Swyer-James-MacLeod syndrome

=Swyer-James-MacLeod Syndrome = Swyer-James-MacLeod Syndrome (SJMS) is a rare pulmonary disorder characterized by unilateral hyperlucent lung, often resulting from post-infectious obliterative bronchiolitis. This condition is typically identified in childhood but may not be diagnosed until adulthood.

History

Swyer-James-MacLeod Syndrome was first described by British radiologist Paul Robert Swyer and Scottish physician George James in 1953, and independently by William Mathieson MacLeod in 1954. The syndrome is named after these physicians who contributed to its identification and understanding.

Etiology

The exact cause of SJMS is not fully understood, but it is believed to result from an inflammatory process following a severe pulmonary infection, such as adenovirus or measles, during early childhood. This infection leads to damage and scarring of the airways, resulting in obliterative bronchiolitis.

Pathophysiology

In SJMS, the affected lung becomes hyperlucent due to air trapping and reduced vascularity. The bronchioles are narrowed or obliterated, leading to decreased perfusion and ventilation in the affected lung. This results in a characteristic radiological appearance of a hyperlucent lung on chest X-ray or CT scan.

Clinical Presentation

Patients with SJMS may present with:

• Chronic cough
• Recurrent respiratory infections
• Dyspnea (shortness of breath)
• Wheezing

However, some individuals may remain asymptomatic and the condition is discovered incidentally during imaging for other reasons.

Diagnosis

The diagnosis of Swyer-James-MacLeod Syndrome is primarily based on imaging studies. A chest X-ray typically shows a unilateral hyperlucent lung with reduced vascular markings. A CT scan can provide more detailed information, showing air trapping and bronchiectasis. Pulmonary function tests may reveal obstructive patterns, and ventilation-perfusion scans can demonstrate decreased perfusion to the affected lung.

Differential Diagnosis

Conditions that may mimic SJMS include:

• Congenital lobar emphysema
• Bronchiectasis
• Pulmonary embolism
• Pneumothorax

Management

There is no specific treatment for SJMS. Management focuses on symptomatic relief and prevention of respiratory infections. This may include:

• Bronchodilators
• Antibiotics for bacterial infections
• Vaccinations to prevent viral infections

In severe cases, surgical intervention such as lobectomy may be considered.

Prognosis

The prognosis for individuals with SJMS varies. Many patients lead normal lives with minimal symptoms, while others may experience recurrent respiratory issues. Regular follow-up and management of symptoms are important to maintain quality of life.

Research and Future Directions

Ongoing research aims to better understand the pathogenesis of SJMS and to develop targeted therapies. Advances in imaging and molecular diagnostics may improve early detection and management of this rare condition.

See Also

• Obliterative bronchiolitis
• Unilateral hyperlucent lung
• Pulmonary function test

External Links

• [Link to a reputable medical resource]

NIH genetic and rare disease info

• NIH info on Swyer-James-MacLeod syndrome

Swyer-James-MacLeod syndrome is a rare disease.