Congenital cystic adenomatoid malformation in an adolescent: an unusual presentation with pleural effusion and pneumatocele

Congenital cystic adenomatoid malformation (CCAM) encompasses a continuum of hamartomatous cystic lung lesions characterised by the presence of abnormal bronchiolar structures of varying sizes or distribution. The CCAM is a disorder of infancy with majority of the cases being diagnosed within the first two years of life. We describe CCAM in a 13-year-old girl complaining of recurrent lower respiratory tract infections since infancy who presented with post-infectious pneumatocele with loculated pleural effusion, and suspected abscess formation and had undergone resection.     

Congenital cystic adenomatoid malformation of the lung resembling bronchiectasis in an adult

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare anomaly which is characterized by a proliferation of dilated bronchiolar-like air spaces. It is generally seen in newborns and infants. When seen in adults, which is more uncommon, it presents itself mostly with recurrent pulmonary infections. In this article, 31-year-old man with cough and purulent expectoration and a history of recurrent pulmonary infections who had cystic changes resembling bronchiectasis at the left lower lobe on the computed tomography of the chest and diagnosed CCAM-type 2 after the histopathological examination of the left lower lobectomy specimen is presented.     

Multiple bilateral pulmonary nodules revealing a congenital cystic adenomatoid malformation

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare congenital developmental abnormality, representing about 25% of all congenital lung lesions. It is very rare that presentation is delayed until adulthood. We report a case of 63-year-old woman without notable pathological antecedents in whom a systematic chest X-ray revealed multiple bilateral pulmonary nodules. The patient was asymptomatic and her physical examination was normal. CT scan showed bilateral liquid rounded thin-walled densities of various size, with a homogeneous non calcified content. The diagnosis was based on radiological findings and surgery. The result of histopathological examination obtained by thoracic surgery confirmed CCAM without malignancy. The postoperative follow up showed an excellent recovery.     

Congenital cystic adenomatoid malformation complicated by esophageal duplication cyst in a 6-month-old girl

We report a case of congenital cystic adenomatoid malformation (CCAM) complicated by an esophageal duplication cyst in a 6-month-old girl. The patient presented with recurrent pneumonia. Magnetic resonance imaging revealed two cystic lesions in the upper and lower lobes of the right lung. After cystectomy, histopathological investigation revealed that the lower cyst was a CCAM Type I, and the upper cyst was an esophageal duplication cyst. The coexistence of these complex anomalies supports the concept that the esophageal duplication cyst is one entity of a broad spectrum of developmental abnormalities caused by abnormal budding of the primitive foregut.     

Congenital cystic diseases of the intra and extrahepatic bile ducts

Congenital cystic lesions of bile ducts may affect intra or extrahepatic bile ducts. Intrahepatic lesions include five entities: congenital hepatic fibrosis, Caroli's syndrome, von Meyenburg complexes, simple cyst of the liver and polycystic liver disease. Congenital hepatic fibrosis and von Meyenburg complexes are secondary to ductal plate malformation affecting the smallest intrahepatic bile ducts. Cystic dilatations are of small size and only detected at histological examination of the liver. They have few clinical consequences. In congenital hepatic fibrosis, the main manifestations result from portal hypertension. Caroli's syndrome is secondary to ductal plate malformation affecting the largest intrahepatic bile ducts. Cystic dilatations are macroscopic and responsible for cholangitis and may lead to biliary stones and carcinoma which develop within cystic dilatations. Caroli's syndrome may be or not associated with congenital hepatic fibrosis. In case of associated congenital hepatic fibrosis, portal hypertension is present. Simple cyst of the liver and polycystic liver disease are characterized by cystic dilatations which, by contrast to the preceding entities, do not communicate with the rest of biliary tree. As a result, they have only few clinical consequences. In congenital hepatic fibrosis and polycystic liver disease, renal abnormalities are frequently observed. They correspond to renal malformations associated with biliary malformations. In congenital hepatic fibrosis, renal lesions are characterized by ectatic collecting tubules which are present in two thirds of the cases and transmitted as an autosomal recessive trait. In polycystic liver disease, renal lesions are characterized by polycystic disease which is present in half of the cases and transmitted as an autosomal dominant trait. Congenital cystic lesions of extrahepatic bile ducts consist of choledochal cyst, which is secondary to malformation of the pancreato-biliary ductal junction. The major risk of choledochal cyst is the development of intracystic cancer, the prevention of which is total surgical resection of the cyst.     

Congenital cystic adenomatoid malformation of the lung. Prenatal diagnosis in a case

We report a case of congenital cystic adenomatoid lung malformation, type I in the Stocker classification, diagnosed at ultrasonography at 27 weeks gestation. The lesion stabilized as was the hydramnios. Vaginal delivery was uneventful. Early surgery with lobectomy led to a favorable outcome at 8 months follow-up. Congenital adenomatoid lung malformation is a rare finding. Prenatal ultrasound diagnosis has enabled early treatment and improved prognosis.     

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.     

Diffuse chondroid malformation of the lung: Cases series of a hitherto undescribed congenital lung disease

Congenital chondroid lesions of the lung are rare pathological findings. They are a constant feature of lung malformations such as giant cystic pulmonary chondroid hamartoma, chondroid cystic malformation, and in the “cartilaginous variant” of congenital adenomatoid malformation. All of these present as a large single thoracic mass. We present the cases of three males and two females with hitherto undescribed diffuse chondroid lung disease, all but one of whom had neonatal respiratory distress syndrome with interstitial syndrome on chest radiograph. The pathological findings were similar in all patients, showing large areas of disorganized lung parenchyma containing diffusely distributed mature cartilage islands. With a mean follow‐up of 6 years, all patients had a favorable outcome. This diffuse chondroid lung disease appears to be a new entity whose initial presentation mimicked interstitial lung disease without the usual clinical, radiological, and histological features. We speculate that it could be part of a clinical spectrum between malformative chondroid lung cyst and congenital pulmonary airway malformation. Pediatr Pulmonol. 2010; 45:667–673. © 2010 Wiley‐Liss, Inc.     

Haemopneumothorax from congenital cystic adenomatoid malformation in a cryptorchidism patient.

Congenital cystic adenomatoid malformation (CCAM) of the lung is an uncommon congenital anomaly, especially in young adults. This study reports an 18-yr-old male with CCAM involving the right upper lobe, who presented with a moderate spontaneous haemopneumothorax initially. The patient also had bilateral abdominal cryptorchidism which required surgical treatment earlier in childhood. The chest radiographs and contrast-enhanced computed tomographic scan of the chest showed a multicystic lesion with air-fluid levels in the right upper lung. The right upper lobe was resected through a posterolateral thoracotomy. Histological examination confirmed the diagnosis of CCAM. To the authors' knowledge, congenital cystic adenomatoid malformation presenting with spontaneous haemopneumothorax and haemoptysis has never been described in the literature.     

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. Report of 3 cases with late presentation

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare congenital developmental abnormality, representing about 25% of all congenital lung lesions. In many cases, respiratory distress occurs during the neonatal period, and in about 80- 85% of patients, CCAM is diagnosed before the age of two years due to respiratory infection. It is very rare that presentation is delayed until adulthood. We report three cases of CCAM presenting in adults. The diagnosis was based on clinical and radiological findings in one case and two patients were not diagnosed until surgery. The lesion was present in the right lung in two and in left lung in one patient. All patients underwent surgical resection. The result of histopathological examination confirmed CCAM Stocker type 1, without malignancy. The post operative follow up showed an excellent recovery. Clinicians and pathologists need to be aware of the fact that CCAM can be present for the first time in adolescents or in adults. The clinical diagnosis is suggested by radiographic findings and is confirmed at pathology as surgery is generally indicated.     

Pulmonary cystic adenomatoid malformation in an adult patient: an underdiagnosed disease

Currently, most congenital lower respiratory tract malformations are detected during pregnancy or at birth, thanks to antenatal imaging. However, a pulmonary congenital cystic adenomatoid disease may be found in adulthood. The diagnosis is difficult, due to its rarity. We present the case of a patient whose diagnosis of pulmonary cystic adenomatoid malformation was confirmed when she had tuberculosis. A lobectomy was performed, which enabled identification of tuberculosis and also multiple cysts of adenomatoid malformation. The risk posed by this malformation, i.e. the risk of developing bronchioloalveolar carcinoma and of infection or pneumothorax, is the incentive for proposing formal surgical removal.     

Otomastoiditis candidiasica and hyper IgE syndrome

PATIENT: A 5-year-old girl presented with chronic otorrhea, cervical adenopathies and cellulitis of the knee. In addition to these lesions, physical examination revealed eczema on the scalp, neck, perineal and umbilical regions and the persistence of deciduous teeth with adult teeth (double dental arch). Complementary investigations showed the following concentrations: IgE 23969 UI/l, IgD 440 U/L, IgG 23000 mg/L, and IgA 4220 mg/L. Intradermal skin testing to Candida was negative and the results of the remaining immunological studies were normal. Computerized axial tomography revealed bilateral otomastoiditis. Candida albicans was isolated from ear secretion cultures. The definitive diagnosis was hyper IgE syndrome. The patient responded favorably to antibiotic and antifungal therapy and is currently undergoing period outpatient monitoring.     

Mirizzi syndrome secondary to an adenoma of the cystic duct

Bile duct adenomas are uncommon lesions that can cause obstructive jaundice. We report the unusual case of a 54-year-old man who developed Mirizzi syndrome secondary to a bile duct papillary adenoma located in the cystic duct remnant. A case report is presented, together with a review of extrahepatic bile duct adenomas published in the English-language literature, with special attention directed toward the clinical manifestations, locations, and prognosis of these tumors. Bile duct adenomas are very rare tumors. Although cholangiography can detect many of these lesions, few cases were correctly diagnosed preoperatively. Most lesions were located in the distal common bile duct or at the ampulla of Vater. Pathologic examination often revealed foci of carcinoma in situ, dysplasia, or atypia. Local resection was performed in most cases. There were no previous case reports of extrinsic common bile duct obstruction caused by tumors within the cystic duct. We describe here a very rare, acalculous variant of Mirizzi syndrome secondary to a solitary papillary adenoma of the cystic duct. In general, bile duct adenomas are uncommon lesions that are difficult to diagnoses preoperatively. These tumors usually present with jaundice secondary to intraluminal biliary obstruction. These lesions are premalignant and should be managed by complete surgical resection.     

Bone marrow transplantation does not correct the hyper IgE syndrome

Congenital immunodeficiency in hyper IgE syndrome is characterised by a markedly raised IgE level, recurrent staphylococcal skin infection and pneumatoceles. Standard treatments include anti-staphylococcal antibiotics. We report a severely affected patient in whom successful bone marrow transplantation was followed by reappearance of the immunodeficiency. We conclude that bone marrow transplantation does not cure the immunological features of the hyper IgE syndrome. Bone Marrow Transplantation (2000) 25, 1303-1305.     

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.     

Congenital cystic adenomatoid malformation--clinical spectrum and management

Congenital cystic adenomatoid malformation (CCAM) is one of the most frequent dysplasias of the lung. Diagnosis is often suspected in utero and urges obstetricians, pediatricians, and pediatric surgeons to make appropriate management decisions as to an optimal management for the affected patients. We report on a preterm baby with a gestational age of 33 weeks, suffering from hydrops fetalis and postnatal respiratory distress syndrome, a two-year old boy with clinical signs of a foreign body aspiration, and a seven-year old boy with a funnel chest. In each case, surgical resection was performed, the histology revealing CCAM. Our case report describes the broad clinical spectrum of CCAM. An algorithm is presented, helping to make diagnostic and therapeutic decisions.     

Video-assisted thoracoscopic surgery in 3 cases of adult cystic adenomatoid malformation

Congenital cystic adenomatoid malformation involving the lung is a rare hamartomatous condition that is usually diagnosed in the neonatal period. The presentation of this malformation in older patients is exceptional and usually manifests in a series of recurrent lung infections affecting a single lobe or segment. The treatment of choice is complete surgical exeresis. This report of 3 cases of late presentation focuses on the surgical approach used and the unusual manifestation of recurrent spontaneous pneumothoraces in 1 patient. The patients were females aged 15, 16, and 25 years with histories of various respiratory diseases (extrinsic asthma, recurrent pneumonias, and pneumothoraces). The patients were referred to us for surgery with suspected diagnoses that were different from the final diagnoses in all cases. All underwent diagnostic video-assisted thoracoscopy to explore the affected hemothorax, and definitive treatment was possible during the procedure for 2 patients (a lobectomy and an atypical segmentectomy) by video-assisted surgery. The third patient underwent lobectomy by lateral thoracotomy after exploratory video-assisted thoracoscopy. Short- and long-term outcomes were excellent for all 3 patients.     

Congenital lung malformation: Evaluation of prenatal and postnatal radiological findings

Background and objective:   This study evaluated the accuracy of prenatal MRI and postnatal CT imaging in the identification of congenital cystic adenomatoid malformation and bronchopulmonary sequestration by comparison with histological analysis.
Methods:   Over a 3-year period, 15 patients with lung malformations diagnosed prenatally by ultrasound were referred for prenatal MRI, and all were investigated postnatally by chest CT. All asymptomatic newborns with unresolved lesions underwent elective surgery by thoracoscopy. All surgical specimens were analysed histologically.
Results:   Among the 15 patients with an abnormality diagnosed by ultrasound, prenatal MRI findings differed from the final histological diagnosis with respect to extent ( n  = 3), type of lesion ( n  = 1) and aberrant vessel identification ( n  = 4). Postnatal chest CT failed to visualize the aberrant vessel in one patient. Complete regression of the lesion was noted in two patients with bronchopulmonary sequestration, and in one patient with congenital cystic adenomatoid malformation and was confirmed by CT. Elective thoracoscopic lobectomy of the affected lobe was performed for 12 patients. Two conversions to thoracotomy were required. All operated patients had an uneventful hospital course.
Conclusions:   Prenatal MRI is less accurate than postnatal CT scan, which remains the most reliable diagnostic modality to specify the location and extent and kind of lesions.     

成人先天性肺囊性病变影像学分析

目的:探讨成人先天性肺囊性病变的影像学特点以及与肺癌的关系。方法:对23例经外科手术切除病理证实的成人先天性肺囊性病变,进行影像学分析,并系统复习文献。结果:支气管源性肺囊肿12例(52.2%);先天性囊性腺瘤样畸形5例(21.7%),其中1例伴发黏液性原位腺癌(LASLC/ATS/ERS 2011年版肺癌新分类),1例伴发鳞癌;肺隔离症6例(26.1%)。结论:成人先天性肺囊性病变最常见类型,是支气管源性肺囊肿。先天性囊性腺瘤样畸形少见,诊断过程中如怀疑先天性囊性腺瘤样畸形,应警惕发生肺癌的危险。