Congenital cystic adenomatoid malformation type 4.

A 9-day-old boy presented in respiratory distress and with failure to thrive. The chest X-ray showed a hyperlucent area of the left lung. A resection of the markedly emphysematous segment 2 of the left upper lobe was performed assuming the emphysematous tissue was due to congenital lobar emphysema (CLE). Histological examination of the lung tissue, however, revealed a pattern consistent with congenital cystic adenomatoid malformation (CCAM) type 4. The therapy for CLE as well as for CCAM is similar, i.e., resection of the emphysematous tissue. As far as the prognosis is concerned, it is important to diagnose the exact type of malformation in order to exclude associated anomalies, as well as the risk of development of malignancies in later life. The frequency of associated malformations of CCAM type 4 is unknown. Although the risk for development of malignancies from CCAM type 4 is not clear at the moment, the possible development of malignancies justifies prompt resection shortly after diagnosis, even in asymptomatic patients. A life-long follow-up in those patients who had a resection of CCAM in early childhood is recommended.     

Late presentation of congenital cystic adenomatoid malformation of lung in ten-year-old girl

Congenital cystic adenomatoid malformation of the lung (CCAML) is uncommon, and usually presents in children with respiratory distress. We describe a girl presenting with pneumonia at age 10 years. She had been previously healthy and active, and with no previous hospitalizations or X-rays. A chest CT scan showed right lower lobe cystic lesions suggestive of CCAML.     

Congenital cystic adenomatoid malformation of the lung in adults: clinical and CT evaluation of seven patients

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare congenital developmental abnormality that usually presents in childhood. Some associated malignancies have been reported. This study aimed to describe the clinical and multidetector CT (MDCT) image characteristics of CCAM of the lung in adults. Adult patients with congenital cystic lung diseases in association with surgery for CCAM were evaluated over a five and a half year period. Seven (four women, age range 17-64 years) of 109 congenital cystic lung disease patients were histologically confirmed as having CCAM. The most frequent symptom was productive cough (n = 5) and one patient was admitted with haemoptysis. The diagnosis was based on clinical and radiological findings and one patient was not diagnosed until surgery. MDCT images consisted of having a multiple loculated unilobar cystic mass in six patients and a cavitary mass in one and/or normal systemic arteries. The lesion was present in the right lung in four and in the left lung in three patients. The involved lobe was the upper in three, lower in three and middle lobe in one. Six patients underwent lobectomy and there was no associated malignancy or mortality. The mean length of hospital stay was 17.5 +/- 7.3 days. In adult patients who suffer from a recurrent productive cough and who have a multiloculated cystic mass in one lobe and normal vascular images in MDCT, CCAM, although rare, should be considered.     

Congenital cystic adenomatoid malformation of the lung: Hazards of delayed diagnosis

Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.     

Bronchioloalveolar carcinoma arising in congenital cystic adenomatoid malformation in a child: A case report and review on malignancies originating in congenital cystic adenomatoid malformation

A type I congenital cystic adenomatoid malformation (CCAM) in the left lower lobe was removed from a 11-year-old boy with a 3-month history of recurrent pneumonia. As incidental finding, a bronchioloalveolar carcinoma (BAC) was found in the lung parenchyma adjacent to the cyst. A left lower lobectomy was performed. At 18 months after surgery the patient is well and free of neoplastic disease. To the best of our knowledge, this association has not been reported previously in a pediatric patient. Malignancies complicating CCAM are rarely seen, but have been reported in adults. Including our case, eight cases of BAC and five cases of rhabdomyosarcoma (RMS) in association with CCAM have been reported so far. As CCAM can host metaplastic mucous cells, primitive mesenchymal cells and differentiated but poorly organized striated muscle fibers, it has been proposed that CCAM may act as a predisposing condition for oncogenesis. Our experience adds further support that CCAM can act as a premalignant lesion. Previous reports of both BAC and RMS in asymptomatic CCAM suggest prompt resection shortly after diagnosis. Pediatr. Pulmonol. 1998; 25:62–66. © 1998 Wiley-Liss, Inc.     

Application of ultrasound in a congenital cystic adenomatoid malformation in an adult: A case report

Introduction:Congenital cystic adenomatoid malformation (CCAM) is a rare developmental lung abnormality, that typically manifests in neonates and infants but rarely in adults. Ultrasound is an important method of diagnosing CCAM in neonates and infants; however, few articles have reported the value of transthoracic lung ultrasound in the diagnosis of CCAM in adults.Patient concerns:We present a case of a 34-year-old woman with a cavitary lesion in her left lower lobe, that suggested chronic inflammation.Diagnosis:The patient underwent ultrasound examination and contrast-enhanced ultrasound-guided transthoracic core biopsy; histology suggested the diagnosis of lung hamartoma. Surgical resection of the lesion followed by histopathological analysis confirmed the diagnosis of CCAM.Interventions:The patient underwent transthoracic core biopsy under contrast-enhanced ultrasound guidance. A left lower lobectomy was then performed subsequently.Outcomes:The patient had a smooth recovery and remained asymptomatic during the 12-months of postoperative follow-up.Conclusion:We report a rare case of CCAM to suggest that transthoracic ultrasound combined with contrast-enhanced ultrasound is a safe and effective method of diagnosing the subpleural lung malformations in adults, thereby avoiding multiple radiation exposures and associated complications.     

The glandular component in congenital cystic adenomatoid malformation of the lung

Although severe congenital cystic changes (CCC) of the lung may be fatal, less severe forms may regress or vanish spontaneously. With recent advances in sonography, asymptomatic CCC are increasingly found. Whether all CCC should be promptly excised, or not, is uncertain. Congenital cystic changes conceptually are bronchopulmonary foregut malformations (BPFM) with a predilection for malignant degeneration. Among all BPFM, congenital cystic adenomatoid malformation (CCAM) is most common. We therefore searched for evidence of early malignant transformation in five surgically excised and three autopsy lungs with CCAM. By light microscopy, CCAM resembled poorly formed and dilated bronchi, bronchioles and respiratory air spaces. Four lungs had multiple nodular aggregates of mucus producing cells; the glandular component (GC). By scanning electron microscopy, GC appeared as multiple micropolyps, resembling neuroepithelial bodies. By transmission electron microscopy, GC had a surface proliferation of cells with granules of the mucous type and a basal increase in cells with owl-eyed neuroendocrine granules. The glandular component in CCAM appeared similar to the mucous cells in hyperplastic polyps of the colon and a type of mucus producing bronchioloalveolar carcinoma. Our findings support the hypothesis that CCAM is caused by dysregulated paracrine growth of mature cells and extracellular matrices and that GC could have the potential for malignant transformation. Further clinical and laboratory studies of BPFM are needed for the appropriate management of congenital cystic changes.     

Association of three different congenital malformations in a same pulmonary lobe in a 5‐year‐old girl

We report the case of a 5‐year‐old girl with persistent chest X‐ray abnormalities following an episode of pneumonia who has a complex congenital pulmonary malformation comprising of a congenital pulmonary airway malformation, an intralobar sequestration and two bronchogenic cysts, all present within the same lobe. The observation suggests a common embryological origin of these malformations. Pediatr. Pulmonol. 2010; 45:832–835. © 2010 Wiley‐Liss, Inc.     

Congenital Cystic Lung Lesions: Is Surgical Resection Essential?

Can all congenital cystic lung lesions be treated conservatively, without the need for surgery? Our purpose here is to present the morbidity associated with symptomatic cystic lung lesions which have failed to respond to medical treatment. In the past 8 years, 22 consecutive cystic thoracic lesions were retrospectively assessed for clinical presentation, diagnostic modalities, operative findings, technical tribulations, and outcome. The endpoint was complete cessation of recurrent pneumonia and dysphagia. Age at presentation was 7.7 ± 2.2 years, with 4 ± 2 episodes per year of lower respiratory tract infection, which had been treated for the past 2.6 ± 0.3 years. Cough and dyspnea (100%) were the common symptoms, with episodes of cyanosis occurring in 58%. Other significant clinical presentations were dysphagia (55%), failure to thrive (55%), chest pain (46%), haemoptysis (18%), and pleuritic pain (18%). Definitive growth was seen in 91% of the excised specimens. Preoperative morbidity resulted from intractable pneumonia, dysphagia, and failure to thrive. Surgical excision was curative. All 22 children after resection are thriving, with an absence of pneumonia and dysphagia, with normal ventilation/perfusion scans, at 48 ± 6 months of follow‐up. In conclusion, surgical excision of a symptomatic cystic lung lesion that has not responded to medical treatment is recommended. Pediatr Pulmonol. © 2005 Wiley‐Liss, Inc.     

Successful endoscopic treatment of an esophageal duplication cyst

Duplication cysts of the gastrointestinal tract are rare, particularly in adults. Endoscopic minimally invasive treatment is still a challenging approach even in the endoscopically accessible sections of the gastrointestinal tract. In a 25-year-old patient suffering from dysphagia, an endoscopy and subsequent endosonography revealed a spherical duplication cyst in the lower third of the esophagus, which prompted us to puncture the cyst and subsequently to perform a fenestration (marsupialization; diameter 1 cm) in the anterior wall of the cyst, resulting in permanent drainage of the cystic fluid. Because of the recurrent complaints of the patient after 6 weeks, the anterior wall of the duplication cyst, the former esophageal wall, was partially resected, resulting in a permanent 4-cm opening including the cystic cavity into the esophageal lumen. Thereafter, there were no further complaints from the patient and the findings in the follow-up endoscopy were normal. A successful endoscopic intervention for this type of gastrointestinal duplication cyst is described for the first time. The minimally invasive resection of the anterior wall of the esophageal duplication cyst, simultaneously with the former regular wall at this segment of the esophagus, resulted in permanent inclusion of the cystic cavity into the esophageal lumen with no disadvantageous passage of fluid and food through the lower esophagus or changes in the former cystic epithelium. This method is considered to be feasible and a reasonable treatment alternative to the more invasive surgical approach.     

Congenital lung disease: a plea for clear thinking and clear nomenclature

Antenatal ultrasound has allowed the discovery of abnormalities which in the past often escaped detection. It may be unclear what advice to offer. Many large lung malformations seen at the routine 20-weeks gestation scan have largely disappeared at term. There is now even more confusion in terms of how these malformations should be described. The nomenclature of congenital lung disease was never very clear, with terms such as sequestrated segment, cystic adenomatoid malformation, hypoplastic lung, and malinosculation being used to describe often overlapping abnormalities. However, today these terms are used inconsistently in the ante- and postnatal periods. For example, congenital cystic adenomatoid malformation (CCAM) is used prenatally to describe a lesion which may well disappear before birth, but is used postnatally to describe an abnormality which may require lobectomy. CCAM may have a pulmonary arterial supply, or be supplied like a sequestration from the aorta, and histological features of both lesions may coexist. Thus, a complete reappraisal of the nomenclature of congenital lung disease is timely; this review does not discuss treatment options.     

Yellow nail syndrome and bilateral cystic lung disease

In patients with yellow nail syndrome (YNS), highly characteristic nail changes are often associated with lymphedema and respiratory disorders due to pleural effusions or bronchiectasis. We describe a 4-year-old girl with the YNS who also had cystic lesions of the lung, affecting first the left lower lobe and, after surgical resection of the involved segments, also the right lower lobe. We discuss the etiology of the pulmonary cysts and hypothesize that abnormalities in pulmonary lymphatic flow, characteristic of YNS, may have decreased lung tissue compliance and determined the unusual progression of the cystic lesions in this patient. Pediatr Pulmonol. 1998; 26:429–433. © 1998 Wiley-Liss, Inc.     

Type II congenital pulmonary airway malformation in an esophageal lung

A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.     

An infected esophageal duplication cyst in a patient with non-Hodgkin''s lymphoma mimicking persistent disease

Differentiation of mediastinal cysts appearing as soft-tissue attenuation masses on computed tomography (CT) scans from malignant mediastinal masses is difficult. We report a patient with non-Hodgkin's lymphoma, who was considered to have persistent disease in the posterior mediastinum based on CT scans. However, endoscopic ultrasound (EUS) demonstrated a paraesophageal, fluid-filled cyst with echodens inclusions and no evidence of any solid component. EUS-guided fine-needle aspiration (FNA) revealed mucous, epithelial and inflammatory cells, and additionally candida albicans was cultured. Based on these findings and constant size during follow-up, the diagnosis of an infected esophageal duplication cyst was made. Thus, this report further demonstrated the impact of EUS and EUS-FNA for management of posterior mediastinal cystic lesions in selected cases.     

Recurrent acute pancreatitis secondary to a duodenal duplication cyst in an adult. A case report and literature review

Duodenal duplication cysts are rare congenital abnormalities that are most commonly diagnosed in infancy and childhood. However, in rare cases, the lesion can remain asymptomatic until adulthood. An extremely rare case of a previously healthy adult patient with recurrent acute pancreatitis, who was diagnosed with a duodenal duplication cyst is presented. At laparotomy, a duplication cyst measuring 4.8 cm × 4 cm × 4 cm was found adjacent to the ampulla of Vater. A partial cyst excision and marsupialization into the duodenal lumen was performed. The patient is healthy and asymptomatic four years after surgery. The present case illustrates the necessity of considering a duodenal duplication cyst in the differential diagnosis of recurrent acute pancreatitis in previously healthy adults.     

Colonic duplication in an adult mimicking a tumor of pancreas

Duplications of the alimentary tract are uncommon congenital malformations that can present diagnostic difficulties. We report a rare case of a cystic colonic duplication in a female adult. Preoperative investigations were suggestive of pancreatic tumor. The diagnosis was established based on the histopathological examination of the resected specimen. We concluded that, though uncommon, intestinal duplication should be considered in differential diagnosis of abdominal mass.     

Overexpression of miR‐455‐5p affects retinol (vitamin A) absorption by downregulating STRA6 in a nitrofen‐induced CDH with lung hypoplasia rat model

Lung hypoplasia is the main cause of congenital diaphragmatic hernia (CDH)‐associated death but pathogenesis remains unclear. MiR‐455‐5p is involved in lung hypoplasia. We hypothesized that nitrofen causes abnormal miR‐455‐5p expression during lung development and designed this study to determine the relationship between miR‐455‐5p, stimulated by retinoic acid 6 (STRA6), and retinol in a nitrofen‐induced CDH with lung hypoplasia rat model. Nitrofen or olive oil was administered to Sprague‐Dawley rats by gavage on day 9.5 of gestation, and the rats were divided into a nitrofen group and a control group (n = 6). The left lung of fetuses was dissected on day 15.5. The expression of miR‐455‐5p or STRA6 messenger RNA (mRNA) was determined by quantitative real‐time polymerase chain reaction. Average integrated optical density (IOD) of STRA6 protein was determined by immunofluorescence histochemistry. The average retinol level was detected by enzyme‐linked immunosorbent assay (n = 6 lungs, respectively). Compared with the control group, the nitrofen group exhibited significantly increased miR‐455‐5p expression levels (29.450 ± 9.253 vs 5.955 ± 2.330; P = .00045) and significantly decreased STRA6 mRNA levels (0.197 ± 0.097 vs 0.588 ± 0.184; P = .0047). In addition, the average IOD of the STRA6 protein was significantly lower in the nitrofen group (805.643 ± 291.182 vs 1616.391 ± 572.308, P = .015), and the average retinol level was significantly reduced (4.013 ± 0.195 vs 5.317 ± 0.337 µg/L, P = .000). In summary, the overexpression of miR‐455‐5p affected retinol absorption by downregulating STRA6 in the nitrofen‐induced CDH with lung hypoplasia rat model, and this downregulation may be one cause of CDH with lung hypoplasia.