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Persistent Dyspnea in a Patient with Down’s Syndrome

Reviewed By Allergy, Immunology & Inflammation Assembly

Submitted by

Sindhu Mukku, MD


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).


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.


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?


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