Case Study - A Cryptic Reason for Shortness of Breath in a Young Man

From MedScape Case Study. Copyright © 2008 Medscape.

Background Figure 1. (Click to enlarge) A 24-year-old man with Down syndrome presents to the emergency department (ED) with a 4-day history of bilateral flank pain, hematuria, and shortness of breath. The patient is accompanied by his mother in the examination room; she gives most of the patient's history. He denies radiation of the flank pain to any other part of his body. He also denies any urinary symptoms, such as dysuria or increased frequency, and he has not experienced any nausea or vomiting. The patient has no history of cough or hemoptysis; fevers, chills, or night sweats; or recent trauma. His bowel and bladder function have been normal. He has a history of bilateral cryptorchidism in childhood, for which he underwent orchiopexy of both undescended testicles at the age of 3 years. There is no history of recent travel, and the mother reports no recent weight loss. He has no other past surgical or medical history. The patient does not smoke, drink alcohol, or use illicit drugs intravenously. He is currently not on any medications and does not have any allergies to medications. 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 (36.1°C), blood pressure is 116/66 mm Hg, and heart rate is 102 bpm. 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 (CBC) are also unremarkable. A liver panel shows a normal AST (aspartate transaminase) value of 36 units/L (normal range, 15-41 units/L) and an ALT (alanine transaminase) value of 27 units/L (normal range, 14-54 units/L). There is, however, a mild elevation of alkaline phosphatase, at 257 units/L (normal range, 38-126 units/L) and a low albumin of 2.9 g/dL (29 g/L; normal range, 3.5-4.8 g/dL). The LDH (lactate dehydrogenase) level is elevated at 1229 units/L (normal range, 98-192 units/L). On coagulation studies, the PT (prothrombin time) value is 16.1 s (normal range, 11.4-14.1 s) and the INR (international normalized ratio) is slightly elevated, at 1.33. A chest x-ray is performed to further evaluate his dyspnea (see Figure 1). Questions answered incorrectly will be highlighted. What is the diagnosis? Hint: The past medical history increases the risk of developing the underlying condition. Pulmonary sarcoidosis Bilateral round pneumonias Metastatic testicular cancer Wegener granulomatosis You may login to Medscape website by using username : mscmsu and password : mscmsu to get the answer for case above. Copyright © 2008 Medscape.