Chest / Cardiac for Wednesday, April 9th, 2025

History

11 year old male presents with chronic cough and frequent respiratory infections. Notably, he also describes foul-smelling stools, fatigue and a plateau in weight gain.  

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Question

What is the clinical diagnosis?

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Correct answer

Cystic Fibrosis

Discussion

A sweat chloride test was performed and was positive consistent with a diagnosis of Cystic Fibrosis (CF). The patient was admitted with the initiation of IV antibiotics and bronchoscopy for treatment of suspected bronchopneumonia. CFTR genetics were sent to further phenotype the patient with consideration for qualification of CFTR corrector and potentiator medications.

CF is typically diagnosed within the first months of life, commonly by a concomitant diagnosis of meconium ileus (seen in up to 20% of infants with CF). However, without proper family history and the absence of early symptoms, CF can be diagnosed later in life. Children often present with chronic pneumonia, cough, and failure to thrive.

Classic imaging findings on chest radiograph and CT of CF include: hyperexpanded lungs with asymmetric aeration, peribronchial thickening, and mucus plugging within bronchiectactic changes commonly seen in the upper lobes of the lungs. Airspace disease can also be present, most commonly seen as bronchopneumonia. 

Differential diagnosis

Cystic Fibrosis

Kartagener’s syndrome: presents with bronchiectasis but also associated with situs inversus.

Pulmonary Langerhans Cell Histiocytosis: presents with upper lobe predominant lung cysts but no bronchiectactic changes or peribronchial edema/thickening. 

Alpha-1 Antitrypsin: can have chronic interstitial lung changes but most commonly presents with emphysema in the lower lobes of the lungs with elevated liver enzymes.

References

• Parikh NS, Ibrahim SY, Ahlawat R. Meconium Ileus. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025
• Wielpütz, M. O., et al. "Imaging of cystic fibrosis lung disease and clinical interpretation." RöFo-Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren. Vol. 188. No. 09. © Georg Thieme Verlag KG, 2016.