Fisiopatología de la hernia diafragmática congénita en el recién nacido / Pathophysiology of congenital diaphramatic hernia in the newborn

La hernia diafragmática congénita es una discontinuidad del diafragma con herniación de los órganos abdominales a la cavidad torácica, actualmente se postula una hipótesis dual para su origen. Su fisiopatología está determinada por la hipoplasia pulmonar, la hipertensión pulmonar y la disfunción ventricular, entender estos elementos es necesario para un adecuado manejo y la mejoría del pronóstico.

Congenital diaphragmatic hernia is a discontinuity of the diaphragm with herniation of the abdominal organs into the thoracic cavity, currently a dual hypothesis for its origin is postulated. Its pathophysiology is determined by pulmonary hypoplasia, pulmonary hypertension and ventricular dysfunction, understanding these elements is necessary for adequate management and improve prognosis.

A retrospective study on the surgical management and outcome of congenital diaphragmatic hernia in neonates

Background: Congenital diaphragmatic hernia is a developmental disorder in the anatomy of the diaphragm, which can range from the presence of a thin sac to the frank absence of part of the diaphragm. It results in protrusion of abdominal contents in the chest. CDH once considered as a surgical emergency is no longer a valid dictum. But definitive management of CDH is the surgical correction of defect. Study the demographics, presentation, diagnosis, and surgical outcomes of congenital diaphragmatic hernia (CDH) repair without significant associated congenital anomalies at a tertiary care institute. Methods: This was a retrospective study over 3 years from January 2021 to December 2023. Data was collected and noted from the medical records department. Patient抯 clinical data in terms of demography, presentation, radiology, preoperative condition, timing of surgery after admission, intra-operative findings and post-operative course (including postoperative complications, duration of NICU stay, the incidence of sepsis, and need of inotropes), etc. Results: Most patients were male (85%). Among the total cohort, 70% were born outside the tertiary care institute and were referred from peripheral hospitals. Respiratory distress was the predominant complaint (85%). Congenital diaphragmatic hernia (CDH) was incidentally discovered in 5% of neonates. The majority of patients (70%) underwent surgical intervention between the 3rd postnatal day and up to one week. Left-sided herniation was observed in 90% of cases. An identifiable hernial sac was found in 18% of patients, with part or the entirety of the stomach being the most frequently encountered herniated viscera. Conclusions: Congenital diaphragmatic hernia (CDH) presents as a significant congenital anomaly in the pediatric surgery domain. Hidden mortality in case of CDH leads to underreporting of the actual incidence of the condition. The success of surgical intervention depends on a myriad of factors, encompassing patient-specific attributes and surgical methodologies. However, instances devoid of overt congenital anomalies and featuring stable preoperative physiological parameters typically yield satisfactory surgical outcomes, with favorable results.

Riñon torácico y hernia diafragmática: diagnóstico prenatal y manejo exitoso. Reporte de caso y revisión de la literatura / Thoracic kidney and diaphragmatic hernia: prenatal diagnosis and successful management. Case report and review of the literature

Objetivos: Reportar un caso de diagnóstico prenatal de riñón ectópico intratorácico (REI) con hernia diafragmática y manejo quirúrgico neonatal, y hacer una revisión de la literatura sobre diagnóstico prenatal de REI y el pronóstico perinatal. Materiales y métodos: Se reporta el caso de un feto de 28 semanas en el que se observó imagen ecográfica sugestiva de masa en hemitórax derecho que desplazaba corazón y pulmón; se confirmó que correspondía a un riñón intratorácico. Por laparoscopia, al recién nacido se le colocó una malla en continuidad con el diafragma dejando el riñón en el abdomen, con buena evolución. Se realizó una búsqueda bibliográfica en PubMed, Embase y Cochrane. Se buscaron cohortes, reportes y series de caso de gestaciones con diagnóstico prenatal de riñón intratorácico fetal. Se extrajo información del diseño, la población, el diagnóstico por imágenes, el tratamiento y el pronóstico. Resultados: En la búsqueda se identificaron 8 estudios que cumplieron con los criterios de inclusión y que informan en total ocho casos. El diagnóstico ecográfico mostró REI asociado a hernia diafragmática en todos los sujetos. Se utilizó también la RM fetal en cinco casos. Seis neonatos sobrevivieron sin complicaciones, en uno hubo interrupción voluntaria del embarazo, y otro presentó sepsis y dificultad respiratoria, finalmente fue dado de alta en buenas condiciones. Conclusiones: El REI es una anomalía congénita susceptible de diagnóstico prenatal. La sobrevida a la cirugía correctora en el periodo neonatal es frecuente. La literatura disponible en torno al diagnóstico prenatal de REI es escasa y se limita a reportes de casos.

Objectives: To report a case of prenatal diagnosis of ectopic intrathoracic kidney with diaphragmatic hernia managed surgically after birth, and to conduct a review of the literature on prenatal diagnosis of ectopic intrathoracic kidney and perinatal prognosis. Material and methods: We report the case of a 28-week fetus in which, on ultrasound imaging, a mass was observed displacing the heart and lung in the right hemithorax, which was was confirmed by magnetic resonance (MR) to be an ectopic intrathoracic kidney. After birth, the neonate was approached by laparoscopy to place a mesh in continuity with the diaphragm, leaving the kidney in the abdomen, with good evolution. A search was conducted in the PubMed, Embase and Cochrane databases for cohorts, case reports and case series of prenatal diagnosis of intrathoracic kidney in the fetus. Information was retrieved regarding design, population, imaging diagnosis, treatment and prognosis. Results: The search identified 8 studies that met the inclusion criteria, reporting a total of 8 cases. Ultrasound diagnosis showed ectopic intrathoracic kidney associated with diaphragmatic hernia in all the subjects. Fetal magnetic resonance imaging (MRI) was also used in 5 cases. Conclusions: Ectopic intrathoracic kidney is a congenital abnormality amenable to prenatal diagnosis. Survival after corrective surgery performed in the neonatal period is common. There is a paucity of publications, limited to case reports, regarding the prenatal diagnosis of this condition.

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.

The myocardial capillary network is altered in congenital diaphragmatic hernia in the fetal rabbit model

Congenital diaphragmatic hernia (CDH) is associated with thoracic compression of the lungs and heart caused by the herniated abdominal content, leading to cardiac modifications including pressure and vascular changes. Our aim was to investigate the experimental immunoexpression of the capillary proliferation, activation, and density of Ki-67, VEGFR2, and lectin in the myocardium after surgical creation of a diaphragmatic defect. Pregnant New Zealand rabbits were operated on the 25th gestational day in order to create left-sided CDH (LCDH, n=9), right-sided CDH (RCDH, n=9), and Control (n=9), for a total of 27 fetuses in 19 pregnant rabbits. Five days after the procedure, animals were sacrificed, and histology and immunohistochemistry studies of the harvested hearts were performed. Total body weight and heart weight were not significantly different among groups (P=0.702 and 0.165, respectively). VEGFR2 expression was increased in both ventricles in the RCDH group (P<0.0001), and Ki-67 immunoexpression was increased in the left ventricle in the LCDH group compared to Control and RCDH groups (P<0.0001). In contrast, capillary density was reduced in the left ventricle in the LCDH compared to the Control and RCDH groups (P=0.002). Left and right ventricles responded differently to CDH in this model depending on the laterality of the diaphragmatic defect. This surgical model of diaphragmatic hernia was associated with different expression patterns of capillary proliferation, activation, and density in the myocardium of the ventricles of newborn rabbits.

Post-natal prognostic factors in CDH: experience of 11 years in a referral center in Brazil

Abstract Objective To describe post-natal risk factors associated with death in Newborns (NB) with Congenital Diaphragmatic Hernia (CDH) in a Brazilian reference center. Methods In this retrospective cohort study, post-natal clinical factors of all NB diagnosed with CDH were reviewed in an 11-year period (2007‒2018). The primary outcome was death. Secondary outcomes included clinical features, prognostic indexes, type of mechanical ventilation, complications during hospitalization and surgical repair. Results After applying the exclusion criteria, the authors analyzed 137 charts. Overall mortality was 59% (81/137), and the highest rates were observed for low-birth-weight NB (87%), syndromic phenotype (92%), and those with major malformations (100%). Prognostic indexes such as Apgar, SNAPPE-II and 24hOI (best oxygenation index in 24 hours) were all associated with poor evolution. In a multivariate analysis, only birth weight and 24hOI were statistically significant risk factors for mortality, with a reduction in mortality risk of 17.1% (OR = 0.829, 95% IC 0.72‒0.955, p = 0.009) for each additional 100g at birth and an increase by 26.5% (OR = 1.265, 95% IC 1.113‒1.436, p = 0.0003) for each unitary increase at the 24hOI. Conclusion Prognostic indexes are an important tool for predicting outcomes and improving resource allocation. Post-natal risk factors may be more suitable for settings where antenatal diagnosis is not universal. Classical risk factors, such as prematurity, low birth weight, higher need for supportive care, and poorer prognostic indexes were associated with mortality in our CDH population.

Hernia diafragmática congénita posterolateral derecha sin herniación hepática: presentación de caso con tratamiento exitoso / Right posterolateral congenital diaphragmatic hernia without liver herniation: presentation of a case with successful treatment

Resumen La hernia diafragmática congénita es un defecto en la formación del diafragma con una alta mortalidad y morbilidad para el recién nacido. La ubicación en el lado derecho corresponde a solo el 10% de todos los casos y se asocia con una menor supervivencia, especialmente cuando hay una herniación hepática. No se conoce con precisión el porcentaje de casos de hernia diafragmática congénita derecha que no implican una herniación hepática. Aun no hay certeza del tiempo estimado para obtener el mayor beneficio de la corrección quirúrgica, en nuestro caso realizado con éxito a los 2 días de vida, logrando previamente una adecuada estabilidad hemodinámica y ventilatoria. El manejo perioperatorio en unidad de cuidado intensivo neonatal, es fundamental para reducir la morbimortalidad asociada. Se presenta un caso de hernia diafragmática congénita derecha tratado con éxito y se exponen los aspectos más relevantes del manejo médico-quirúrgico de esta patología. MÉD.UIS.2021;34(3): 71-7.

Abstract Congenital diaphragmatic hernia is a congenital defect in the formation of the diaphragm with high mortality and morbidity for the newborn. The location on the right side corresponds to only 10% of all cases and is associated with a lower survival, especially when there is a liver herniation. The percentage of cases of right congenital diaphragmatic hernia that do not involve liver herniation is not known with precision. An estimated time to obtain the greatest benefit from surgical correction is not known with certainty, in our case it was carried out successfully at 2 days of life, previously achieving adequate hemodynamic and ventilatory stability. Perioperative management in the neonatal intensive care unit is essential to reduce the associated morbidity and mortality. A case of congenital right diaphragmatic hernia treated successfully is presented and the most relevant aspects of the medical-surgical management of this pathology are exposed. MÉD. UIS.2021;34(3): 71-7.

A rare case of congenital diaphragmatic hernia in adult: an incidental finding during an elective procedure

Congenital diaphragmatic hernia consists of a defect of the diaphragm that allows the passage of abdominal viscera into the thorax. Congenital diaphragmatic hernia most commonly present in infancy and childhood due to respiratory distress. However, a few of them may escape into adulthood. A very few of these adult cases may be identified during a routine medical checkup for various other reasons without any cardio-respiratory problems. In our case report, we have diagnosed incidentally an asymptomatic left diaphragmatic hernia with cardio-mediastinal shifting in a 38 years old female admitted for left breast fibroadenoma excision during a routine pre-anesthetic check-up and underwent breast surgery without any cardio-respiratory problems.

A rare clinical entity of asymptomatic adult bochdalek hernia

Bochdalek hernia (BH) is the commonest congenital diaphragmatic hernia, caused by the failure of the posterolateral diaphragmatic foramina to fuse properly. It is extremely rare in adults and accounts for 5-10%. Presenting a case of 48 years female with complaints of dry cough and left chest pain for 1 week. Diminished breath sounds and abnormal gurgling sounds heard on auscultation of left chest wall. X-ray chest showed elevated left hemi diaphragm and gastric bubble. Computed tomography (CT) chest revealed left diaphragmatic hernia with splenic flexure, transverse colon, mesocolon, spleen and upper pole of left kidney as content and atelectasis of left lung lower lobe. Patient underwent laparoscopic repair of hernia with mesh plasty. Intraoperatively, the contents were reduced into the abdominal cavity and left lung expansion noted. The defect of size 6×10 cm in the left diaphragm was sutured and composite mesh placed. Post-operative chest x-ray showed expanded left lung. On follow up of patient after 2 weeks and 1 month, patient was asymptomatic. BH in adults is an uncommon. The contents can be reduced via thoracic or abdominal approach, with abdominal approach having easier access. With the advent of minimal access techniques, delineating clear anatomy, more working space, early recovery, and early return to home and work is possible. Thus, laparoscopic repair of adult diaphragmatic hernia is a safe and effective modality of surgical treatment.

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.

Morgagni-Larrey parasternal diaphragmatic hernia masquerading as pleural effusion: an interesting presentation with review of literature

Congenital diaphragmatic hernia (CDH) is a major malformation found in newborns and babies but rarely in adults. CDH is defined by the presence of a defect in the diaphragm, which permits the herniation of abdominal contents into the thorax. The diagnosis of CDH is based on clinical history, examinations and is confirmed by plain X-ray films and computed tomography scans. Here we report a case which was misdiagnosed at another centre as pleural effusion and managed by placement of intercostal tube drainage and later on diagnosed to be case of Morgnani-Larrey parasternal diaphragmatic hernia. Congenital diaphragmatic hernia (CDH) is a major malformation found in newborns and babies but rarely in adults. CDH is defined by the presence of a defect in the diaphragm, which permits the herniation of abdominal contents into the thorax. The diagnosis of CDH is based on clinical history, examinations and is confirmed by plain X-ray films and computed tomography scans. The purpose of reporting this case is to provide information on late-presenting CDH and to emphasize that a high index of suspicion is required for diagnosis and to avoid unwanted complications.

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.

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

Evaluation of long term outcome of congenital diaphragmatic hernia survivors: a single centre 8 years’ experience in a developing nation with limited facilities

Background: The objective of the study was to find out incidence of long term complications in congenital diaphragmatic hernia (CDH) survivors in a developing nation with limited facilities.Methods: A retrospective study was done on patients who underwent CDH repair at our institution from 2012 to 2019. 71 patients were identified of these 55 patients operated in neonatal age were considered. After applying exclusion criteria 42 patients included in the study were then divided in 2 groups. Group 1 (26 patients): neonates requiring ventilation within 6 hrs of birth and group 2 (16 patients): not requiring ventilation or intubated after 6hrs of birth. Data from medical records were supplemented by a questionnaire regarding perceived physical function and medical follow up till date. Respiratory, central nervous, musculoskeletal and gastrointestinal systems were concentrated upon and questionnaire set. These were then compared with respect to their long term outcomes. Also, overall incidence of these in the two groups combined was noted compared with other studies.Results: On comparing these 2 groups incidence of long term complications was found more in group 1; however on statistical analysis difference was not significant. As also incidence of individual long term complications in all patients together were identical or lower than in other published series. Mortality in our study was 8 of 49 neonates which was 17% of all patients presenting with CDH or born at our centre.Conclusions: Despite the growing population of CDH survivors the morbidity is not very significant and most patients lead a normal average active life.

Atypical presentation of congenital diaphragmatic hernia: case report

The Congenital diaphragmatic hernia generally presents with severe respiratory distress in the neonatal period and usually occurs once in every 2,000-3500 births. Late-presenting congenital diaphragmatic hernia (CDH) has been defined as CDH diagnosed after the neonatal period due to initial symptoms after the neonatal period or asymptomatic CDH found in the course of routine X-ray examination of the chest beyond the neonatal period. When late presentations occur, patients may be asymptomatic or may be critically ill with unusual respiratory and gastrointestinal symptoms. Case characteristics: 3yrs old female child presented with history of pain abdomen, abdominal distension, vomiting, respiratory distress and fever since 5days. Chest tube was inserted in view of left sided pleural effusion. Later on, diagnosed with diaphragmatic hernia. Outcome Child was operated, and diaphragmatic repair done and was discharged successfully after 38 days. Message: Congenital diaphragmatic hernia should be considered in the differential diagnosis of any child with unusual respiratory or gastrointestinal symptoms and abnormal chest radiographic findings.

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.

RIGHT SIDED CONGENITAL DIAPHRAGMATIC HERNIA OF MORGAGNI TYPE IN ADULTS: A RARE ENTITY

@#Congenital diaphragmatic hernia (CDH) is an anomaly of infants. It is associated with other anomalies, including pulmonary hypoplasia, malrotation of the gut and patent ductus arteriosus (PDA). Hence it is essential that it is diagnosed early. Sometimes, it can remain unrecognized till adulthood, if no other associated developmental anomalies, like pulmonary hypoplasia, occur. In adults, it is diagnosed when intestinal contents herniate into the thorax causing pulmonary and intestinal complications. It is mostly present on the left side because of late fusion of the pleuro-peritoneal membranes, and the absence of the liver on the left side. Moreover, it is commonly due to trauma in adults. A case report of a right sided diaphragmatic hernia of Morgagni type in an adult was discussed

Current concept in surgical timing and prognostic indicators of neonates with congenital diaphragmatic hernia / 中国小儿急救医学

Congenital diaphragmatic hernia( CDH) is a severe birth defect characterized by hernia-tion of abdominal viscera into thoracic cavity caused by a defect of the diaphragm. It presents with a wide range of severity,which mostly depends on degrees of pulmonary hypertension and pulmonary hypoplasia. The neonatal and surgical management of infants with CDH has evolved over years,and the practice of dela-ying surgery until patients achieve clinical stability is widely accepted. However,there is still little consensus on optimal timing of repair for the most severe CDH patients or who requires extracorporeal membrane oxy-genation. Numerous prenatal and postnatal factors may affect the prognosis in neonates with CDH, such as lung to head ratio,liver position,blood gases,echocardiographic indicators,clinical scoring system shortly af-ter birth. Stratifying the CDH infant population into high-and low-risk for mortality may help to develop tar-geted management strategies based on severity,and thus improve outcomes.

Respiratory Severity Score as a Predictive Factor for the Mortality of Congenital Diaphragmatic Hernia

PURPOSE: Congenital diaphragmatic hernia (CDH) is rare but potentially fatal. The overall outcome is highly variable. This study aimed to identify a simple and dynamic parameter that helps predict the mortality of CDH patients in real time, without invasive tests. METHODS: We conducted a retrospective chart review of 59 CDH cases. Maternal and fetal information included the gestational age at diagnosis, site of defect, presence of liver herniation, and lung-to-head ratio (LHR) at 20 to 29 weeks of gestational age. Information regarding postnatal treatment, including the number of days until surgery, the need for inhaled nitric oxide (iNO), the need for extracorporeal membrane oxygenation (ECMO), and survival, was collected. The highest respiratory severity score (RSS) within 24 hours after birth was also calculated. RESULTS: Statistical analysis showed that a younger gestational age at the initial diagnosis (P < 0.001), a lower LHR (P=0.001), and the presence of liver herniation (P=0.003) were prenatal risk factors for CDH mortality. The RSS and use of iNO and ECMO were significant factors affecting survival. In the multivariate analysis, the only remaining significant risk factor was the highest preoperative RSS within 24 hours after birth (P=0.002). The area under the receiver operating characteristic curve was 0.9375, with a sensitivity of 91.67% and specificity of 83.87% at the RSS cut-off value of 5.2. The positive and negative predictive values were 82.14% and 92.86%, respectively. CONCLUSION: Using the RSS as a prognostic predictor with simple calculations will help clinicians plan CDH management.