A 14-Year-Old Boy with Chronic Cyanosis, Mild Anemia, and Limited Physical Resistance to Stress

Abstract

In April 1997, a then 4-year-old boy suddenly fell ill with fever, cough, fatigue, and poor physical resistance to stress. Marked cyanosis of the lips and the nail beds was noted. During his 3-week hospital stay, mycoplasmosis of the lung and a respiratory syncytial virus infection were diagnosed by the detection of high-titer Mycoplasma agglutinins in serum samples and positive test results for the presence of respiratory syncytial virus in nasopharyngeal secretions. In addition, incipient exogenous allergic alveolitis was suspected because of the presence of budgerigars and cockatiels in the boy's home and the finding of serum positivity for IgG precipitin. The boy's condition gradually improved with cefuroxime and clarythromycin treatment and oxygen therapy. α1-Antitrypsin deficiency and cystic fibrosis were excluded. Because the patient's oxygen saturation failed to improve during sleep and at times dropped to well below 90%, a cardiology examination was performed, and a cardiac defect was ruled out. The reticulocyte count and the curve of the absorption spectrum of oxyhemoglobin and deoxyhemoglobin were within the reference interval. Hemogram results were as follows: leukocytes, 5500/μL (reference interval, 5100–12 900/μL); hemoglobin, 11 g/dL (reference interval, 10.7–13.9 g/dL); thrombocytes, 319 000/μL (reference interval, 200 000–445 000/μL); mean corpuscular volume, 78 fL (reference interval, 74–89 fL); mean corpuscular hemoglobin, 26 pg (reference interval, 24.5–31 pg). At the same time, hemoglobin electrophoresis excluded hemoglobinopathy. One year later, the boy was electively readmitted to the pediatric clinic for assessment of continuous intermittent low oxygen saturation. Exogenous allergic alveolitis was excluded after bronchoalveolar lavage; sarcoidosis was also ruled out. Slight cyanosis of the lips was once again noted, however. Pulse oximetry showed normal oxygen saturation >93% during the day, but oxygen saturation repeatedly dropped to as low as 85% during sleep. Oxygen administration improved saturation immediately to >95%. These fluctuations in oxygen …