Agenesia unilateral de la arteria pulmonar: presentación de dos casos y revisión de la literatura / Unilateral agenesis pulmonary artery: presentation of two cases and review of the literature

Unilateral agenesis of the pulmonary artery is a rare malformation, sometimes asymptomatic and underdiagnosed. Right agenesis is usually isolated, while the left agenesis is more frequently associated with cardiovascular malformations. Some patients have recurrent respiratory infections, exercise limitation, hemoptysis, and/or pulmonary hypertension. The diagnosis is suspected by chest radiograph showing a hypoplastic lung ipsilateral to the agenesis. It is confirmed with contrast-enhanced chest computed tomography. In asymptomatic patients, management should be conservative, however, the search for collateral vessels should be started from adolescence, because they can bleed. In symptomatic patients or those with serious complications, the treatment must be interventional. The objective of this article is to present two patients with right and left pulmonary artery agenesis respectively and review the literature.

La agenesia unilateral de la arteria pulmonar es una malformación poco frecuente, en ocasiones asintomática y subdiagnosticada. La agenesia derecha suele ser aislada, en cambio la izquierda se asocia más frecuentemente a malformaciones cardiovasculares. Algunos pacientes presentan infecciones respiratorias recurrentes, limitación al ejercicio, hemoptisis y/o hipertensión pulmonar. El diagnóstico se sospecha al solicitar una radiografía de tórax que muestra un pulmón hipoplásico ipsilateral a la agenesia. Se confirma con tomografía computada de tórax con contraste. En pacientes asintomáticos el manejo debe ser conservador, sin embargo, se debe iniciar la búsqueda de vasos colaterales especialmente durante la adolescencia, los que pueden sangrar. En cambio, en los pacientes sintomáticos o que presentan complicaciones graves, el tratamiento debe ser intervencional. El objetivo de este trabajo es presentar a dos pacientes con agenesia de la arteria pulmonar derecha e izquierda respectivamente y hacer una revisión de la literatura.

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

Early application of noninvasive respiratory support benefits very low birth weight infant / 实用医学杂志

Objective Investigate the effects of early application of noninvasive respiratory support on very low birth weight infant(VLBWI). Method A total of 65 VLBWI(born during September 2015 to September 2016 with 28-32 weeks gestational age;1000 g ≤ birth weight < 1500 g;exclusion of combination with congenital deformity)were randomly divided into the early application of noninvasive respiratory support as observation group (n = 33) and the application of endotracheal intubation with gen respiratory support as control group (n = 32). Comparison of two groups was carried out by SPSS in terms of incidence of endotracheal intubation,BPD,pulmonary infection,pneumothorax,and necrotizing enterocolitis,together with rescue ratio,total oxygenation time and hospitalization. Results No significant difference was found on incidence of pneumothorax,necrotizing enterocolitis and rescue ratio between two groups. The incidence of endotracheal intubation,BPD,pulmonary infection and total oxygenation time was markly decreased in observation group. Conclusion Early application of noninvasive respiratory support benefits VLBWI via reducing incidence of endotracheal intubation,BPD,pulmonary infection, total oxygenation time.

Diagnosis and treatment of congenital diaphragmatic hernia / 中华实用儿科临床杂志

Congenital diaphragmatic hernia(CDH) is one of the critical congenital malformations disease which caused the defects of the diaphragmatic hernia,the hernia of the abdominal viscera into the thoracic cavity and the dysplasia of the lung because of the abnormal development of the embryo.The degree of pulmonary hypoplasia determined the curative effect of surgical treatment,so it is a key problem to improve the condition of pulmonary hypoplasia in treatment of CDH.Now it is feasible to make early prenatal diagnosis,predict outcomes and select the best operative opportunity of CDH with ultrasonography.It is a trend to treat CDH with endoscopic surgery of the minimally invasive operation.This article focuses on the latest diagnostics,treatment and new research progress of CDH,and summarized as follows.

Sindrome de Jeune: presentación de un caso clínico / Jeune syndrome: case report

El Síndrome de Jeune fue descrito en 1956 como Displasia Torácica Asfixiante (DTA). Su incidencia es de 1 por cada 100.000 recién nacidos vivos. En Venezuela el primer caso fue descrito por Urdaneta Carruyo en 1986. Forma parte de los síndromes con displasia/hipoplasia costal con/sin polidactilia. Es la insuficiencia respiratoria, por hipoplasia pulmonar, la causa más frecuente de muerte. En vista de ser un síndrome de presentación poco común con una alta mortalidad, se presenta un caso de una escolar de 11 años (diagnosticado desde los 10 meses), con tórax estrecho, braquimelia y rizomelia. Toracoplastia a los 9 años de edad en busca de una expansión torácica. Fallece a los 11 años de edad. Conclusiones: El síndrome de Jeune es una entidad poco frecuente que compromete la vida del paciente; tiene un patrón de herencia autosómica recesiva y requiere consejo genético a los padres y un equipo multidisciplinario para su abordaje y manejo.

Jeune Syndrome was described in 1956 as Thoracic dysplasia Asphyxiant (DTA). Its incidence is 1 per 100,000 live births. In Venezuela the first case was described by Urdaneta Carruyo in 1986. It is a member of the family of the short-rib polydactyly syndromes. Respiratory failure, secondary to pulmonary hypoplasia, it is the most common cause of death. Because DTA is a rare syndrome with a high mortality presentation, we were motivated to report the case of a 11 year old girl (diagnosed at 10 months of age), with a narrow thorax, and variable limb shortness. Thoracoplasty was performed at 9 years of age in order to achieve thoracic expansion. The patient died at 11 years of age. Conclusions: Jeune syndrome is a rare entity, which compromises the life of the patient; it has autosomal recessive inheritance pattern and requires genetic counseling to parents and a multidisciplinary management.

An Adult with Haemoptysis: A Rare Case of Congenital Anomaly.

A non-smoker adult male presented with haemoptysis of short duration. Chest radiograph (postero-anterior view) suggested an opaque left hemithorax. Further evaluation of lung lesion pointed towards a left lung hypoplasia with absent left pulmonary artery and a right-sided aortic arch (RAA). Both kidneys were enlarged with multiple cysts and thinning of parenchyma. This case describes a unique coexistence RAA and probable autosomal dominant polycystic kidney disease.

Malformaciones pulmonares congénitas / Congenital lung malformations

Congenital lung malformations (CLM) comprise a heterogeneous group of lung diseases. They vary widely in their clinical presentation and severity, depending on the degree of lung involvement and their location in the thoracic cavity. They can manifest at any age and can be the source of significant morbidity and mortality in infants and children. Patients with CLM can present respiratory symptoms at birth or can remain asymptomatic for long periods. There has been an increase in early diagnosis of CLM attributable to the routine use of prenatal ultrasound. Management of these lesions depends on the type of malformation and symptoms. Treatment of asymptomatic patients is controversial, because the prognosis of these diseases is unpredictable. Because of the risk of complications, most authors recommend resection of the lesion at the time of diagnosis. This review describes the principal CLM, their diagnosis, and the controversies regarding treatment.

Las malformaciones pulmonares congénitas (MPC) constituyen un grupo heterogéneo de enfermedades. Varían en su presentación clínica y gravedad en función al grado de afectación pulmonar y a su ubicación en tórax. Se pueden manifestar a cualquier edad y pueden condicionar morbilidad y mortalidad significativa en lactantes y niños. Los pacientes pueden presentar síntomas respiratorios desde el nacimiento o permanecer asintomáticos durante largos períodos. Se ha observado un aumento en el diagnóstico precoz de las MPC atribuible al uso rutinario de la ecografía prenatal. El manejo de estas lesiones depende del tipo de malformación y de los síntomas. El tratamiento de pacientes asintomáticos es controvertido debido a que el pronóstico de estas enfermedades es desconocido. La mayoría de los autores recomiendan la resección de la lesión en el momento del diagnóstico debido al riesgo de complicaciones. Esta revisión describe las principales malformaciones congénitas del pulmón, su diagnóstico y las estrategias de tratamiento.

A Rare Clinical Presentation of Primary Pulmonary Hypoplasia with Tuberculous Pleural Effusion.

Primary pulmonary hypoplasia is rare in adulthood. It is characterized by decreased number or size of bronchi, vessels and alveoli. We present a case of unilateral pulmonary hypoplasia in 44-old-year male smoker who presented with right pleural effusion. His chest X-ray revealed an inhomogenous opacity on the left side with bronchiectatic changes and right minimal pleural effusion. Fiberoptic bronchoscopy revealed blind end bronchi in left upper lobe and computed tomography pulmonary angiography revealed hypoplastic lung with cystic bronchiectasis on the left side and hypoplastic left pulmonary artery. It was not associated with any other congenital anomalies. In addition to symptomatic management, he was started on anti-tuberculous treatment for tuberculous pleural effusion and kept under follow-up.

Hemitórax opaco / Opaque hemithorax

Se presenta un paciente adulto de 58 años de edad, quien acudió a consulta por síntomas inespecíficos, relacionados con infección respiratoria, remitido desde el área de salud con una radiografía de tórax representativa de un hemitórax opaco que fue interpretada como neumonía lobar. Se realizaron diversas técnicas de imagen que incluyeron tomografía axial computarizada, angiografía pulmonar y angiotomografía que permitieron efectuar el diagnóstico diferencial de hemitórax opaco y definitivo de hipoplasia pulmonar, así como descartar anomalías asociadas. Los estudios imagenológicos permiten realizar el diagnóstico diferencial de hemitórax opaco y definitivo de hipoplasia pulmonar, así como las anomalías vasculares anexas, lo que posibilita tomar conducta y seguimiento médico adecuados.

A male 58-year-old patient presents with non-specific symptoms related to respiratory infection. The patient had been referred from his health area with a chest radiograph showing an opaque hemithorax which was interpreted as lobar pneumonia. Various imaging techniques were performed, including computerized axial tomography, pulmonary angiography and angiotomography, allowing to make the differential diagnosis of opaque hemithorax and the definitive diagnosis of pulmonary hypoplasia, and rule out associated anomalies. Imaging studies make it possible to make a differential diagnosis of opaque hemithorax and a definitive diagnosis of pulmonary hypoplasia, as well as related vascular anomalies, allowing the application of adequate clinical management and follow-up.

Left pulmonary artery agenesis with pulmonary hypoplasia in an elderly patient: a rare case report.

Proximal interruption of the unilateral pulmonary artery is a rare congenital anomaly, which is often associated with other cardiovascular abnormalities. It is usually diagnosed in children but rarely discovered in adulthood as an isolated phenomenon, occurring more frequently on the right side and is often associated with a contralateral aortic arch. We are presenting a rare case of a sixty year old male who was diagnosed with left lung hypoplasia due to proximal interruption of left pulmonary artery with left sided aortic arch without any associated cardiovascular anomalies.

Signo de la cimitarra / Scimitar sign

The scimitar sign refers to the image resembling a short, curved Turkish sword called scimitar, created by an anomalous pulmonary vein. It can be seen in chest radiography, computed tomography and magnetic resonance. It forms part of the scimitar syndrome, characterized by partial or total anomalous pulmonary venous drainage, associated with hypoplasia of the right lung and dextrocardia. Depending on the magnitude of the right-to-left shunt, it may present in children with pulmonary hypertension and right cardiac failure, or as asymptomatic imaging findings in adults.

El signo de la cimitarra es la imagen creada por una vena pulmonar anómala similar a una espada turca, corta y curva llamada cimitarra. Se puede ver en radiografía de tórax, tomografía computada y resonancia magnética. Forma parte del síndrome de la cimitarra, caracterizado por un drenaje pulmonar anómalo, parcial o total, asociado a hipoplasia del pulmón derecho y dextrocardia. Dependiendo de la magnitud del shunt de derecha a izquierda producido, se puede presentar en edades infantiles con hipertensión pulmonar y falla cardiaca derecha, o en adultos, de manera asintomática, como hallazgo imagenológico.

Antenatal Diagnosis of Bilateral Renal Agenesis with Potter’s Sequence: A Rare Case.

Bilateral renal agenesis is an uncommon prenatal diagnosis. It is a lethal anomaly with 50% of the fetuses being stillborn; the rest would die shortly after birth. It is also associated with many other congenital anomalies many of which have autosomal dominant or recessive inheritance. Absence of kidneys in renal fossae with pulmonary hypoplasia and oligohydramnios or anhydramnios strongly suggests the diagnosis of bilateral renal agenesis.

Persistent Pulmonary Hypertension of the Newborn in a Preterm Infant Exposed to Methotrexate During the Early Gestational Period / 대한주산의학회잡지

Methotrexate (MTX) is used in the reproductive aged females for the management of medical conditions such as ectopic pregnancy, autoimmune diseases and malignancies. Because of its antimetabolite effect, exposure to MTX during the fetal period can cause multiple anomalies. The most common anomalies related to intrauterine MTX exposure include growth retardation, craniofacial dysmorphism, central nervous system anomalies, cardiac anomalies and skeletal defects. We report a premature baby boy born after 27(+5) weeks of gestation who presented intrauterine growth restriction, single umbilical artery, small chest and anomalies of rib and thoracic vertebra. His mother had received 50 mg of MTX for the treatment of misdiagnosed ectopic pregnancy at 5th week of gestation. During the hospitalization, he was ventilator dependent and pulmonary hypertension persisted despite medical treatment including nitric oxide and sildenafil. Open lung biopsy revealed nonspecific findings suggestive of lung hypoplasia. He died at 141 days after birth due to respiratory failure.

Two Cases of Dry Lung Syndrome

Preterm infants with oligohydramnios after preterm premature rupture of membranes can present with severe respiratory distress immediately after birth, and the most common cause is pulmonary hypoplasia. Unlike infants with pulmonary hypoplasia, some cases have shown dramatic improvement with aggressive ventilatory support during the initial 1-2 days of distress; those patients have been defined as having dry lung syndrome. It is assumed that oligohydramnios leads to functional pulmonary hypoplasia by compression of the fetal lungs; some of the improvement in dry lung syndrome may thus have resulted from inflation of compressed lung tissue and increase of lung compliance. We report two incidences of dry lung syndrome that were treated successfully with high inflation pressure and inhaled nitric oxide (NO); these are the first dry lung syndrome cases to be reported in Korean infants.

Hernia diafragmática congénita o hernia de Morgagni: reporte de un caso / Congenital diaphragmatic hernia or Morgagni’s hernia: report of a case

La hernia diafragmática congénita es una anomalía que consiste en el desplazamiento, a través de un defecto en el diafragma, de los órganos abdominales hacia la cavidad toráxica. Dependiendo del sitio del diafragma en que ocurra este defecto las hernias diafragmáticas congénitas pueden ser: posterolaterales o de Bockdalek y paraesternales o de Morgagni. La embriogenesis del diafragma se produce entre la 7ma. y 10ma. semana de gestación; pero a veces una pequeña porción de fibras musculares, en el sitio donde atraviesa la arteria mamaria interna en la región retroesternal, tarda en desarrollarse7, y sino ocurre hasta la 10ma semana, el intestino que empieza a emigrar desde la cavidad celómica puede herniarse, deteniendo por compresión el desarrollo pulmonar con la aparición subsecuente de hipoplasia, esto es lo que se conoce como Hernia de Morgagni.

The congenital diaphragmatic hernia is an anomaly which implies a displacement of the abdominal organs to the thoracic cavity through a defect in the diaphragm. Depending on the place of the diaphragm where this defect occurs, the congenital diaphragmatic hernias can be: posterolateral or Bochdaleck’s hernia and parasternal or Morgagni’s hernia. The embryogenesis of the diaphragm emerges between the seventh and the tenth week of gestation; but sometimes a small portion of muscular fibers in the place where the internal mammary artery crosses the retrosternal region delay their development and if they do not develop until the tenth week, the intestine which starts to emigrate from the celomic cavity can herniate stopping by compression the pulmonary growth with the subsequence appearance of hypoplasia, and this is what we know as Morgagni Hernia.

Quiste pulmonar congénito gigante asociado a hipoplasia pulmonar: Presentación de un caso y revisión de la literatura / Congenital giant lung cyst associated with pulmonary hypoplasia: A case report and literature review

Los quistes congénitos del pulmón son un grupo diverso de anomalías que pueden ser únicos o múltiples y variar grandemente en su volumen. Por lo regular están confinados a un segmento o lóbulo y son asiento frecuente de infección. Se presenta el caso de un quiste broncogénico intrapulmonar gigante acompañado de hipoplasia de la arteria pulmonar izquierda y del lóbulo pulmonar superior ipsilateral. Se hacen consideraciones relacionadas con el origen del quiste, su relación con la hipoplasia arterial y pulmonar y se discuten las posibles causas de la atelectasia y edema posoperatorios, que llevaron a la necesidad de completar la neumonectomía ante un cuadro séptico severo(AU)

The congenital lung cysts are a group of diverse abnormalities, unique or multiple, and of different volumes. Generally, they are confined to a segment or lobe and they are a frequent site of infection. The case of a bronchogenic intrapulmonary giant cyst accompanied with hypoplasia of the left pulmonary artery and of the upper ipsilateral pulmonary lobe, is reported. Considerations are made on the origin of the cyst, and on its connection with arterial and pulmonary hypoplasia. The possible causes of postoperative atelactasis and edema, leading to the need of completing pneumonectomy in the face of a severe septic picture, are discussed(AU)

Vitamin A Effect to Nitrofen Induced Congenital Diaphragmatic Hernia and Pulmonary Hypoplasia in Rats

PURPOSE: Vitamin A has been introduced recently for its feasible effect in curing diaphragmatic defect and accelerating lung development during the perinatal period of experimental rats or humans suffering from congenital diaphragmatic hernia (CDH). Despite continual research attention since the fifties to elucidate the influence and mechanisms of vitamin A on pulmonary growth, many presumptive hypotheses remain, along with an inherently high mortality. So we wondered whether prenatal vitamin A alone or combined with dexamethasone could accomplish better results than dexamethasone against the diaphragmatic defect or lung hypoplasia in neonatal rats. METHODS: Pregnant Sprague-Dawley rats exposed to Nitrofen were classified into 5 groups according to the different treatment options. Studies were performd in 2 phases. In study 1, the 24-hour survival rate and preliminary results were observed. In study 2, the incidence and site of CDH, lung/body weight ratio (L/BWR), radial saccular counts (RSC) and maturation of alveolar sac in 3 histomorphologic grades were evaluated among the 5 groups. RESULTS: Vitamin A treated neonatal rats (group III) showed improved lung development compared with rats without treatments (group II) in 24-hour survival rate, L/BWR and alveolar maturation (P<0.001), leading to lung development that was comparable in every aspect to that of the dexamethasone treated rats (group IV). Combined treatment by vitamin A and dexamethasone (group V) improved the incidence of CDH, L/BWR (P<0.001), RSC (P<0.05) and alveolar maturation (P<0.001) when compared with rats treated alone by vitamin A (group III) or dexamethasone (group IV), leading to a level of development that was closest to that of the normal control lungs (group I). CONCLUSION: Vitamin A had a therapeutic effect on pulmonary hypoplasia in the experimental rats, and when combined with dexamethasone it accomplished a better outcome in the treatment of CDH itself or pulmonary hypoplasia. After the problem of vitamin A toxicity is settled, the future of vitamin A as a prenatal therapeutic agent for CDH might gain in appeal.

A Case of Trisomy 22 with Pulmonary Hypoplasia in a Liveborn Infant

We report a case of trisomy 22 in a liveborn male infant which was confirmed by fluorescence in situ hybridization(FISH), macrocultures and GTG-banding, and RHA-banding procedures of peripheral white blood cells. The infant showed lung hypoplasia, which is a unique presentation, with other clinical manifestations of previously reported cases of trisomy 22, such as intrauterine growth retardation, cleft palate, micrognathia, large atrial septal defect, limb anomalies, imperforate anus, and hypospadias. Our report gives weight to the previously reported observation that pulmonary hypoplasia may be associated in trisomy 22.

Two Cases of Unilateral developmental deficiency of lung found in Identical Twin / 대한내과학회지

Unilateral developmental deficiency of lung is rare. As the most of those, unilateral agenesis or Scimitar syndrome(hypogenetic lung syndrome) had been reported. We experienced that two cases of unilateral developmental deficiency of lung, which is different form each other, are found in identical twin. To our knowledge, this condition has not been reported before. We evaluated lung parenchyma and bronchus(; simple chest PA, chest CT(HRCT, 3DCT)), vasculatures(; pulmonary angiography and cardiac catheterization) and combined anomalies (;abdominal ultrasound, echocardiography, routine blood chemistry, and chromosomal study). This 31 yrs old twin female patient was confirmed as an unilateral agenesis of left upper lobe and hypoplasia of left lower lobe without combined anomalies. She's twin younger sister was confirmed as unilateral agenesis of right lung with atrial septal defect(ASD).

Exogenous pulmonary surfactant replacement therapy in a neonate with pulmonary hypoplasia accompanying congenital diaphragmatic hernia: a case report

Pulmonary hypoplasia(PH) commonly occurs in association with oligohydramnios and other congenital anomalies, especially congenital diaphragmatic hernia (CDH). Pulmonary hypoplasia is an important factor, as persistent pulmonary hypertension, in the prognosis of CDH. In some reports, there is a decrement of pulmonary surfactant in PH accompanying CDH. Recently, there are some reports that exogenous pulmonary surfactant therapy is effective in experimental animal model and neonatal respiratory distress with PH. We report a case of a 5 day-old male neonate, who had shown dyspnea and diagnosed as left pulmonary hypoplasia accompanying CDH. The CDH was surgically treated and the ipsilateral PH, with intratracheal administration of exogenous pulmonary surfactant postoperatively. After exogenous pulmonary surfactant application, the left lung volume was increased on chest roentgenogram and lung perfusion scan findings, and there was an improvement in oxygenation and clinical manifestations. We suggest that postoperative exogenous pulmonary surfactant replacement therapy is effective in the case of PH and further trials are needed to clarify the optimal dose and timing of supplementation of surfactant for treatment of infants with PH accompanying CDH.