A 24-Year-Old Man With Down Syndrome and Shortness of Breath

Dieu-Thu Nguyen-Khoa, MD; Mona Sabeti, MD; Anh H. Au, MD


September 30, 2014

Physical Examination and Work-up

On physical examination, the patient is noted to be a well-nourished man, with the classic dysmorphic facial features associated with Down syndrome. His oral temperature is 96.9°F, blood pressure is 116/66 mm Hg, and heart rate is 102 beats/min. His respiratory rate is 16 breaths/min, and his oxygen saturation is 92% while breathing room air. He has a normal respiratory effort, and his lung sounds are clear to auscultation bilaterally with deep inspiration.

The heart examination is mildly tachycardic, with a regular rhythm; normal S1 and S2 heart sounds; and no murmurs, rubs, or gallops. The patient's abdomen is soft, nondistended, and nontender; no masses or organomegaly is noted. There is no costovertebral angle tenderness on palpation and no evidence of lymphadenopathy. A genital examination and digital rectal examination are deferred. His extremities do not exhibit any clubbing, cyanosis, or edema.

The initial laboratory tests show a normal urinalysis, with no evidence of blood or infection. The basic metabolic panel and complete blood count are also unremarkable. A liver panel shows a normal aspartate aminotransferase value of 36 U/L (normal range, 15-41 U/L) and an alanine aminotransferase value of 27 U/L (normal range, 14-54 U/L). There is, however, a mild elevation of alkaline phosphatase, at 257 U/L (normal range, 38-126 U/L) and a low albumin level of 2.9 g/dL (29 g/L; normal range, 3.5-4.8 g/dL). The lactate dehydrogenase (LDH) level is elevated at 1229 U/L (normal range, 98-192 U/L).

On coagulation studies, the prothrombin time value is 16.1 sec (normal range, 11.4-14.1 sec) and the international normalized ratio is slightly elevated, at 1.33.

A chest radiograph is obtained to further evaluate the patient's dyspnea (Figure 1).


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