Right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus

Pulmonary aplasia and bronchopulmonary foregut malformations in which a patent communication between the foregut and the pulmonary system is present are rare congenital abnormalities. Pulmonary aplasia associated with a pulmonary sling is an even rarer abnormality. We report a unique case of right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus diagnosed by multidetector helical CT.     

Monozygotic twins concordant for tracheo-esophageal fistula and discordant for the VATER association

Monozygotic female twins were concordant for tracheo-esophageal fistula (TEF); and one twin also manifested other anomalies in the VATER association, including agenesis of the female reproductive tract. Review of the literature discloses a familial tendency for recurrence of TEF and a high concordance rate in monozygotic twins, indicating a significant genetic influence for the isolated anomaly. In the case of the VATER association, the sporadic occurrence of affected individuals and discordance in twins implicates the effect of non-genetic factors.     

Extralobar pulmonary sequestration presenting with torsion

The current report describes the case of a 13-year-old girl with an extralobar pulmonary sequestration who presented with chest and back pains without evidence of infection. Her symptoms were discovered to be secondary to torsion and infarction of the pulmonary sequestration. Although pulmonary sequestration is not an uncommon differential diagnosis for chest masses, it is rare for it to present in this manner.     

Intralobar pulmonary sequestration with congenital cystic adematous malformation and rhabdomyomatous dysplasia

Pulmonary sequestration and congenital cystic adenomatous malformations (CCAM) are well known but still uncommon anomalies of the lung. Extralobar sequestrations are well described in association with CCAM, but fewer intralobar lesions are found with this association. The existence of striated muscle within CCAM is described, and we have evidence of dysplastic changes within the various cellular components occurring, with rhabdomyomatous dysplasia being one of these. A literature review shows no previous evidence of a reported intralobar sequestration associated with CCAM and rhabdomyomatous dysplastic changes.     

Thyroglossal duct cyst accompanied by laryngomalacia and pulmonary sequestration

A 2‐month‐old full‐term female infant developed nasal stridor, which progressed to respiratory distress and poor sucking ability. Direct pharyngoscopy showed laryngomalacia and a midline cystic mass in the lingual region. The mass pressed on the epiglottis, causing dyspnea. Computed tomography incidentally revealed extralobar pulmonary sequestration. Direct deroofing of the lingual cyst and plication of the epiglottis were performed at 3 months of age, and the patient recovered from the respiratory distress. Histopathology of the cystic mass showed a thyroglossal duct cyst. Thoracoscopic resection of the pulmonary sequestration was then done at 17 months of age. Thyroglossal duct cysts in the lingual region may cause destabilization of the epiglottis and laryngomalacia, resulting in acquired respiratory obstruction. The combination of thyroglossal duct cyst, laryngomalacia, and pulmonary sequestration is rare; therefore, reports must be accumulated in order to explore the embryological origins of such cases.     

Vesico‐amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association

Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico‐amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks’ gestation. Although fetal karyotype was normal 46XY, follow‐up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney. MRI at 31 weeks’ gestation suggested lobar type holoprosencephaly. Diagnosis of VACTERL association was confirmed postnatally. We consider that vesico‐amniotic shunting is indicated for a fetus of VACTERL association with LUTO if the parents wish the procedure after genetic counseling and explanations about the fetal conditions.     

Neonatological and pulmonological management of bilateral pulmonary sequestration in a neonate

Background  Bronchopulmonary sequestration is a lung malformation characterized by nonfunctioning lung tissue without primary communication with the tracheobronchial tree. Intrauterine complications such as mediastinal shift, pleural effusion or fetal hydrothorax can be present. We present the case of a newborn with bilateral intralobar pulmonary sequestration. Methods  Prenatal ultrasonography in a primigravida at 20 weeks of gestation revealed echogenic masses in the right fetal hemithorax with mediastinal shift towards the left side. Serial ultrasound confirmed persistence of the lesion with otherwise appropriate fetal development. Delivery was uneventful and physical examination revealed an isolated intermittent tachypnea. Chest CT scan and CT angiography showed a bilateral intrathoracic lesion with arterial supply from the aorta. Baby lung function testing suggested possible multiple functional compartments. Results  Right and left thoracotomy was performed at the age of 7 months. A bilateral intralobar sequestration with vascularisation from the aorta was resected. Pathological and histological examination of the resected tissue confirmed the surgical diagnosis. At the age of 24 months, the child was doing well without pulmonary complications. Conclusions  Bilateral pulmonary sequestration requires intensive prenatal and postnatal surveillance. Though given the fact of a bilateral pulmonary sequestration, postnatal outcome showed similar favourable characteristics to an unilateral presentation. Baby lung function testing could provide additional information for optimal postnatal management and timing of surgical intervention.     

Pre- and postnatal treatment of a pulmonary sequestration presenting as a unilateral hydrothorax

We report a case of a neonatal sequestration diagnosed antenatally as a progressive left hydrothorax when ultrasound (US) was done at 30 weeks' gestation for polyhydramnios. Postnatal US and computed tomography failed to demonstrate any lesion; magnetic resonance imaging showed a spherical mass in the left chest adjacent to the left lower lobe. At the age of 4 weeks a thoracotomy was performed and the mass was excised. Pulmonary sequestrations may present with a pleural effusion and polyhydramnios as a part of non-immune hydrops fetalis. In our case hydrops was prevented by insertion of a pleuro-amniotic shunt.     

Monozygotic twins concordant for idiopathic thrombocytopenic purpura and discordant for systemic lupus erythematosus and lupus nephritis

We report on identical twin sisters with systemic lupus erythematosus and lupus nephritis after initial presentation as idiopathic thrombocytopenic purpura. The patients had diverse clinical signs, symptoms and pathological findings of lupus nephritis. The changes in antinuclear antibodies and anti-double-stranded DNA antibodies were quite different. We conclude that even with an identical genetic background and the same environment, the expression of systemic lupus erythematosus and subsequent progression to lupus nephritis in twins was distinct, and antinuclear antibodies and anti-double-stranded DNA antibodies are helpful for clinical monitoring.     

VACTERL anomalies in patients with esophageal atresia: an updated delineation of the spectrum and review of the literature

The VACTERL complex refers to anomalies of the bony spinal column (V), atresias in the gastrointestinal tract (A), congenital heart lesions (C), tracheoesophageal defects (TE), renal and distal urinary tract anomalies (R) and limb lesions (L). The incidence of each of these components has not been precisely quantified in the recent literature and the full array of anomalies within each systemic class of the VACTERL complex has not been well described. Therefore, we reviewed our most recent 20-year experience of patients born with esophageal atresia to comprehensively delineate and accurately describe the type and incidence of associated lesions. A retrospective review was then conducted on all patients diagnosed with esophageal atresia between 1985 and 2005. Patient demographics recorded included gestational age, weight and gender. The specific types of lesions were carefully cataloged. The outcome measure recorded was survival. One hundred and twelve patients were diagnosed with esophageal atresia were identified during the study period. The gestational age range was 28-41 weeks with an average of 36.5 weeks. Average birth weight was 2,557 g (range 1,107-3,890). A male predominance was seen with 62 males and 50 females. The overall survival was 92.9%. The categorical breakdown of anomalies were vertebral (24.1%), atresia (14.3%), cardiac (32.1%), tracheoesophageal fistula (95.5%), urinary (17.0%), skeletal (16.1%) and other (10.8%). VACTERL anomalies are common in patients with esophageal atresia, however, they appear to have little impact on overall survival.     

Non-immune hydrops fetalis and bilateral pulmonary hypoplasia in a newborn infant with extralobar pulmonary sequestration

Extralobar pulmonary sequestration was found in a newborn premature infait that presented with non-immune hydrops fetalis, massive bilateral hydrothorax and polyhydramnios in utero. The baby died of severe respiratory insufficiency 15 h after birth. Postmortem examination revealed distended lymphatic vessels in the sequestered lung tissue probably due to impeded lymph drainage. We suggest that not extralobar pulmonary sequestration itself but a subsequent massive unilateral hydrothorax due to severe obstruction of lymph drainage was the cause of the non-immune hydrops fetalis, pulmonary hypoplasia and polyhydramnios. If these symptoms are diagnosed before delivery, a search for extralobar pulmonary sequestration is indicated.     

儿童肺动脉瓣狭窄介入治疗术并发症的防治

经皮球囊肺动脉瓣成形术已取代传统手术,成为肺动脉瓣狭窄首选治疗方法.虽然其临床疗效与安全性已得到公认,但仍存在不同程度的并发症,影响预后,甚至致死.该文就经皮球囊肺动脉瓣成形术术中与术后相关并发症的原因及防治措施进行综述.     

支气管肺发育不良的肺血管发育与肺动脉高压的诊断和治疗相关问题

肺动脉高压( PH)是支气管肺发育不良( BPD)的严重并发症,伴随着高病死率,肺血管发育的异常、肺血管的高反应性及结构的重建是导致PH的病理生理基础,本病临床症状隐匿,与本身肺部疾病难以鉴别,出现症状后诊断往往不可逆,建议具有高危因素的BPD患儿应常规进行筛查。心脏超声是无创、动态监测最常用的检查手段,对治疗效果不佳者行心导管或CT检查排除心血管异常,治疗包括急性阶段的综合治疗和降低肺动脉压力的药物选择,早期诊断、治疗将改善其预后。     

激光打孔球囊瓣膜成形术治疗肺动脉瓣闭锁伴室间隔完整患儿的研究

目的探讨激光打孔球囊瓣膜成形术治疗婴儿及新生儿肺动脉瓣闭锁伴室间隔完整的方法的可行性。方法１９９６年１月～１９９７年１０月，对７例肺动脉瓣闭锁伴室间隔完整的患儿行心导管术，并以直径为００１８英寸（０４６ｍｍ）激光导丝对闭锁的肺动脉瓣行激光打孔。导丝在已到达漏斗部的心导管的引导下至闭锁的肺动脉瓣。激光打孔后再以球囊扩张瓣膜。结果７例患儿，其中６例激光打孔球囊瓣膜成形术获得成功。在随访中，２例需行改良的ＢｌａｌｏｃｋＴａｕｓｉｎｇ分流术，以维持动脉血氧饱和度达８０％以上。球囊瓣膜成形术后，５例右心室发育获得改善，其三尖瓣环内径及漏斗部内径均较术前明显增加（Ｐ分别＜００５及０００５）。结论对患有肺动脉瓣闭锁伴室间隔完整的婴儿，激光打孔球囊瓣膜成形术是一可接受的非手术治疗方法     

A case of congenital agenesis of the right pulmonary artery presenting with hemoptysis and mimicking pulmonary hemosiderosis

Congenital unilateral absence of a pulmonary artery is a rare anomaly most frequently accompanied by other cardiovascular anomalies. We report a 10-year-old girl presenting with fatigue and recurrent hemoptysis who was initially misdiagnosed with idiopathic pulmonary hemosiderosis. Her symptoms did not resolve despite treatment so she was referred to our center for further evaluation. We carried out an angiography which revealed the absence of the right pulmonary artery and multiple collaterals originating from the right subclavian and right internal mammary arteries supplying the right lung. During the follow-up the patient developed a severe episode of pulmonary infection and pulmonary hypertension which responded well to medical treatment. Physicians should be aware of the congenital absence of the right pulmonary artery especially in patients presenting with recurrent respiratory symptoms. Although this condition is generally considered to have a good prognosis, close observation is mandatory in order to prevent further complications and comorbidities.     

伊曲康唑治疗儿童肺部真菌感染临床疗效及安全性观察

目的评价伊曲康唑注射液治疗儿童肺部真菌感染的有效性和安全性。方法以2004年5月~2005年10月武汉市儿童医院ICU病房13例确诊为肺部真菌感染患儿为研究对象,所有患儿在停用抗生素或改用窄谱抗生素、停用肾上腺皮质激素、加强对症和支持治疗基础上,给予伊曲康唑注射液治疗。治疗期间观察患儿临床症状体征变化,反复监测血、尿常规和肝、肾功能;反复取痰液标本作真菌学检查(涂片 培养);定期复查胸片;并记录药物不良反应。结果13例患儿中,治愈7例,有效4例,有效率为84.62%;6例出现轻度不良反应,经停药或对症支持治疗后均恢复正常。结论在我们治疗与观察的病例中,通过对伊曲康唑不良反应用药过程进行合理地预防干预,未见严重不良反应,且抗真菌疗效明显,说明伊曲康唑治疗儿童肺部真菌感染具有良好应用前景。     

鼻塞式呼吸机间歇指令通气联合肺表面活性物质治疗早产儿肺透明膜病的临床研究

目的 观察鼻塞式呼吸机间歇指令通气(NIMV)联合肺表面活性物质(PS)治疗早产儿肺透明膜病(NHMD)的临床疗效,并与常规机械通气及持续气道内正压通气(CPAP)的疗效进行比较.方法 NIMV组25例患肺透明膜病的早产儿经气管内滴入PS[100 mg/(kg·次)],然后拔管,予NIMV支持治疗,并与25例常规机械通气及24例CPAP的患儿进行比较,指标包括患儿的临床症状、体征、血气变化及并发症.结果 治疗后1 h,患儿症状体征明显好转;6、12及24 h,3组患儿的血气较治疗前显著改善,NIMV、常规机械通气及CPAP比较,差异无显著性(P＞0.05).但治疗过程中NIMV组的肺部感染及慢性肺疾病的发生率明显低于机械通气组[(8%vs 36%)、(20%vs 72%)],且NIMV组的反复呼吸暂停和二氧化碳潴留的发生率也明显低于常规CPAP组[(8%vs 36%)、(20%vs72%)].结论 应用NIMV治疗早产儿肺透明膜病既可减少或避免呼吸机相关性肺炎、慢性肺病等并发症,又可治疗早产儿常发生的反复呼吸暂停,避免二氧化碳潴留.     

Development of the coronary vasculature and its implications for coronary abnormalities in general and specifically in pulmonary atresia without ventricular septal defect

Aim : Coronary vascular anomalies are an important factor in congenital heart disease in the neonate. However, our knowledge of the pathomorphogenesis is still defective. Material and methods : 1) Study of coronary anomaly variations in congenital heart disease using specimens and 2) study of the role of epicardium-derived cells (EPDC) and neural crest cells in coronary vascular formation using quail-chicken chimeras. Results : The clinical and pathological data revealed the existence of ventriculo-coronary arterial communications during fetal life before pulmonary atresia was established. This supported a primary coronary developmental anomaly as the origin of some cases of pulmonary atresia as opposed to other cases in which the pulmonary orifice atresia was the primary anomaly. Our experimental work showed the high relevance of the development of the epicardium and epicardium-derived cells for the formation of the coronary vasculature, and showed the coronary vascular ingrowth into the myocardium and subsequently into the aorta and the right atrium. The absence of epicardium-derived cells leads to embryonic death, while delayed outgrowth could result in the absence of the main coronary arteries to pinpoint orifice formation. In these cases, the circulation was maintained through ventriculocoronary arterial communications. Neural crest cells were important for the patterning of the coronary vasculature. We have extended this knowledge to a number of other heart malformations.
Conclusions : Coronary vascular anomalies are highly linked to the development of extracardiac contributors like the epicardium and the neural crest. A proper interaction between these cell types and the myocardium and aortic arterial wall are important for normal vascular development.     

Tetralogy of Fallot with severe pulmonary valvar stenosis and pulmonary vascular sling (anomalous origin of the left pulmonary artery from the right pulmonary artery)

Summary A patient with the rare combination of tetralogy of Fallot with severe pulmonary valvar stenosis and pulmonary vascular sling is presented. The limitations imposed by pulmonary artery hypoplasia on the display of pulmonary vascular sling by conventional imaging techniques are discussed.