, encontrándose dentro de los diagnósticos más frecuentes al derrame pleural, neumonía, neumotórax, neumatocele y absceso pulmonar. Presentamos el caso de una paciente del sexo femenino de 3 años que acudió a urgencias por dolor abdominal, náuseas, vómito, intolerancia a la vía oral y dificultad respiratoria. La radiografía de tórax evidenció migración de la cámara gástrica hacia el tórax, dessplazamiento de la silueta cardiaca y las estructuras del mediastino hacia la derecha con la punta de la sonda nasogástrica ubicada en el hemitórax izquierdo. Se concluyó el diagnóstico de hernia diafragmática de presentación tardía. La paciente recibió tratamiento quirúrgico, el cual fue exitoso. Este trabajo destaca la importancia de sospechar el diagnóstico de hernia diafragmática congénita de presentación tardía cuando se abordan pacientes pediátricos con dificultad respiratoria sin otra causa aparente, dolor abdominal, náuseas y vómito.

Abstract A congenital diaphragmatic hernia occurs when the diaphragm has a structural defect that allows the migration of abdominal organs into the chest cavity. It is called late presentation when its diagnosis does after 30 days of life. More than 60% of patients with congenital diaphragmatic hernia are misdiagnosed. The most common misdiagnoses are pleural effusion, pneumonia, pneumothorax, pneuma tocele, and lung abscess. We present a case of a 3-year-old female who attended the emergency room due to abdominal pain, nausea, vomiting, intolerance to the oral route, and respiratory distress. The chest X-ray showed migration of the gastric chamber towards the thorax, displacement of the cardiac silhouette and the mediastinal structures to the right, and the tip of the nasogastric tube located in the left hemithorax. The doctors concluded a late presentation diaphragmatic hernia. The patient received surgical treatment, which was successful. This paper highlights the importance of suspecting the diagnosis of late-onset congenital diaphragmatic hernia when treating pediatric patients with respiratory distress without another apparent cause, abdominal pain, nausea, and vomiting.

Hernia diafragmática congénita de diagnóstico tardío / Late presenting congenital diaphragmatic hernia

La hernia diafragmática congénita es un defecto del desarrollo diafragmático que suele diagnosticarse prenatalmente o en el periodo neonatal. Aunque su presentación tardía se asocia a mejor pronóstico, el diagnóstico supone en ocasiones un reto debido a su curso inespecífico. Resulta interesante conocer su existencia ante cuadros clínicos de difícil diagnóstico (AU)

Congenital diaphragmatic hernia is a diaphragmatic developmental defect that usually presents prenatally or in the neonatal period. Although its late presentation is associated with a better prognosis, the diagnosis is sometimes a challenge due to its non-specific course. It is interesting to know its existence in clinical presentations that are difficult to diagnose. (AU)

Descripción de un caso de hernia diafragmática de Morgagni con derrame pericárdico masivo resuelto mediante pericardiocentesis intrauterina / Description of a case of Morgagni's diaphragmatic hernia with massive pericardial effusion resolved by intrauterine pericardiocentesis

Introducción: Las hernias diafragmáticas de Morgagni diagnosticadas prenatalmente son una rara entidad, con menor riesgo asociado de hipoplasia pulmonar y problemas respiratorios que las hernias diafragmáticas posteriores. Nuestro caso pone de manifiesto cómo en los casos de hernia diafragmática de Morgagni los pulmones tienden a desarrollarse completamente, a pesar del significativo derrame pericárdico o cuán disminuidos pueden aparentar. Principales síntomas y/o hallazgos clínicos: Hernia diafragmática de Morgagni diagnosticada a las 14 semanas de gestación, con derrame pericárdico masivo y herniación torácica anterior del hígado. Diagnósticos principales, intervenciones terapéuticas y resultados: No se identificaron otras malformaciones asociadas, se descartaron otras causas de derrame pericárdico y el cariotipo fetal analizado fue normal. A las 25 semanas, se realizó una pericardiocentesis fetal intrauterina, consiguiendo una significativa distensión pulmonar, con una adecuada vascularización. Tras el nacimiento, la recién nacida precisó soporte ventilatorio debido a una hipoxemia severa causada por la hipertensión pulmonar, corrigiéndose el defecto quirúrgicamente a los 6 días de vida. La evolución posterior fue favorable, sin presentar problemas respiratorios significativos. Conclusión: La detección ecográfica de esta rara anomalía resulta útil para el manejo óptimo, y el drenaje pericárdico puede favorecer una resolución prenatal del derrame pericárdico, permitiéndonos evaluar de forma adecuada el riesgo de hipoplasia pulmonar.(AU)

Introduction: Morgagni diaphragmatic hernia with prenatal diagnosis is a rare entity, with lower risk of pulmonary hypoplasia and respiratory problems than posterior diaphragmatic hernia. Our case highlights how in Morgagni diaphragmatic hernia cases lungs tend to develop properly, despite significant pericardial effusion or how greatly diminished they may seem. Main symptoms and/or clinical findings: Morgagni diaphragmatic hernia diagnosed at 14 weeks, with massive pericardial effusion and anterior thoracic herniation of the liver. Main diagnosis, therapeutic interventions, and results: No other malformations were identified, other causes of pericardial effusion were ruled out and foetal karyotype was normal. At 25 weeks, in-utero pericardiocentesis was performed, observing significant pulmonary distension and adequate vascularization. After delivery, the newborn required respiratory support due to severe hypoxaemia related to pulmonary hypertension. Six days later surgical diaphragm closure was performed. The newborn had no significant respiratory problems and progressed positively after surgery. Conclusion: Ultrasonographic detection of this rare anomaly is useful for optimal management, and pericardial drainage can provide prenatal resolution of pericardial effusion, enabling us to evaluate pulmonary hypoplasia risk.(AU)

Calidad de vida en adolescentes intervenidos de herniadiafragmática congénita / Quality of life in adolescents who underwent congenital diaphragmatic hernia surgical repair

Objetivo: Los avances en el tratamiento quirúrgico y posnatal hanmejorado significativamente la supervivencia de pacientes con herniadiafragmática congénita (HDC). La morbilidad asociada sigue siendosignificativa. El objetivo del estudio es evaluar el efecto de estas se-cuelas sobre la calidad de vida relacionada con la salud (CVRS) deadolescentes y adultos jóvenes supervivientes de HDC y compararlacon la población general. Material y métodos: Estudio descriptivo transversal de pacientesdiagnosticados de HDC entre 1997 y 2004. Supervivencia, localiza-ción, tamaño de la hernia, órganos herniados, necesidad de oxigenaciónpor membrana extracorpórea, tiempo de ventilación mecánica. Estudio comparativo de CVRS actual de pacientes supervivientes mediante laencuesta SF-36 (36-Item Health Survey Short Form): función física,rol físico, dolor corporal, salud general, vitalidad, función social, rolemocional, salud mental. Utilizamos datos de 24 adolescentes sanoscomo grupo control. Resultados: De los 29 supervivientes (70,7%), fueron localizados21 y contestaron la encuesta 16, que consideraron tener una calidad devida global buena o muy buena. El grupo de adolescentes intervenidostuvieron mejores resultados en las esferas de vitalidad (p = 0,001) ysalud mental (p < 0,05), pero la puntuación de la CVRS global y elresto de dimensiones de salud fueron similares. No se objetivaron diferencias significativas en relación con el tamaño diafragmático ni lanecesidad de ECMO. Conclusiones: Los adolescentes supervivientes intervenidos deHDC consideran tener una calidad de vida similar a jóvenes de su mis-ma edad. Los resultados de nuestro estudio son alentadores y permitenun mejor asesoramiento para futuros pacientes con HDC.(AU)

Objective: The advances made in the surgical and postnataltreatment of congenital diaphragmatic hernia (CDH) have consid-erably improved patient survival, but morbidity remains significant.The objective of this study was to analyze the effect these sequelshave on the health-related quality of life (HRQL) of adolescents andyoung adults who have survived CDH, and to compare it with thatof the general population. Materials and methods: A transversal descriptive study of pa-tients diagnosed with CDH in our institution from 1997 to 2004 wascarried out. Survival, location, hernia size, herniated organs, need forextracorporeal membrane oxygenation, and mechanical ventilationtime were analyzed. In addition, a comparative study of the currentHRQL of survivors was conducted using the SF-36 survey (36-Item Health Survey Short Form), which assessed physical function,physical role, body pain, general health, vitality, social function,emotional role, and mental health. Data of 24 healthy adolescentswas used as a control group. Results: Of the 29 survivors (70.7%), 21 were successfullycontacted, and 16 responded to the survey. They all claimed theiroverall quality of life was good or very good. The group of ado-lescents who underwent CDH surgical repair had better results inthe vitality (p= 0.001) and mental health (p< 0.05) areas, but theoverall HRQL score and the remaining health areas were similar.No significant differences were found regarding diaphragmatic sizeor need for ECMO. Conclusions: According to adolescent survivors who underwentCDH surgical repair, their quality of life is similar to that of otherindividuals of their age. Our results are encouraging and may proveuseful for future parents of CDH patients.(AU)

Atresia duodenal con apple peel asociada a herniadiafragmática congénita: un caso excepcional yrevisión de la literatura / Duodenal atresia with apple peel associated with congenital diaphragmatic hernia: an exceptional case and a literature review

Introducción: La atresia duodenal asociada con appel peel es extremadamente infrecuente. La primera se produce por un defecto en larecanalización en etapas tempranas, mientras que la atresia intestinalparece deberse a causas vasculares en etapas más tardías. La presenciade anomalías asociadas a la hernia diafragmática es común, pero laasociación con la atresia duodenal apenas está descrita.Caso clínico: Presentamos un recién nacido de 31 semanas de gestación y sexo femenino, con atresia duodenal y apple peel, asociada ahernia diafragmática izquierda y cardiopatía mayor. Se realizó un flapmuscular abdominal para el cierre del defecto diafragmático y anastomosis duodenoyeyunal tras la resección de parte del apple peel inviable.Comentarios: A nuestro entender, es el primer caso descrito conesta asociación singular. La combinación de atresia duodenal con apple peel se ha descrito previamente en 11 ocasiones; la asociación de ambascon hernia diafragmática congénita no había sido descrita.

Introduction: Duodenal atresia associated with apple peel is extremely rare. Duodenal atresia occurs as a result of absence of recanali-zation at an early stage, whereas intestinal atresia is seemingly due tovascular causes at later stages. The presence of abnormalities associatedwith diaphragmatic hernia is frequent, but association with duodenalatresia has been little explored.Care report: This is the case of a female neonate born at gestational week 31, with duodenal atresia and apple peel, associated withleft diaphragmatic hernia and major heart disease. An abdominal muscle flap was performed for diaphragmatic defect closure purposes, and duodenojejunal anastomosis was carried out following resection of partof the non-viable apple peel.Discussion: To our knowledge, this is the first case described with this rare association. The combination of duodenal atresia and applepeel had been previously described 11 times. However, the associationof both with congenital diaphragmatic hernia had not been reported yet.

Hernia diafragmática congénita en la gestación gemelar / Congenital diaphragmatic hernia in twin gestation

La hernia diafragmática congénita (HDC) en un feto de una gestación gemelar es una situación extremadamente infrecuente y de difícil manejo. La cirugía fetal no parece una opción válida debido al alto riesgo de rotura prematura de membranas y/o parto prematuro. La interrupción fetal selectiva debe hacerse antes de la semana 22, y tampoco está exenta de riesgos. El manejo expectante se asocia a la prematuridad y a fetos de bajo peso característicos de una gestación gemelar. Por tanto, el asesoramiento a los padres por parte de un equipo multidisciplinar es crucial en la toma de decisiones. La cesárea programada a término parece ser la vía más razonable en estos casos, sobre todo si es el segundo gemelo el afecto por HDC. Se presentan 6 casos de gestaciones gemelares bicoriales con uno de los fetos afecto de HDC con diferentes manejos y evoluciones obstétricas.(AU)

Congenital diaphragmatic hernia (CDH) in a twin gestation foetus is an extremely infrequent and difficult situation to manage. Foetal surgery does not seem to be an option due to the high risk of premature rupture of membranes and/or preterm delivery. Selective foetal termination must be done before 22 weeks and is also not without risk. Expectant management is associated with prematurity and low weight foetuses characteristic of twin gestation. Therefore, parental counselling by a multidisciplinary team is crucial in decision making. Programmed caesarean section at term seems to be the most reasonable route in these cases, especially if the second twin is affected by CDH. Six cases of bicornuate twin gestations with one of the foetuses affected by CDH are presented, with different management and obstetric outcomes.(AU)

Llanto inexplicable en un lactante sano. Hernia diafragmática congénita de presentación tardía / Unexplained crying in a healthy infant. Late-onset congenital diaphragmatic hernia

La hernia diafragmática congénita es un defecto simple del diafragma que permite el paso de los órganos abdominales al tórax. En la mayoría de los casos, se manifiesta en el periodo neonatal, con un cuadro de dificultad respiratoria grave, pero en algunos casos su presentación puede ser más tardía y con síntomas más diversos. Presentamos el caso de un lactante de seis meses que acude a Urgencias por irritabilidad y llanto persistente de una hora de evolución. La radiografía y ecografía torácica confirmaron el diagnóstico de hernia diafragmática (AU)

Congenital diaphragmatic hernia is a defect of the diaphragm that allows the passage of abdominal organs to the chest. Respiratory distress in the neonatal period is the most common presenting symptom, but in some cases its presentation may be later and with more diverse symptoms. We report a case of a 6-month-old infant who attended the emergency room due to irritability and persistent crying for one hour. Chest radiography and ultrasound confirmed the diagnosis of diaphragmatic hernia. (AU)

Comparación de recidiva posterior a hernioplastía diafragmática con cierre directo versus colocación de parche / Comparison of recurrence after diaphragmatic hernioplasties with direct closure versus patch placement

Resumen Objetivo: Investigar con cuál técnica quirúrgica, cierre directo o con parche de Goretex, las hernias diafragmáticas congénitas operadas tienen más recidiva. Metodología: Los datos de los pacientes sometidos a reparación por hernia diafragmática congénita en el Hospital Nacional de Niños, entre enero 2008 y el 31 diciembre de 2017, fueron revisados retrospectivamente. De los 94 pacientes, solo 59 cumplen con los criterios de inclusión. Para la comparación de las variables cuantitativas se empleó pruebas de T de Student e intervalos de confianza al 95 %; las variables cualitativas se analizaron por la prueba de Fisher con un nivel de significancia de 0,05. Resultados: La mayoría de las hernias diafragmáticas operadas fueron izquierdas (78 %) y posterolaterales (91 %). La técnica de reparación más frecuente utilizada fue el cierre directo (68%). Hubo más recidivas posteriores a cierre con parche de Goretex. Se presentaron entre 1 y 12 meses postoperatorio. No hubo diferencia estadísticamente significativa entre recidivas con técnica de cierre directo versus cierre con parche de Goretex. Conclusión: Realizar un cierre directo del diafragma es una buena opción quirúrgica para reparación de hernia diafragmática congénita. No hubo en este estudio diferencias estadísticamente significativas en cuanto a recidiva entre utilizar técnica con cierre directo o con parche.

Abstract Objective: To investigate with which surgical technique, direct closure or use of a Goretex patch, congenital diaphragmatic hernias recurre more. Methodology: The data of the patients who underwent repair of congenital diaphragmatic hernia at the National Children's Hospital from January 2008 to December 31, 2017, were reviewed retrospectively. Of the 94 patients, only 59 met the inclusion criteria. For the comparison of the quantitative variables, Student's t-test and 95% confidence intervals were used, the qualitative variables were analyzed by the Fisher's test with a significance level of 0.05. Results: Most of the operated diaphragmatic hernias were left 78% and posterolateral 91%. The most frequent repair technique used was direct closure, 68%. There were more recurrences after closing when a Goretex patch was used. They occurred between 1 and 12 months post-operatively. There was no statistically significant difference between recurrences with the direct closure technique versus closure with the Goretexpatch. Conclusion: Performing a direct closure of the diaphragm is a good surgical option for surgical repair of congenital diaphragmatic hernias. There were no statistically significant differences in relapse in this study between using the direct closure or patch technique.

Factores de riesgo asociados a mortalidad en recién nacidos con hernia diafragmática congénita / Risk factors associated with mortality in newborn infants with congenital diaphragmatic hernia

Introducción. La hernia diafragmática congénita presenta alta morbimortalidad. Existen herramientas para predecir sobrevida, tanto prenatal (índice pulmón-cabeza observado/esperado ­observed/expected lung-to-head ratio; OE-LHR, por sus siglas en inglés­, presencia de hígado en tórax) como posnatal (puntaje del Grupo de Estudio sobre Hernia Diafragmática Congénita, Congenital Diaphragmatic Hernia Study Group, CDHSG). El objetivo fue identificar factores de riesgo asociados a mortalidad y estimar la mortalidad ajustada por riesgo prenatal en el subgrupo de pacientes con hernia izquierda aislada.Población y métodos. Estudio retrospectivo y analítico de pacientes nacidos en el Hospital Italiano de Buenos Aires durante 2011-2018. Se realizó un análisis multivariable para evaluar factores de riesgo asociados a mortalidad. Para la mortalidad ajustada por riesgo prenatal, se realizó una razón entre la mortalidad observada y la media "esperada" según el OE-LHR.Resultados. Se incluyeron 53 pacientes. La mediana de edad gestacional fue 38 semanas, y la media de peso al nacer, 3054 gramos. El 73 % de los pacientes tuvo hernia aislada. La mortalidad global fue del 45 %, mayor en pacientes con malformaciones asociadas. En el análisis multivariable, la presencia de hipertensión pulmonar grave estimada por ecocardiografía postnatal se asoció en forma independiente a mortalidad: (odds ratio ajustado 6,4; IC 95 %: 1,02-40). La mortalidad global observada en pacientes con hernia izquierda aislada fue similar a la esperada (razón 1,05).Conclusión. La mortalidad global es similar a la esperada según el OE-LHR. En nuestra población, la hipertensión pulmonar grave luego del nacimiento resultó determinante de la mortalidad.

Introduction. Morbidity and mortality are high in congenital diaphragmatic hernia. Some tools help to predict survival, both prenatally (observed/expected lung-to-head ratio [OE-LHR], presence of the liver in the chest) and postnatally (Congenital Diaphragmatic Hernia Study Group [CDHSG] score). Our objective was to identify the risk factors associated with mortality and estimate the risk-adjusted mortality in the prenatal period in the subgroup of patients with isolated left-sided hernia.Population and methods. Retrospective and analytical study of patients born at Hospital Italiano de Buenos Aires between 2011 and 2018. A multivariate analysis was done to assess mortality-associated risk factors. For risk-adjusted mortality in the prenatal period, the ratio between the observed mortality and the mean "expected" mortality based on the OE-LHR was estimated.Results. A total of 53 patients were included. Their median gestational age was 38 weeks, and their mean birth weight was 3054 g. Isolated hernia was observed in 73 % of patients. Overall mortality was 45 %, and higher in patients with associated malformations. In the multivariate analysis, the presence of severe pulmonary hypertension estimated by postnatal echocardiogram was independently associated with mortality (adjusted odds ratio: 6.4, 95 % confidence interval: 1.02-40). The observed overall mortality in patients with isolated left-sided hernia was similar to that expected (ratio: 1.05).Conclusion. Overall mortality was similar to that expected based on the OE-LHR. In our population, severe pulmonary hypertension after birth was a determining factor of mortality

Hernia diafragmática congénita recurrente asociada a malrotación intestinal / Recurrent congenital diaphragmatic hernia associated with intestinal malrotation

RESUMEN La recurrencia de las hernias diafragmáticas congénitas, luego de reparadas quirúrgicamente, es de baja frecuencia. Se presenta el caso de un paciente masculino de 22 años con hernia diafragmática congénita reparada inicialmente al segundo día de vida, el cual presenta disnea grado 1 y enfermedad por reflujo gastroesofágico. Se evidencia por medio de imagen una hernia diafragmática izquierda, el saco herniario con contenido de bazo, colon, cola de páncreas y glándula suprarrenal izquierda. Se aborda de manera abdominal mediante incisión subcostal izquierda, se reduce el saco herniario, se coloca malla tipo en el defecto diafragmático y se realiza procedimiento de Ladd por la presencia de malrotación intestinal.

ABSTRACT Recurrence of congenital diaphragmatic hernia, after surgical repair, is infrequent. Here, we report the case of a 22-year-old male patient with a history of congenital diaphragmatic disease initally treated with surgery on the second day of life who presented class I dyspnea and gastroesophageal reflux. A left diaphragmatic hernia with a hernia sac containing the spleen, colon, tail of pancreas and left adrenal gland. The patient underwent surgical repair via a left subcostal incision; the hernia sac was reduced, the diaphragmatic defect was repaired with a mesh and the Ladd procedure was performed due to the diagnosis of intestinal malrotation.

Hernia de Bochdalek en adulto: una entidad extremadamente infrecuente. Reporte de caso / Bochdalek hernia in adult: an extremely infrequent entity

Resumen Introducción: La hernia de Bochdalek es el tipo de hernia diafragmática congénita más frecuente. Existen menos de 200 reportes en adultos, lo cual representa el 5% de la literatura médica. Por lo que su diagnóstico es excepcional. Caso clínico: Mujer de 23 años de edad, ingresó referida de su unidad de salud con diagnóstico de neumotórax espontáneo tras presentar dolor en el hemitórax izquierdo y disnea 24 horas posteriores a trabajo de parto. En el servicio de urgencias se colocó sonda endopleural; sin embargo, al no obtener reexpansión pulmonar, se solicitó TAC simple toracoabdominal e interconsulta con los servicios de radiología y cirugía. Se realizó diagnóstico de hernia de Bochdalek incarcerada y laparotomía urgente con cierre primario del defecto herniario. Cursó con adecuada evolución y fue egresada al cuarto día postoperatorio. Discusión: El diagnóstico de hernia de Bochdalek se asocia a errores diagnósticos hasta en 38% de los casos, dada su baja incidencia y variedad de presentación clínica. En este caso se realizó un diagnóstico inicial de neumotórax con colocación de sonda endopleural, lo cual pudo haber ocasionado graves consecuencias. Conclusión: El diagnóstico de hernia de Bochdalek representa un reto ya que el retraso del manejo se asocia a riesgo elevado de complicaciones.

Abstract Introduction: The Bochdalek hernia is the most common congenital diaphragmatic defect. There are less than 200 cases reported in adults, which represent about 5% of the cases in medical literature; therefore, its diagnosis is hard to make. Clinical case: A 23-year-old female patient who was referred from her medical institution with a diagnosis of spontaneous pneumothorax after suffering from left hemithorax pain and dyspnea 24 hours after undergoing labor. At the emergency room, an endopleural tube was placed, but since there was no pulmonary re-expansion, an unenhanced CT scan was performed and a medical petition was requested to the radiology and surgery department. A diagnosis of incarcerated Bochdalek hernia was made and the patient underwent an emergency laparotomy with primary closure. She recovered successfully and was discharged from hospital on the fourth postoperative day. Discussion: Bochdalek hernia is misdiagnosed in about 38% of the cases because of its low incidence and the different types of clinical presentations. In this case, the main diagnosis was initially a spontaneous pneumothorax with endopleural seal placement, which could have caused several complications. Conclusion: The Bochdalek hernia represents a diagnostic challenge because delaying its management is associated with high-risk complications.

Cirugía fetal para hernia diafragmática congénita en América Latina

Congenital diaphragmatic hernia is an anomaly in the formation of the diaphragm, which is associated with high neonatal mortality secondary to pulmonary hypoplasia and neonatal pulmonary arterial hypertension. Diagnosis is made by ultrasound, usually in the 20th week of gestation, and it is mandatory to request genetic studies (karyotype and microarrays) due to the high risk of chromosomal and monogenic anomalies. In isolated cases, the estimation of lung size in combination with the identification of liver herniation is the best predictive parameter of neonatal survival. In cases with serious pulmonary hypoplasia, fetoscopic tracheal occlusion has improved the survival rate in 30%. In this article, indications, selection criteria, technique and results of fetoscopic tracheal occlusion are reviewed, and differences in neonatal survival rate in Latin America are highlighted.

La hernia diafragmática congénita es una anomalía en la formación del diafragma, asociada a elevada mortalidad neonatal secundaria a hipoplasia pulmonar e hipertensión arterial pulmonar neonatal. El diagnóstico se realiza por ultrasonido, generalmente en la semana 20 de gestación, y es mandatorio solicitar estudios genéticos (cariotipo y microarreglos) debido al alto riesgo de asociación con anomalías cromosómicas y monogénicas. En casos aislados, la estimación del tamaño pulmonar en combinación con la identificación de herniación hepática es el mejor parámetro predictivo de supervivencia neonatal. En los casos con hipoplasia pulmonar grave, la oclusión traqueal fetoscópica ha demostrado una mejoría en la tasa de supervivencia en 30% con respecto a la probabilidad basal. En este artículo, se resume las indicaciones, criterios de selección, técnica y resultados de la oclusión traqueal fetoscópica, destacando las diferencias de tasa de supervivencia neonatal que existen en América Latina.

Utilidad de factores pronósticos antenatales en pacientes con hernia diafragmática congénita aislada / Usefulness of antenatal prognostic factors in patients with hernia congenital diaphragmatic isolated

La Hernia Diafragmática Congénita (HDC) corresponde a una malformación del diafragma por la cual los órganos abdominales protruyen hacia la cavidad torácica durante el desarrollo intrauterino. Los recién nacidos afectados presentan grados variables de insuficiencia respiratoria e hipertensión pulmonar, asociándose a una alta morbilidad y mortalidad. Materiales y métodos: Se revisaron los casos de HDC controlados en los períodos pre y post-natal en el Hospital Clínico UC durante el período 2012-2016. Se analizaron los resultados perinatales según distintos factores pronósticos. Resultados: Fueron analizadas 26 embarazadas con diagnóstico de HDC. La sobrevida global fue de un 77% (20/26). La mortalidad global de las pacientes con herniación hepática fue de un 45% (5/11) versus 7% (1/15) en los fetos con hígado no herniado. La mortalidad neonatal fue de un 14% (3/21) en las pacientes con la relación pulmón cabeza (LHR), (observado/ esperado) o/e ≥ a 45% y 60% (3/5) cuando el LHR o/e es < 45%. De las pacientes con LHR o/e ≥ 45%, la necesidad de ECMO fue de un 33% (8/21) mientras que un LHR o/e < 45% fue de un 20% (1/5). Conclusión: La obtención antenatal de un LHR o/e ≥ 45% y ausencia de herniación hepática, son buenos predictores de sobrevida neonatal. La medición de LHR o/e no es capaz de discriminar que pacientes desarrollarán morbilidad respiratoria grave, por lo que debemos buscar nuevos y mejores modelos que permitan seleccionar que pacientes requerirán nacer en un centro con disponibilidad de terapias de soporte vital avanzado como el ECMO neonatal. (AU)

Congenital Diaphragmatic Hernia (CDH) is a malformation of the diaphragm muscle in which the abdominal organs protrude into the thoracic cavity during intrauterine development. Affected newborns have varying degrees of respiratory failure and pulmonary hypertension, associated with high morbidity and mortality. Materials and methods: Controlled HDC cases were reviewed in the pre and post-natal periods at the Clinical Hospital UC during the period 2012-2016. Perinatal results were analyzed according to different prognostic factors. Results: During the 2012-2016 period, 26 pregnant women with a diagnosis of CDH were monitored. The overall mortality of patients with hepatic herniation was 45% (5/11) versus 7% (1/15) in fetuses with a non-herniated liver. Neonatal mortality was 14% (3/21) in patients with o/e (observed/expected) LHR ≥ 45% and 60% (3/5) when the o/e LHR <45%. Of the patients with o/e LHR ≥ 45%, the need for ECMO was 33% (8/21), while a LHR o/e <45% was 20% (1/5). Conclusion: An o/e LHR ≥ 45% and absence of hepatic herniation are good predictors of neonatal survival. The o/e LHR measurement is not capable of identifying which patients will develop severe respiratory morbidity, so we must explore new and better models that allow us to select patients who need to give birth in centers with available advanced life support therapies, such as neonatal ECMO. (AU)

Fetoscopic tracheal occlusion for severe congenital diaphragmatic hernia: retrospective study / Oclusão traqueal por fetoscopia em hérnia diafragmática congênita grave: estudo retrospectivo

Abstract Background and objectives: The temporary fetal tracheal occlusion performed by fetoscopy accelerates lung development and reduces neonatal mortality. The aim of this paper is to present an anesthetic experience in pregnant women, whose fetuses have diaphragmatic hernia, undergoing fetoscopic tracheal occlusion (FETO). Method: Retrospective, descriptive study, approved by the Institutional Ethics Committee. Data were obtained from medical and anesthetic records. Results: FETO was performed in 28 pregnant women. Demographic characteristics: age 29.8 ± 6.5; weight 68.64 ± 12.26; ASA I and II. Obstetric: IG 26.1 ± 1.10 weeks (in FETO); 32.86 ± 1.58 (reversal of occlusion); 34.96 ± 2.78 (delivery). Delivery: cesarean section, vaginal delivery. Fetal data: Weight (g) in the occlusion and delivery times, respectively (1045.82 ± 222.2 and 2294 ± 553); RPC in FETO and reversal of occlusion: 0.7 ± 0.15 and 1.32 ± 0.34, respectively. Preoperative maternal anesthesia included ranitidine and metoclopramide, nifedipine (VO) and indomethacin (rectal). Preanesthetic medication with midazolam IV. Anesthetic techniques: combination of 0.5% hyperbaric bupivacaine (5-10 mg) and sufentanil; continuous epidural predominantly with 0.5% bupivacaine associated with sufentanil, fentanyl, or morphine; general. In 8 cases, there was need to complement via catheter, with 5 submitted to PC and 3 to BC. Thirteen patients required intraoperative sedation; ephedrine was used in 15 patients. Fetal anesthesia: fentanyl 10-20 mg.kg-1 and pancuronium 0.1-0.2 mg.kg-1 (IM). Neonatal survival rate was 60.7%. Conclusion: FETO is a minimally invasive technique for severe congenital diaphragmatic hernia repair. Combined blockade associated with sedation and fetal anesthesia proved safe and effective for tracheal occlusion.

Resumo Justificativa e objetivos: A oclusão traqueal fetal temporária feita por meio da fetoscopia acelera o desenvolvimento pulmonar e reduz a mortalidade neonatal. O objetivo deste trabalho é apresentar experiência anestésica em gestantes cujos fetos eram portadores de hérnia diafragmática e foram submetidos à oclusão traqueal por fetoscopia (FETO). Método: Estudo retrospectivo, descritivo, aprovado pelo Comitê de Ética da Instituição. Os dados foram obtidos das fichas anestésicas e dos prontuários. Resultados: A FETO foi feita em 28 gestantes. Características demográficos: idade 29,8 ± 6,5; peso 68,64 ± 12,26; ASA I e II. Obstétricas: IG 26,1 ± 1,10 semana (na FETO); 32,86 ± 1,58 (desoclusão); 34,96 ± 2,78 (parto). Via de parto: cesárea, parto vaginal. Dados fetais: peso (g) nos momentos da oclusão e nascimento, respectivamente (1.045,82 ± 222,2 e 2294 ± 553); RPC na FETO e desoclusão: 0,7 ± 0,15 e 1,32 ± 0,34, respectivamente. Anestesia materna: pré-operatório incluiu ranitidina e metoclopramida; nifedipina (VO) e indometacina (retal). Medicação pré-anestésica com midazolam EV. Técnicas anestésicas: bloqueio combinado com bupivacaína 0,5% hiperbárica 5-10 mg associada ao sufentanil; peridural contínua predominantemente com bupivacaína 0,5% associada a sufentanil, fentanil ou morfina; geral. Em oito casos houve necessidade de complementação pelo cateter, cinco nas submetidas a PC e três a BC. No intraoperatório 13 pacientes necessitaram de sedação; efedrina foi usada em 15 pacientes. Anestesia fetal: fentanil 10 a 20 mg.kg-1 e pancurônio 0,1-0,2 mg.kg-1 (IM). A taxa de sobrevida neonatal foi de 60,7%. Conclusão: A FETO constitui técnica minimamente invasiva para correção de hérnia diafragmática congênita grave. O bloqueio combinado associado à sedação e anestesia fetal se mostrou seguro e eficaz para a oclusão traqueal.

[Fetoscopic tracheal occlusion for severe congenital diaphragmatic hernia: retrospective study]. / Oclusão traqueal por fetoscopia em hérnia diafragmática congênita grave: estudo retrospectivo.

BACKGROUND AND OBJECTIVES: The temporary fetal tracheal occlusion performed by fetoscopy accelerates lung development and reduces neonatal mortality. The aim of this paper is to present an anesthetic experience in pregnant women, whose fetuses have diaphragmatic hernia, undergoing fetoscopic tracheal occlusion (FETO). METHOD: Retrospective, descriptive study, approved by the Institutional Ethics Committee. Data were obtained from medical and anesthetic records. RESULTS: FETO was performed in 28 pregnant women. Demographic characteristics: age 29.8±6.5; weight 68.64±12.26; ASA I and II. Obstetric: IG 26.1±1.10 weeks (in FETO); 32.86±1.58 (reversal of occlusion); 34.96±2.78 (delivery). Delivery: cesarean section, vaginal delivery. Fetal data: Weight (g) in the occlusion and delivery times, respectively (1045.82±222.2 and 2294±553); RPC in FETO and reversal of occlusion: 0.7±0.15 and 1.32±0.34, respectively. Preoperative maternal anesthesia included ranitidine and metoclopramide, nifedipine (VO) and indomethacin (rectal). Preanesthetic medication with midazolam IV. Anesthetic techniques: combination of 0.5% hyperbaric bupivacaine (5-10mg) and sufentanil; continuous epidural predominantly with 0.5% bupivacaine associated with sufentanil, fentanyl, or morphine; general. In 8 cases, there was need to complement via catheter, with 5 submitted to PC and 3 to BC. Thirteen patients required intraoperative sedation; ephedrine was used in 15 patients. Fetal Anesthesia: fentanyl 10 to 20mg·kg-1 and pancuronium 0,1-0,2mg·kg-1 (IM). Neonatal survival rate was 60.7%. CONCLUSION: FETO is a minimally invasive technique for severe congenital diaphragmatic hernia repair. Combined blockade associated with sedation and fetal anesthesia proved safe and effective for tracheal occlusion.

Hernia diafragmática congénita de presentación tardía / Late-presenting congenital diaphragmatic hernia

La hernia diafragmática congénita de presentación tardía (HDCT) es una entidad infrecuente, representa del 5 a 20 % de todos los casos de hernia diafragmática congénita. La presentación clínica, diagnóstico y tratamiento difiere de la hernia de presentación neonatal, dada la ausencia de hipoplasia e hipertensión pulmonar. El amplio espectro clínico de la presentación tardía o su hallazgo radiológico incidental, pueden plantear un desafío diagnóstico; la demora en su detección y abordaje aumentan la morbimortalidad y ensombrecen el pronóstico. Presentamos el caso de una escolar de 8 años de edad a quien se le diagnostica una hernia diafragmática congénita izquierda y se hace revisión del diagnóstico, tratamiento y pronóstico de la enfermedad.

The late-presenting congenital diaphragmatic hernia is a rare entity that corresponds to the 5 - 20% of all congenital diaphragmatic hernia cases. The clinical manifestations ,diagnosis and treatment differ from the neonatal presentation in the absence of pulmonary hypoplasia and pulmonary hypertension. The wide clinical spectrum of the late-presenting diaphragmatic hernia or its incidental finding on radiological images can lead to a challenging diagnosis. The delay in the detection and approach increases the morbidity and mortality, and darkens the prognosis. We are presenting a case of an eighth year-old scholar who is diagnosed with a congenital left diaphragmatic hernia, as well as a review of the diagnosis, treatment and prognosis of this pathology.

Hernia diafragmática congénita bilateral de diagnóstico tardío: reporte de un caso / Late diagnosis bilateral congenital diaphragmatic hernia: a case report

La hernia diafragmática congénita (HDC) es una malformación rara, habitualmente unilateral y más frecuente del lado izquierdo. La HDC bilateral representa el 1% de todas las HDC. La mortalidad es mayor en las HDC derechas y en las bilaterales. Reportamos el caso de un paciente con HDC bilateral, cuya malformación inicialmente se diagnosticó y trató como una HDC derecha. Luego se encontró la presencia de HDC izquierda durante la cirugía de Ladd laparoscópica a los 8 meses de edad.

Congenital diaphragmatic hernia (CDH) is a rare malformation, usually unilateral and left sided. Bilateral CDH (B-CDH) represents 1% of all CDH. Mortality is higher in right side and bilateral defects. We report a case of a patient with Bilateral CDH, initially diagnosed and treated as unilateral right CDH. At 8 months during a laparoscopic Ladd procedure a left side CDH was found.

[Pulmonary hypoplasia: An analysis of cases over a 20-year period]. / Hipoplasia pulmonar: análisis de la casuística durante 20 años.

INTRODUCTION: Pulmonary hypoplasia is the most frequent congenital anomaly associated with perinatal mortality. MATERIAL AND METHODS: A retrospective and descriptive review was conducted on cases of patients diagnosed with pulmonary hypoplasia between 1995 and 2014 in a tertiary university hospital. An analysis was made of the prenatal imaging, clinical manifestations, post-natal diagnostic tests, treatment and management, long-term follow up, and survival data. RESULTS: A total of 60 cases were identified, all of them with prenatal imaging. Sixteen patients required foetal surgery. Congenital diaphragmatic hernia was the most frequent diagnosis. Main clinical presentation was respiratory distress with severe hypoxemia and high requirements of mechanical ventilation. Mortality rate was 47% within first 60 days of life, and 75% for the first day of life. Pneumonia and recurrent bronchitis episodes were observed during follow-up. They had a lung function obstructive pattern, and their quality of life and exercise tolerance was good. CONCLUSIONS: High neonatal mortality and significant long-term morbidity associated with pulmonary hypoplasia requires an early diagnosis and a specialised multidisciplinary team management.