Case submitted by Garrett Dejesus, MD, and Thomas J. Learch, MD.
- Five-year-old female with chief complaint of cough and shortness of breath. The patient and her family recently moved to Los Angeles from Texas.
- Past medical history is unknown by the patient’s father, but current medications include Proventil, Pulmozyme, Ivacaftor and multivitamins.
- Initial vital signs:
Heart rate: 105 beats/min
Blood pressure: 106/61 mmHg
Respiratory rate: 22 breath/min
O2 saturation: 94 percent on room air
Oral temperature: 98.6 F
- Pertinent physical exam:
Decreased breath sounds with rhonchi and wheezing
Cool, clammy skin
Initial chest X-ray
For a larger image, please click on Dejesus 1 .
PA chest X-ray demonstrates hyperinflation, fibrosis, bronchiectasis and superimposed patchy opacities. The cardiac silhouette is normal.
- Upon further questioning, the patient’s father reports that his daughter has a baseline of cough and dyspnea, however, he brought her in today because her symptoms have acutely worsened.
- He also describes a history of chronic diarrhea and poor weight gain.
- The patient was admitted to the hospitalist service, begun on supplemental oxygen, inhaled bronchodilator treatment, Intravenous fluids, chest physical therapy, and prophylactic antibiotics.
- Because of the atypical appearance of the lungs on chest X-ray, a chest CT without contrast was performed.
For a larger image, please click on Dejesus 2 .
Standard axial CT of the chest without contrast demonstrates bilateral bronchial wall thickening and cystic bronchiectasis. Note the cylindrical bronchiectasis with mucous impaction and scattered patchy consolidations.
The importance of providing a relevant differential diagnosis when interpreting exams: In the above coronal and axial noncontrast chest CT, we see bronchiectasis, fibrosis and mucus impaction. A differential diagnosis for the above findings would include: Allergic bronchopulmonary aspergillosis, Mounier-Kuhn syndrome, congenital cystic bronchiectasis and langerhans cell histiocystosis.
For a larger image, please click on Dejesus 5 .
Axial CT chest without contrast - as part of a routine CT chest, images are obtained slightly below the diaphragms to exclude possible upper abdomen pathology. As we see in our patient, there is near-complete fatty replacement of the pancreas.
Subsequently, records were obtained from the patient primary care pediatrician in Texas. Per report, the patient was diagnosed with cystic fibrosis at 2 months of age via a positive sweat chloride test.
Interestingly, the patient's clinical chart indicated that suspicion for cystic fibrosis was present soon after birth because she presented with a bowel obstruction. Meconium ileus was determined to be the cause of her obstruction.
For a larger image, please click on Dejesus 7 .
An example of meconium ileus: babygram X-ray post fluoroscopic barium enema demonstrates a microcolon involving the entire colon. Small lucencies in the right colon and distal ileum represent impacted meconium pellets. Neonates with this condition present with bowel obstruction within the first few days of life.
Cystic fibrosis is a disease of exocrine gland function that involves multiple organ systems but chiefly results in chronic respiratory infections, pancreatic enzyme insufficiency, and associated complications in untreated patients. Pulmonary involvement occurs in 90% of patients surviving the neonatal period. End-stage lung disease is the principal cause of death.
Image courtesy of learn.genetics.utah.edu
Extrapulmonary diseases as a consequence of CF:
- Failure to thrive
- Liver disease
- Portal hypertension
- Sclerosing cholangitis
- Recurrent pancreatitis
- Nephrotic syndrome
- Abnormal sexual development
There are a host of other potential manifestations of cystic fibrosis not listed here (e.g., sinusitis, nasal polyps etc). Meconium ileus (which we saw earlier) is highly associated with cystic fibrosis. Approximately 22 percent of neonates born with cystic fibrosis present with meconium ileus.
Cystic Fibrosis: Diagnosis
Requirements for a CF diagnosis include either positive genetic testing or positive sweat chloride test findings (>60 mEq/L) and one of the following:
- Typical chronic obstructive pulmonary disease
- Documented exocrine pancreatic insufficiency
- Positive family history (usually affected sibling
Cystic Fibrosis: Treatment
Treatment is complex and involves a multisystemic approach.
The primary goals are:
- Maintain lung function (bronchodilators, aggressive treatment of infections with antibiotics/antifungals, mucolytics, chest physical therapy, etc).
- Administer nutritional therapy (enzyme replacement, multivitamins, and mineral supplements).
- Manage complications (infections, renal disease, gallstones, etc)
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