CHEST Guidelines-A-13-Year-Old-Male-Patient-With-Severe-Multifocal-

A-13-Year-Old-Male-Patient-With-Severe-Multifocal-

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The document discusses a rare medical case of a 13-year-old male with severe multifocal pneumonia and bronchiectasis, requiring venovenous extracorporeal membrane oxygenation (VV-ECMO) as a bridge to potential lung transplantation. The patient, who had a history of asthma and joint hypermobility, presented in acute respiratory distress with severe hypoxemia. Initial diagnostic imaging and blood tests indicated multifocal pneumonia and bronchiectasis, and cultures identified an infection with methicillin-sensitive Staphylococcus aureus.<br /><br />Throughout the medical evaluation, the patient underwent a comprehensive infectious and genetic workup, including tests for cystic fibrosis (CF), primary ciliary dyskinesia, and other conditions, which were all negative. High-resolution CT scans revealed cystic and varicoid bronchiectasis, specifically indicating Williams-Campbell syndrome (WCS). WCS is characterized by the absence or deficiency of cartilage in certain bronchial segments, leading to the noted cystic bronchiectasis.<br /><br />The document provides a detailed discussion about WCS, highlighting it as a rare condition first reported in the 1960s. It outlines the likely congenital origins of the disorder, the lack of a specific genetic anomaly, and explores the diagnostic challenge it presents. As WCS is a diagnosis primarily by exclusion, it strengthens the case by ruling out other potential causes of the patient’s symptoms, such as CF.<br /><br />The paper emphasizes the limited treatment options currently available for WCS, noting infection control, symptomatic relief, and prevention of further infections as key management strategies. Lung transplantation is considered a possible treatment, especially when severe respiratory failure is present. The document concludes with the importance of considering WCS in differential diagnoses when similar clinical presentations of bronchiectasis and respiratory distress appear without a clear cause.

Keywords

Williams-Campbell syndrome

multifocal pneumonia

bronchiectasis

VV-ECMO

lung transplantation

methicillin-sensitive Staphylococcus aureus

cystic fibrosis

congenital disorder

respiratory distress

infection control