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

Editor's Note: The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills using the following patient scenario and corresponding questions.


A 24-year-old man with Down syndrome presents to the emergency department with a four-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 three years. There is no history of recent travel, and the mother reports no recent weight loss. He has no other significant 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.


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