Congenital lung lesions.

Diagnosis and management of congenital lung malformations has evolved dramatically over the past several decades. Advancement in imaging technology has enabled earlier, more definitive diagnoses and, consequently, more timely intervention in utero or after birth, when indicated. These advancements have increased overall survival rates to around 95% from historical rates of 60%. However, further refinement of diagnostic technique and standardization of treatment is needed, particularly as the increased sensitivity of diagnostic imaging results in more frequent diagnoses. In this article, we provide an updated review of the diagnostic strategies, management, and prognosis of congenital lung malformations.

Endobronchial Ultrasound-guided Aspiration of an Endotracheal Bronchogenic Cyst: Case Report and Systematic Review of the Literature.

The most common location of bronchogenic cysts is the mediastinum, adjacent to the major airways. Endotracheal bronchogenic cysts are rare and most present in infancy with respiratory failure. Although surgical resection has remained the treatment of choice, there is increasing interest in the management of these cysts with therapeutic aspiration alone. In this article, we describe a 68-year-old man with endotracheal bronchogenic cyst who was managed with endobronchial ultrasound-guided needle aspiration. We also systematically review the literature for reports of endotracheal bronchogenic cysts. The review identified 9 reports (10 patients) with endotracheal bronchogenic cysts. The most common age at presentation was infancy (n=8) and surgical resection was the most common treatment modality used (n=7).

[ASYMPTOMATIC ADULT RETROGASTRIC BRONCHOGENIC CYST: DIAGNOSIS AND TREATMENT CONSIDERATION BY ENDOSCOPIC ULTRASOUND FINE NEEDLE ASPIRATION (EUS-FNA)].

BACKGROUND: Adult bronchogenic cysts are rare. Retrogastric bronchogenic cysts are even rarer with only over 30 cases being reported in the English literature. These foregut cysts can be confused with cystic tumors. CASE PRESENTATION: We describe the case of a large gastric bronchogenic cyst in an asymptomatic 61-year-old woman who underwent an abdominal computerized tomography as part of a routine follow-up after lumpectomy due to breast cancer. Final diagnosis was made by endoscopic ultrasound fine needle aspiration (EUS-FNA) which led to conservative management of the patient who has remained asymptomatic over the last 8 years. CONCLUSIONS: Preoperative diagnosis of adult gastric bronchogenic cyst has been difficult to achieve. Our case highlights the importance of EUS in establishing the definitive diagnosis, enabling just follow-up with repeated imaging studies. The relevant literature is discussed.

Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement.

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein. METHODS: We reviewed currently published literature on the main characteristics of BHDS. RESULTS: Pulmonary cysts and spontaneous pneumothorax are often the presenting manifestations that lead to a final diagnosis in family members affected by the syndrome. CONCLUSIONS: Certain imaging characteristics of pulmonary cysts, including size and location, can suggest the diagnosis of BHDS based on chest computed tomography alone. The main concern in patients with BHDS is the increased risk of renal carcinoma. The aim of this review is to describe the main pathological, clinical, and imaging aspects of BHDS, ranging from its genetic basis to treatment, with emphasis on pulmonary involvement.

Congenital cystic lesions of the lung.

Congenital cystic lesions of the lung are present in 1 in 10,000-35,000 births and present as a spectrum of anomalies. Majority of these cystic lesions comprise congenital cystic adenomatoid malformations, pulmonary sequestrations, congenital lobar emphysema, and bronchogenic cysts. Most of these lesions are nowadays detected antenatally, however some will present either in the newborn or during later childhood. A review of the aetiology, classification, natural history, investigations, and treatment of congenital cystic lung lesions is discussed.

Atypical lung parenchymal bronchogenic cyst complicated by tuberculosis infection.

A bronchogenic cyst (BC) is a rare congenital lesion that may cause life-threatening organ compression in children, but is generally asymptomatic in adults unless there are other complications. In the present report, a 34-year-old woman in whom a BC was complicated by tuberculosis infection is described. Due to the small size of the BC, it was asymptomatic and could not be diagnosed until she was treated with antituberculosis medications.

Infected mediastinal bronchogenic cyst in a 12 year old girl.

Bronchogenic cysts are an uncommon congenital malformation deriving from the primitive foregut. They are mainly unilocular, and respiratory distress is the most common presentation in pediatric patients. We describe the case of a 12-year-old girl with a huge infected mediastinal bronchogenic cyst which was resected via an axillary muscle-sparing thoracotomy.

Bronchogenic cyst and pharyngeal fistular in an 81 year old female: A case report.

Bronchogenic cyst is a rare clinical; entity that occurs due to an anomalous development of the ventral foregut; they are usually single but may be multiple and can be filled with fluid or mucus. They have been found all along the transoesophageal course, in perihilar or intraparenchymal sites, with predilection for the area around the carina. The location of the cyst depends on the embryonic stage of development at which the anomaly occurs. When the abnormal budding occurs during the early development, the cyst tends to be located along the tracheobronchial tree. The cysts that develop later during the late development are more peripheral and may be located within the lung parenchyma. Bronchogenic cysts have also been described in more remote locations, including neck, interatrial septum, abdomen, and retroperitoneal space. Past reports emphasised that a bronchogenic cyst is usually asymptomatic and presents as an incidental finding, but more recent reports suggest that the majority of adults with bronchogenic cysts ultimately become symptomatic. The actual natural history and percentage of asymptomatic bronchogenic cyst in adults are not known because of the absence of long-term follow up of a large group of patients with asymptomatic cyst. Symptomatic patients usually present with symptomatic related to cyst infection or compression of adjacent structures. Presentation in the elderly population is quite rare. It has been reported that approximately 0.6% of such cyst are noted in patients above the age of 60 years. Total documented cases of patients presenting after the age of 70 years have been noted to be only 8 in 2002.

Should asymptomatic bronchogenic cysts in adults be treated conservatively or with surgery?

A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was whether asymptomatic bronchogenic cysts in adults require surgery or whether they can be adequately managed with conservative treatment or observation only. Altogether more than 310 papers were found using the reported search of which 23 represented the best evidence to answer the clinical question. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes and results of these papers are tabulated. The papers identified included 683 adult patients with bronchogenic cysts. There was a substantial variation between the papers in the proportion of patients presenting with symptoms (6-79%), and all patients with symptoms were managed surgically. The majority of asymptomatic patients underwent empirical surgery to prevent the development of symptoms, to confirm the diagnosis and to rule out malignant transformation. A total of 74 asymptomatic patients were treated conservatively or had definitive diagnosis or treatment delayed. The longest period of observation was 22 years. In total, 33 (45%) of asymptomatic patients eventually developed symptoms requiring surgery. There was no evidence to suggest that surgery following a cyst-related complication increased the postoperative morbidity or mortality, although it was noted to increase the technical difficulty of the procedure. There were no descriptions of misdiagnosis of malignancy as bronchogenic cyst, but 5 (0.7%) of the 683 cysts studied were found to be associated with malignant cells in the cyst wall. The figures cited, however, represent only symptomatic or incidental presentations. As the prevalence of these otherwise benign entities is not known, the rates of progression to symptoms and associated malignancy may be lower than those described. We would advocate informing asymptomatic patients diagnosed with bronchogenic cyst of the 20% morbidity of surgery whether immediate or delayed, the 45% risk of developing symptoms, some of which may be serious, and the 0.7% risk of malignancy. Should patients opt for conservative management, this can be offered only if close long-term follow-up can be guaranteed.

Congenital lung lesions--underlying molecular mechanisms.

Congenital lung lesions comprise a broad spectrum of rare but clinically significant developmental abnormalities, including congenital cystic adenomatoid malformation, bronchopulmonary sequestrations, congenital lobar emphysema, and bronchogenic cysts, which are commonly surgically treated. Although the terms congenital cystic adenomatoid malformation, bronchopulmonary sequestrations, congenital lobar emphysema, and bronchogenic cysts are entrenched in clinical usage and comfortably correspond to rigid pathologic definitions, there is a considerable overlap in the findings. Disregarding the controversy about lesion nomenclature and classification, it is widely accepted that congenital lung lesions result from perturbations in lung and airway embryogenesis. It is generally accepted that both place (level in the tracheobronchial tree) and timing (gestational age) of the embryologic insult correlates with the type of lesion and histopathology that is manifested. The objective of this review is to briefly review normal lung development and to analyze the known molecular mechanisms underlying those diseases.

CT-guided percutaneous large-needle aspiration and bleomycin sclerotherapy for bronchogenic cyst: report of four cases.

PURPOSE: Fine needle aspiration alone has been used as a treatment for bronchogenic cysts, but is subject to a high rate of recurrence. The purpose of this study was to review our experience with computed tomography (CT)-guided percutaneous large-needle aspiration and bleomycin sclerotherapy of bronchogenic cysts in four patients. MATERIALS AND METHODS: Four patients with bronchogenic cysts at subcarinal (n = 1), paraspinal (n = 1), or intrapulmonary (n = 2) sites were treated at two medical centers with percutaneous transthoracic aspiration with a 17.5-gauge needle and sclerotherapy with use of bleomycin as the sclerosant agent. Clinical symptoms were seen in three of the four patients: recurrent cough in two and recurrent chest discomfort and palpitation in one. CT was used to guide the procedures. After sclerotherapy, the sizes of ablated cysts were followed by CT. RESULTS: At a median follow-up of 10 months (range, 6-14 months), all three patients with symptoms had symptomatic relief and all four patients showed a nearly complete regression of bronchogenic cyst on follow-up CT. No recurrence was encountered. Minor complications included a small asymptomatic pneumothorax at the end of the procedure in one patient and a mild fever (38.0 degrees C-38.5 degrees C) on the first day after sclerotherapy in one patient, which resolved spontaneously without treatment. No major complications occurred. CONCLUSIONS: CT-guided percutaneous treatment of bronchogenic cysts with large-needle aspiration and bleomycin sclerotherapy was safe and effective in this limited series. Further investigation of this technique is warranted.

Mediastinal tumors and cysts in the pediatric population.

Pediatric mediastinal tumors and cysts are rare disorders that share many similarities with adults, yet which have important differences unique to the child. Posterior mediastinal tumors are relatively more common in children than in adults and are also more likely to be malignant in children. CT imaging facilitates the diagnostic evaluation of mediastinal masses in children. Airway compression is always a concern with large mediastinal tumors in children given their relative softer and smaller airway.