42 Cystic Fibrosis

CASE 42


Clinical Presentation


An 18-month-old girl presents with recurrent episodes of respiratory distress and suspected pneumonia.


image

Figure 42A


Radiologic Findings


Frontal (Fig. 42A1) and lateral (Fig. 42A2) views of the chest in an 18-month-old girl reveal subtle early changes of lower airways disease, including mild diffuse overinflation and mild bilateral central bronchial wall thickening, consistent with early changes of cystic fibrosis. This was the third episode of suspected lower airway respiratory disease in the first year of life, prompting the child’s physician to perform a sweat test. Note that the area of subsegmental atelectasis is greater in the right upper lobe than in the left upper lobe.


Diagnosis


Early cystic fibrosis


Differential Diagnosis



  • Asthma
  • Unlucky child with recurrent episodes of bronchiolitis
  • Early immune deficiency, especially immunoglobulin deficiency
  • Recurrent aspiration
  • Primary ciliary dyskinesia

Discussion


Background


Cystic fibrosis is said to be the most common life-shortening inherited disease in the Caucasian population, affecting approximately 1 in 2500 live births in the United States and northern Europe. It is estimated that ~4% of whites are heterozygous for the most common form of the disorder.


Etiology


Current genetic technology has identified the genetic defect to be a mutation on the long arm of chromosome 7. The most common mutation is at the position dF 508 (70–80% of cases). The resultant mutation causes a physiologic disturbance in the sodium chloride ion transport system in epithelial cell membranes. This results in viscous secretions causing inspissated mucus in the tracheobronchial tree, digestive system, reproductive system, and sweat glands.


Clinical Findings

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Dec 21, 2015 | Posted by in PEDIATRIC IMAGING | Comments Off on 42 Cystic Fibrosis

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