Case 1: Hemoptysis, Hypoxia, and Anemia in a 10-year-old Girl

Presentation

A 10-year-old premenarchal girl with a history of chromosome 16 short arm duplication, seizures, and global developmental delay is transferred to us from another hospital for evaluation of new-onset severe anemia, hypoxia, and hemoptysis. At an outside hospital, her heart rate was 140 beats/min, blood pressure was 160/80 mm Hg, and oxygen saturation level was 88% on room air (100% on nonrebreather oxygen supplementation), and she was afebrile. There was no obvious bleeding source on examination. Laboratory evaluation revealed a hemoglobin level of 6.4 g/dL (64 g/L) compared with 13.2 g/dL (132 g/L) 3 years earlier. Chest radiography revealed bilateral diffuse infiltrates. She was transferred to our hospital.

On admission to our hospital, the patient’s mother reports that the patient is acting more aggressive than usual and appears pale. Two weeks before admission she had a brief episode of mild upper respiratory tract symptoms without fever. The review of systems is otherwise negative, including no history of weight loss, hematochezia, black tarry stool, epistaxis, bruising/bleeding, scleral icterus, jaundice, or hematuria.

Vital signs on hospital admission are as follows: temperature, 98.8°F (37.1°C); heart rate, 98 to 137 beats/min; respiratory rate, 22 to 36 breaths/min; and blood pressure, 96 to 120/47 to 89 mm Hg. Her oxygen saturation level is 80% on room air and increases to 100% on 100% nonrebreather mask. She is not …