A 7-year-old girl is brought to the clinic due to nasal congestion with facial pain. The patient first developed congestion over a year ago. Her parents have been treating it with over-the-counter allergy medications, but there has been no improvement. Over the past 4 months, the congestion has worsened, and now the patient has difficulty breathing through her nose. She also developed a dry cough and a constant, dull pain over her cheeks. The patient's stools have been loose. Temperature is 37.8 C (100 F). Weight is at

Question

A 7-year-old girl is brought to the clinic due to nasal congestion with facial pain.  The patient first developed congestion over a year ago.  Her parents have been treating it with over-the-counter allergy medications, but there has been no improvement.  Over the past 4 months, the congestion has worsened, and now the patient has difficulty breathing through her nose.  She also developed a dry cough and a constant, dull pain over her cheeks.  The patient's stools have been loose.  Temperature is 37.8 C (100 F).  Weight is at <1st percentile at 18 kg (39.7 lb), decreased from 19 kg (41.9 lb) 3 months ago.  Examination reveals copious yellow mucus within both nares.  Translucent, gray, shiny masses obscure the middle turbinates bilaterally.  Lymphadenopathy is not present.  The lungs have coarse breath sounds bilaterally.  The abdomen is soft with no organomegaly.  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

11ec160b_3aab_c6fd_9249_e35da7fba40a_MD0001_00 This patient has chronic rhinosinusitis with nasal polyposis and failure to thrive, findings concerning for cystic fibrosis (CF). CF is an inherited, multisystem disorder characterized by the abnormal transport of sodium and chloride due to a mutation in the CFTR gene. Although common CF mutations (eg, ΔF508) are often identified on newborn screening, less common mutations may go undetected and cause milder symptoms later in childhood. Abnormal CFTR function causes thick, viscous respiratory secretions and impaired mucociliary clearance, leading to chronic sinopulmonary disease (eg, chronic rhinosinusitis). Patients typically have chronic cough, nasal congestion, and facial pain, as seen in this patient. Bilateral nasal polyps, benign outgrowths of inflamed mucosa, are also common due to chronic infection and present as nontender, shiny, gray masses in the nasal cavity or paranasal sinuses. In CF, viscous secretions can also block pancreatic ducts, leading to pancreatic insufficiency. Decreased or absent pancreatic enzymes cause fat malabsorption with oily, loose stools and failure to thrive and/or weight loss. Over time, pancreatic injury can also lead to insufficient insulin production and CF-related diabetes. (Choice B) HIV infection causes chronic infections and weight loss. However, without a known exposure (eg, blood transfusion), most pediatric HIV cases are transmitted perinatally; these patients typically develop symptoms by age 2, unlike this patient, who is age 7. In addition, nasal polyposis is rare with HIV. (Choice C) Nasopharyngeal carcinoma presents with a nasopharyngeal mass that may cause facial pain and associated weight loss. However, the tumor is typically unilateral, and the diagnosis is usually in patients age >50. (Choice D) Primary ciliary dyskinesia can present similarly to CF, with chronic rhinosinusitis and nasal polyposis due to impaired mucociliary clearance. However, failure to thrive and weight loss are not associated with this disorder. (Choice E) Seasonal allergic rhinitis is a risk factor for developing sinus infections and nasal polyposis but would not cause weight loss. Educational objective: Chronic rhinosinusitis with nasal polyposis in children should prompt evaluation for cystic fibrosis, especially when signs of pancreatic insufficiency (eg, loose stools, failure to thrive, weight loss) are present. __________ References: Paediatric nasal polyps in cystic fibrosis. (http://www.ncbi.nlm.nih.gov/pubmed/27329094)

A 7-Year-Old Girl Is Brought to the Clinic Due to Nasal