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HomeProfessionalsClinical ResourcesClinical Cases ▶ Persistent Dyspnea in a Patient with Down’s Syndrome
Persistent Dyspnea in a Patient with Down’s Syndrome

Reviewed By Allergy, Immunology & Inflammation Assembly

Submitted by

Sindhu Mukku, MD

Fellow

Division of Pulmonary, Allergy, Critical Care and Sleep Medicine

The Ohio State University Wexner Medical Center

Columbus, Ohio

S. Patrick Nana-Sinkam, MD

Associate Professor of Internal Medicine

Division of Pulmonary, Allergy, Critical Care and Sleep Medicine

The Ohio State University Wexner Medical Center

Columbus, Ohio

Submit your comments to the author(s).

History

A 21-year old man with Down’s Syndrome presented from an outside hospital with the complaint of three weeks of persistent cough and dyspnea. Prior to seeking care at our facility, he was treated at a local community hospital for progressively worsening cough, productive of thick yellow sputum. He was started on broad-spectrum antibiotics, prednisone, and bronchodilators. Computed Tomography (CT) of the chest revealed bibasilar atelectasis and apical emphysematous changes. He also underwent a bronchoscopy, which revealed thick secretions, but was otherwise unremarkable with negative bacterial cultures.

He was subsequently transferred to our institution for further evaluation and upon arrival, complained of sinus congestion, post-nasal drip, and cough productive of foul-smelling sputum.

Past Medical and Surgical History: Trisomy 21, diabetes mellitus, alpha-1 antitrypsin carrier (MZ phenotype), and repair of patent ductus arteriosus as a child.

Family and Social History: Mother is an alpha-1 antitrypsin carrier (MZ phenotype). Patient denied cigarette, alcohol, or illicit drug use, but was exposed to mother’s second-hand smoke. He had no known exposures to farm-animals, birds, or tuberculosis.

Physical Exam

He was a well-developed male in moderate respiratory distress. His oxygen saturation on 6 liters via nasal cannula was 95%. His temperature was 37 C, respiratory rate 26, heart rate 110 beats per minute, and blood pressure 112/75. He had no palpable sinus tenderness. Oral exam revealed a grade 3 Mallampati airway. He had a barking cough that could be heard throughout the corridors. There were diminished sounds at the lung bases but otherwise no wheezing, rhonchi, or rales. Physical exam was otherwise unremarkable.

The patient was placed on broad-spectrum intravenous antibiotics. Sputum was sent for culture and showed heavy purulence but no organisms. Serologies were sent for Bordatella pertussis and Legionella, which were negative.

Figures


Figure 1. Chest Radiograph showing generally clear lung fields without obvious focal airspace disease.

Figure 2.1 Computed Tomography (CT) of the chest showing decreased anterior-posterior diameter of the tracheal lumen

Figure 2.2 CT of the chest showing significant luminal collapse at the level of the carina

Figure 3. Photo taken during bronchoscopy demonstrating abnormal appearance of tracheal wall and cartilaginous rings at the level of the carina. Note the relative flattening of the left mainstem bronchus compared to the right.

Question 1

    Which of the following is not a pulmonary complication of Down’s Syndrome in childhood?

      References

      1. McDowell KM, Craven DI. Pulmonary complications of Down syndrome during childhood. J Pediatr. 2011 Feb;158(2):319-25. Epub 2010 Sep 16. Review. PubMed PMID: 20846671.
      2. Pandit C, Fitzgerald DA. Respiratory problems in children with Down syndrome. J Paediatr Child Health. 2012 Mar;48(3):E147-52. doi: 10.1111/j.1440-1754.2011.02077.x. Epub 2011 Apr 29. Review. PubMed PMID: 21535288.
      3. Carden KA, Boiselle PM, Waltz DA, Ernst A. Tracheomalacia and tracheobronchomalacia in children and adults: an in-depth review. Chest. 2005 Mar;127(3):984-1005. Review. PubMed PMID: 15764786.
      4. Lee KS, Sun MR, Ernst A, Feller-Kopman D, Majid A, Boiselle PM. Comparison of Dynamic Expiratory CT With Bronchoscopy for Diagnosing Airway Malacia: A Pilot Evaluation. Chest. 2007 Mar;131(3):758-64. PubMed PMID: 17356090.
      5. Ferretti GR, Jankowski A, Perrin MA, Chouri N, Arnol N, Aubaud L, Pepin JL. Multi-detector CT evaluation in patients suspected of tracheobronchomalacia: comparison of end-expiratory with dynamic expiratory volumetric acquisitions. Eur J Radiol. 2008 Nov;68(2):340-6. Epub 2007 Oct 29. PubMed PMID: 17913426
      6. S, Michaud G, Herth F, Ernst A. Tracheobronchoplasty for severe tracheobronchomalacia: a prospective outcome analysis. Chest. 2008 Oct;134(4):801-7. PubMed PMID: 18842912.