Shortness of breath, tight pants, and weight gain


A 14-year-old male with trisomy 21 presents with elevated liver enzymes, tachypnea, shortness of breath and increasing abdominal distention. The diagnosis was Wilson's Disease.

His father, who provides the history, reports that two days prior to admission, he began "panting" in his sleep, and developed a cough that bothered him at night. The night prior to admission, the patient was found asleep in a chair, and stated that he "couldn't breathe" when lying down.

Over the past two weeks, his pants have become increasingly tight, and he has gained six pounds. He has also been noted to have increased fatigue, decreased appetite, and increased irritability. The father reports that the patient has been "entering adolescence," and has become more "argumentative and independent." There is no report of fever, diaphoresis, rash, nausea, vomiting, diarrhea, upper respiratory symptoms, or seizures.

The past medical history is significant for trisomy 21, diagnosed at birth. The patient is the male partner of a fraternal twin set, born via C-section at 36 weeks, to a 27-year-old G1P0 mother. His birth weight was 5 pounds, 12 ounces, and he spent 10 days in a Neonatal Intensive Care Unit for feeding problems, but was never intubated. An echocardiogram at birth revealed a complete AV septal defect. The repair to the AV septal defect was a complete repair. T4 and thyroid-stimulating hormone (TSH) levels were normal.

His family history is significant for numerous paternal relatives with Type 1 diabetes mellitus, a paternal grandfather with gout, a maternal grandmother and two maternal great aunts with gynecological cancer, and a maternal grandfather with hypertension. There is no family history of epilepsy, liver disease, childhood cancer, digestive disorders, or myocardial infarction.

The patient lives at home with his parents, his 14-year-old twin sister, a 16-year-old foster brother, and a 9-year-old biological brother. There is a pet dog in the home, but no tobacco exposure. There are no firearms in the home. His father is a middle school administrator, and his mother is a substitute teacher. The patient will be in eighth grade in the fall, and is in both mainstream and special-needs classes, where he is a good student. He participates in basketball and baseball in the Special Olympics, and has been medically cleared for these. He has not traveled recently.

Are the mood changes symptomatic?

Developmentally, he has a history of mild mental retardation. He is described as an active, enthusiastic boy who works hard and plays hard. The dad reports that his son began displaying more argumentative behavior and occasional disobedience over the last few weeks. The father seems mildly concerned about this, as he mentions it several times in the interview.

On review of systems, the patient wears glasses, and has recently required a stronger prescription. There are no hearing problems or headaches. He has a two-week history of epistaxis, as well as the recent onset of panting, cough, and shortness of breath. He denies any chest pain, nausea, vomiting, diarrhea, or constipation, but has had recent abdominal distention and a six-pound weight gain. Over the past two months, he has grown 2.5 cm, and according to his father he developed some pubic and axillary hair as well as some mild facial acne. There have been no fevers, chills, or night sweats.

On exam, you find an uncooperative 14-year-old male, who is very resistant to the physical examination, and constantly orders you to leave the room. (Dad reports this is typical of the patient's behavior over the past two months. However, when the attending cardiologist who has known the patient all his life enters, the patient gives him a hug, and is very cooperative with his exam!)

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