williams - campbell syndrome ( wcs ) is a rare congenital syndrome characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi , leading to distal airway collapse , producing a mechanical abnormality that may contribute to the formation of bronchiectasis distal to the collapsed bronchi .
the defect usually is between the fourth and sixth order bronchial divisions , but it may extend between first to eight generations of proximal bronchi .
the deficiency in cartilage occurs early in life when the lungs are still developing and growing .
the symptoms and prognosis ultimately depend on the extent of cartilage maldevelopment of the bronchi .
although the syndrome has been best described in children with recurrent pneumonia and broncho - obstructive symptoms such as coughing and wheezing , there have been case reports in adults diagnosed late , mainly because of misdiagnosis with other more common pathologies .
wcs was first described by williams and campbell et al in 1960 as a rare form of congenital bronchiectasis .
it was proposed that the abnormal development of cartilage in bronchial tree was responsible for this presentation .
other anatomic features of the syndrome include absence or destruction of other ( non - cartilaginous ) bronchial wall structures by inflammation and a relatively uniform , bilateral distribution of the process .
there is also early development of clubbing because of recurrent suppurative infections and extensive radiological changes of saccular bronchiectasis . in 1976 ,
the first report of the occurrence of familial bronchiectasis in siblings was published and supported the theory that wcs was congenital , based on the uniformity of the cartilaginous defect .
it may be possibly the result of an autosomal recessive mechanism , but genetic studies have not identified the specific gene so far . although most described cases presented sporadically in early childhood , subclinical cases maybe diagnosed as late as in adulthood .
some authors have classified wcs in congenital and acquired forms . the congenital form is usually found in children and is associated with congenital anomalies such as polysplenia , malrotation of the abdominal viscera , thorax piriformis , congenital cardiac diseases and bronchial isomerism .
other authors support the acquired hypothesis , in which bronchiectasis is secondary to adenovirus infections that cause bronchomalacia .
diagnosis requires an appropriate clinical history , the characteristic expiratory airway collapse on radiological investigation , and exclusion of other causes of congenital and acquired bronchiectasis .
pathology of the affected bronchi by bronchoscopy showing the deficiency of cartilaginous plates in the bronchial wall is the confirmatory test .
early reports relied on bronchography and fluoroscopic visualization , which did not offer good quality images .
fiberoptic bronchoscopy on the other hand is often non - diagnostic and not all patients are good candidates for these procedures . during the 1990s , ct became the radiological investigation of choice . in 2006 , di scioscio et al . described a case of wcs using inspiratory and expiratory ct imaging , which showed inspiratory ballooning of bilateral cylindrical / cystic bronchiectasis distal to the third - generation bronchi with hyperinflation of the lung . on expiration phase
, there was a complete collapse of the bronchiectasis , suggesting the absence of cartilaginous plates in the subsegmental bronchi .
used in addition to conventional ct , a three - dimensional reconstruction of the bronchial tree .
described by them showed collapsed subsegmental bronchi on conventional ct , but on ct bronchoscopy , images appeared deficient of cartilage rings ( absence of ring impressions ) from the main stem to the subsegmental level , which could be of great significance , especially if lung transplant is considered as a treatment option .
therefore , considering its non - invasive methodology , facility of execution , and good patient tolerance , multi - slice spiral ct or ct bronchoscopy should be the test of choice to study cystic lung diseases in particular wcs .
prophylaxis can be achieved if an oral or intravenous antibiotic is given for 7 - 10 days or until sputum production decreases . for severe cases ,
several different antibiotics may be used sequentially in a continuous regimen to minimize bacterial resistance . in 2011 , hacken et al .
conducted a systematic review , aiming to answer what are the effects of treatments in people with bronchiectasis but without cystic fibrosis .
the following treatment recommendations were given : exercise or inspiratory muscle training may improve quality of life and exercise endurance in people with bronchiectasis but without cystic fibrosis .
prolonged use of antibiotics improves clinical response rates and may improve quality of life and reduce time to first exacerbation , but it may not reduce exacerbation rates or improve lung function . inhaled corticosteroids may reduce sputum volume and improve dyspnea , but have not been shown to reduce exacerbations .
there are not enough studies to prove if bronchopulmonary hygiene , physical therapy , mucolytics , inhaled hyperosmolar agents , oral corticosteroids , leukotriene receptor antagonists , short - acting beta 2 agonists , long - acting beta 2 agonists , or anticholinergic therapy is beneficial .
there are case reports that domiciliary non - invasive positive pressure ventilation ( nppv ) may have an advantage in adult patients with wcs who have severe respiratory failure and recurrent pulmonary infections .
wcs is an obstructive disorder that shares some similarities with chronic obstructive pulmonary disorder ( copd ) .
nppv combined with long - term home oxygen therapy decreases carbon dioxide retention and improves dyspnea in hypercapnic copd .
surgery is often considered for people with extreme damage to one or two lobes of the lung who are at risk of severe infection or bleeding .
however , surgery in two patients , one given a triple lobectomy and the other a right upper lobectomy , resulted in severe respiratory failure .
transplantation has been reported in a patient with severe respiratory symptoms from wcs , but the patient died a year later . upon postmortem examination , it was observed that the main bronchi had bronchomalacia , which was attributed to a respiratory infection during the post - surgery period .
given the rarity of the disease , 2006 guidelines from the international society for heart and lung transplantation give no specific recommendation on selection of patients for lung transplantation , but state that with non - cf bronchiectasis the lung transplant community has generally followed the guidelines used for cf patients .
as per these recommendations , the transplant window can be established when fev1 reaches 30% of predicted or with rapid deterioration of fev1 , with increasing frequency of exacerbations or an icu stay , refractory / recurrent pneumothorax and hemoptysis not controlled by embolization .
bronchiectasis is characterized by irreversible widening of medium - sized airways , with inflammation , chronic bacterial infection and destruction of bronchial walls .
the diagnosis of wcs requires an appropriate clinical history , characteristic expiratory collapse of airways , and exclusion of other causes of congenital or acquired bronchiectasis .
there are numerous etiologies that can induce or contribute to the pathophysiologic processes that result in bronchiectasis .
they include airway obstruction ( e.g. , foreign body aspiration ) , defective host defenses , cystic fibrosis , young 's syndrome , rheumatic and systemic diseases , dyskinetic cilia , pulmonary infections , allergic bronchopulmonary aspergillosis and cigarette smoking .
the initial evaluation of a patient with bronchiectasis should include a complete blood count with differential , immunoglobulin quantization ( igg , igm and iga ) , and sputum culture and smear for bacteria , mycobacteria and fungi .
a central distribution is suggestive of allergic bronchopulmonary aspergillosis ; predominant upper lobe distribution is characteristic of cystic fibrosis ; middle and lower lobe distribution is consistent with primary ciliary dyskinesia ; middle lobe and lingular segment of the left upper lobe involvement is characteristic of non - tuberculous mycobacteria ; and lower lobe involvement is typical of idiopathic bronchiectasis .
diagnosis requires an appropriate clinical history , the characteristic expiratory airway collapse on radiological investigation , and exclusion of other causes of congenital and acquired bronchiectasis .
pathology of the affected bronchi by bronchoscopy showing the deficiency of cartilaginous plates in the bronchial wall is the confirmatory test .
early reports relied on bronchography and fluoroscopic visualization , which did not offer good quality images .
fiberoptic bronchoscopy on the other hand is often non - diagnostic and not all patients are good candidates for these procedures . during the 1990s , ct became the radiological investigation of choice . in 2006 , di scioscio et al . described a case of wcs using inspiratory and expiratory ct imaging , which showed inspiratory ballooning of bilateral cylindrical / cystic bronchiectasis distal to the third - generation bronchi with hyperinflation of the lung . on expiration phase
, there was a complete collapse of the bronchiectasis , suggesting the absence of cartilaginous plates in the subsegmental bronchi .
used in addition to conventional ct , a three - dimensional reconstruction of the bronchial tree .
described by them showed collapsed subsegmental bronchi on conventional ct , but on ct bronchoscopy , images appeared deficient of cartilage rings ( absence of ring impressions ) from the main stem to the subsegmental level , which could be of great significance , especially if lung transplant is considered as a treatment option .
therefore , considering its non - invasive methodology , facility of execution , and good patient tolerance , multi - slice spiral ct or ct bronchoscopy should be the test of choice to study cystic lung diseases in particular wcs .
prophylaxis can be achieved if an oral or intravenous antibiotic is given for 7 - 10 days or until sputum production decreases . for severe cases ,
several different antibiotics may be used sequentially in a continuous regimen to minimize bacterial resistance . in 2011 ,
conducted a systematic review , aiming to answer what are the effects of treatments in people with bronchiectasis but without cystic fibrosis .
the following treatment recommendations were given : exercise or inspiratory muscle training may improve quality of life and exercise endurance in people with bronchiectasis but without cystic fibrosis .
prolonged use of antibiotics improves clinical response rates and may improve quality of life and reduce time to first exacerbation , but it may not reduce exacerbation rates or improve lung function . inhaled corticosteroids may reduce sputum volume and improve dyspnea , but have not been shown to reduce exacerbations .
there are not enough studies to prove if bronchopulmonary hygiene , physical therapy , mucolytics , inhaled hyperosmolar agents , oral corticosteroids , leukotriene receptor antagonists , short - acting beta 2 agonists , long - acting beta 2 agonists , or anticholinergic therapy is beneficial .
there are case reports that domiciliary non - invasive positive pressure ventilation ( nppv ) may have an advantage in adult patients with wcs who have severe respiratory failure and recurrent pulmonary infections .
wcs is an obstructive disorder that shares some similarities with chronic obstructive pulmonary disorder ( copd ) .
nppv combined with long - term home oxygen therapy decreases carbon dioxide retention and improves dyspnea in hypercapnic copd .
surgery is often considered for people with extreme damage to one or two lobes of the lung who are at risk of severe infection or bleeding . however , surgery in two patients , one given a triple lobectomy and the other a right upper lobectomy , resulted in severe respiratory failure .
transplantation has been reported in a patient with severe respiratory symptoms from wcs , but the patient died a year later . upon postmortem examination , it was observed that the main bronchi had bronchomalacia , which was attributed to a respiratory infection during the post - surgery period .
given the rarity of the disease , 2006 guidelines from the international society for heart and lung transplantation give no specific recommendation on selection of patients for lung transplantation , but state that with non - cf bronchiectasis the lung transplant community has generally followed the guidelines used for cf patients .
as per these recommendations , the transplant window can be established when fev1 reaches 30% of predicted or with rapid deterioration of fev1 , with increasing frequency of exacerbations or an icu stay , refractory / recurrent pneumothorax and hemoptysis not controlled by embolization .
bronchiectasis is characterized by irreversible widening of medium - sized airways , with inflammation , chronic bacterial infection and destruction of bronchial walls .
the diagnosis of wcs requires an appropriate clinical history , characteristic expiratory collapse of airways , and exclusion of other causes of congenital or acquired bronchiectasis .
there are numerous etiologies that can induce or contribute to the pathophysiologic processes that result in bronchiectasis .
they include airway obstruction ( e.g. , foreign body aspiration ) , defective host defenses , cystic fibrosis , young 's syndrome , rheumatic and systemic diseases , dyskinetic cilia , pulmonary infections , allergic bronchopulmonary aspergillosis and cigarette smoking .
the initial evaluation of a patient with bronchiectasis should include a complete blood count with differential , immunoglobulin quantization ( igg , igm and iga ) , and sputum culture and smear for bacteria , mycobacteria and fungi .
a central distribution is suggestive of allergic bronchopulmonary aspergillosis ; predominant upper lobe distribution is characteristic of cystic fibrosis ; middle and lower lobe distribution is consistent with primary ciliary dyskinesia ; middle lobe and lingular segment of the left upper lobe involvement is characteristic of non - tuberculous mycobacteria ; and lower lobe involvement is typical of idiopathic bronchiectasis .
the diagnosis of wcs is made by exclusion , after detailed work - up and exclusion of the other common causes of bronchiectasis .
when patients ' signs and symptoms include recurrent respiratory infections and diffuse bronchiectasis , wcs should be included in the differential diagnosis .
 williams - campbell syndrome is a rare congenital syndrome characterized by the absence of cartilage in subsegmental bronchi leading to formation of bronchiectasis distal to the affected bronchi . 
 the differential diagnosis of bronchiectasis is broad and the rarity of the disease poses a diagnostic and management challenge for clinicians . 
 this present review aims to help the understanding of the clinical manifestations , pathophysiological features , diagnostic modalities , management and differential diagnosis of williams - campbell syndrome . 
 a medline / pubmed search was performed identifying all relevant articles . 
 no restrictions were used for publication dates . 
 the author used the keywords  williams - campbell syndrome ,   non - cystic fibrosis bronchiectasis  and  congenital bronchiectasis  finding 503 , 195 and 489 articles , respectively . 
Introduction
Diagnosis
Treatment
Differential diagnosis
Conclusion